Genetics
Research in the Genetics Research Program involves projects on several rare genetic disorders and on genetic and life style risk factors in diabetes and diabetic complications. Risk factors for overweight and obesity are studied in a cohort of healthy teenagers.
Molecular Genetics
Original Articles Jukka Kallijärvi
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
Fellman V, Banerjee R, Lin KL, Pulli I, Cooper H, Tyynismaa H, Kallijärvi J. Biochim Biophys Acta Mol Basis Dis. 2022 Jan 1;1868(1):166298. doi: 10.1016/j.bbadis.2021.166298. Epub 2021 Oct 28. PMID: 34751152
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. Ann Clin Transl Neurol. 2021 Nov;8(11):2155-2165. doi: 10.1002/acn3.51470. Epub 2021 Oct 18. PMID: 34662929
Wu Y, Völler S, Flint RB, Simons SHP, Allegaert K, Fellman V, Knibbe CAJ. Clin Pharmacokinet. 2021 Nov 13. doi: 10.1007/s40262-021-01076-0. Online ahead of print. PMID: 34773609
Other Publication Jukka Kallijärvi
The mitochondrial coenzyme Q junction and complex III: biochemistry and pathophysiology.
Banerjee R, Purhonen J, Kallijärvi J. FEBS J. 2021 Aug 24. doi: 10.1111/febs.16164. Online ahead of print. PMID: 34428349 (Review)
Original Articles Juha Kere
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Acevedo N, Scala G, Merid SK, Frumento P, Bruhn S, Andersson A, Ogris C, Bottai M, Pershagen G, Koppelman GH, Melén E, Sonnhammer E, Alm J, Söderhäll C, Kere J, Greco D, Scheynius A. Int J Mol Sci. 2021 Jan 14;22(2):801. doi: 10.3390/ijms22020801. PMID: 33466918
Dog colour patterns explained by modular promoters of ancient canid origin. Bannasch DL, Kaelin CB, Letko A, Loechel R, Hug P, Jagannathan V, Henkel J, Roosje P, Hytönen MK, Lohi H, Arumilli M; DoGA consortium, Minor KM, Mickelson JR, Drögemüller C, Barsh GS, Leeb T. Nat Ecol Evol. 2021 Oct;5(10):1415-1423. doi: 10.1038/s41559-021-01524-x. Epub 2021 Aug 12. PMID: 34385618
Benedek P, Jiao H, Duvefelt K, Skoog T, Linde M, Kiviluoma P, Kere J, Eriksson M, Angelin B. J Intern Med. 2021 Aug;290(2):404-415. doi: 10.1111/joim.13287. Epub 2021 May 6. PMID: 33955087
Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis. Daura E, Tegelberg S, Yoshihara M, Jackson C, Simonetti F, Aksentjeff K, Ezer S, Hakala P, Katayama S, Kere J, Lehesjoki AE, Joensuu T. Neurobiol Dis. 2021 Aug;156:105418. doi: 10.1016/j.nbd.2021.105418. Epub 2021 Jun 5. PMID: 34102276
Characteristics of preeclampsia in donor cell gestations. Ervaala A, Laivuori H, Gissler M, Kere J, Kivinen K, Pouta A, Kajantie E, Heinonen S, Wedenoja S. Pregnancy Hypertens. 2022 Mar;27:59-61. doi: 10.1016/j.preghy.2021.12.005. Epub 2021 Dec 11. PMID: 34929557
Ezer S, Yoshihara M, Katayama S; DoGA consortium, Daub C, Lohi H, Krjutskov K, Kere J. STAR Protoc. 2021 Dec 12;2(4):100995. doi: 10.1016/j.xpro.2021.100995. eCollection 2021 Dec 17. PMID: 34950881
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants. Frank DN, Giese APJ, Hafren L, Bootpetch TC, Yarza TKL, Steritz MJ, Pedro M, Labra PJ, Daly KA, Tantoco MLC, Szeremeta W, Reyes-Quintos MRT, Ahankoob N, Llanes EGDV, Pine HS, Yousaf S, Ir D, Einarsdottir E, de la Cruz RAR, Lee NR, Nonato RMA, Robertson CE, Ong KMC, Magno JPM, Chiong ANE, Espiritu-Chiong MC, San Agustin ML, Cruz TLG, Abes GT, Bamshad MJ, Cutiongco-de la Paz EM, Kere J, Nickerson DA, Mohlke KL, Riazuddin S, Chan A, Mattila PS, Leal SM, Ryan AF, Ahmed ZM, Chonmaitree T, Sale MM, Chiong CM, Santos-Cortez RLP. J Med Genet. 2021 Jul;58(7):442-452. doi: 10.1136/jmedgenet-2020-106844. Epub 2020 Jul 24. PMID: 32709676
Gialluisi A, Andlauer TFM, Mirza-Schreiber N, Moll K, Becker J, Hoffmann P, Ludwig KU, Czamara D, Pourcain BS, Honbolygó F, Tóth D, Csépe V, Huguet G, Chaix Y, Iannuzzi S, Demonet JF, Morris AP, Hulslander J, Willcutt EG, DeFries JC, Olson RK, Smith SD, Pennington BF, Vaessen A, Maurer U, Lyytinen H, Peyrard-Janvid M, Leppänen PHT, Brandeis D, Bonte M, Stein JF, Talcott JB, Fauchereau F, Wilcke A, Kirsten H, Müller B, Francks C, Bourgeron T, Monaco AP, Ramus F, Landerl K, Kere J, Scerri TS, Paracchini S, Fisher SE, Schumacher J, Nöthen MM, Müller-Myhsok B, Schulte-Körne G. Mol Psychiatry. 2021 Jul;26(7):3004-3017. doi: 10.1038/s41380-020-00898-x. Epub 2020 Oct 14. PMID: 33057169 Grapotte M, Saraswat M, Bessière C, Menichelli C, Ramilowski JA, Severin J, Hayashizaki Y, Itoh M, Tagami M, Murata M, Kojima-Ishiyama M, Noma S, Noguchi S, Kasukawa T, Hasegawa A, Suzuki H, Nishiyori-Sueki H, Frith MC; FANTOM consortium, Chatelain C, Carninci P, de Hoon MJL, Wasserman WW, Bréhélin L, Lecellier CH. Nat Commun. 2021 Jun 2;12(1):3297. doi: 10.1038/s41467-021-23143-7. PMID: 34078885
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients. Harjama L, Karvonen V, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Ellonen P, Saarela J, Ranki A, Kere J, Hannula-Jouppi K. J Eur Acad Dermatol Venereol. 2021 Sep;35(9):1874-1880. doi: 10.1111/jdv.17314. Epub 2021 May 21. PMID: 33914963
Embryonic LTR retrotransposons supply promoter modules to somatic tissues. Hashimoto K, Jouhilahti EM, Töhönen V, Carninci P, Kere J, Katayama S. Genome Res. 2021 Nov;31(11):1983-1993. doi: 10.1101/gr.275354.121. Epub 2021 Oct 21. PMID: 34675070
The role of CDHR3 in susceptibility to otitis media. Hirsch SD, Elling CL, Bootpetch TC, Scholes MA, Hafrén L, Streubel SO, Pine HS, Wine TM, Szeremeta W, Prager JD, Einarsdottir E, Yousaf A, Baschal EE, Rehman S, Bamshad MJ, Nickerson DA, Riazuddin S, Leal SM, Ahmed ZM, Yoon PJ, Kere J, Chan KH, Mattila PS, Friedman NR, Chonmaitree T, Frank DN, Ryan AF, Santos-Cortez RLP. J Mol Med (Berl). 2021 Nov;99(11):1571-1583. doi: 10.1007/s00109-021-02118-7. Epub 2021 Jul 28. PMID: 34322716 |
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Jääskeläinen T, Kärkkäinen O, Jokkala J, Klåvus A, Heinonen S, Auriola S, Lehtonen M; FINNPEC Core Investigator Group, Hanhineva K, Laivuori H. Metabolomics. 2021 Jan 29;17(2):20. doi: 10.1007/s11306-020-01752-5. PMID: 33515103 Kaukonen M, Pettinen IT, Wickström K, Arumilli M, Donner J, Juhola IJ, Holopainen S, Turunen JA, Yoshihara M, Kere J, Lohi H. Hum Genet. 2021 Nov;140(11):1569-1579. doi: 10.1007/s00439-021-02266-3. Epub 2021 Feb 19. PMID: 33606121
HLA-G expression correlates with histological grade but not with prognosis in colorectal carcinoma. Kaprio T, Sariola H, Linder N, Lundin J, Kere J, Haglund C, Wedenoja S. HLA. 2021 Sep;98(3):213-217. doi: 10.1111/tan.14334. Epub 2021 Jun 23. PMID: 34050622 |
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Association of Maternal DNA Methylation and Offspring Birthweight. Kheirkhah Rahimabad P, Arshad SH, Holloway JW, Mukherjee N, Hedman A, Gruzieva O, Andolf E, Kere J, Pershagen G, Almqvist C, Jiang Y, Chen S, Karmaus W. Reprod Sci. 2021 Jan;28(1):218-227. doi: 10.1007/s43032-020-00281-9. Epub 2020 Aug 4. PMID: 32754889
Toxicogenomic Profiling of 28 Nanomaterials in Mouse Airways. Kinaret PAS, Ndika J, Ilves M, Wolff H, Vales G, Norppa H, Savolainen K, Skoog T, Kere J, Moya S, Handy RD, Karisola P, Fadeel B, Greco D, Alenius H. Adv Sci (Weinh). 2021 Mar 8;8(10):2004588. doi: 10.1002/advs.202004588. eCollection 2021 May. PMID: 34026454
Nasal upregulation of CST1 in dog-sensitised children with severe allergic airway disease. Käck U, Einarsdottir E, van Hage M, Asarnoj A, James A, Nopp A, Krjutškov K, Katayama S, Kere J, Lilja G, Söderhäll C, Konradsen JR. ERJ Open Res. 2021 Apr 19;7(2):00917-2020. doi: 10.1183/23120541.00917-2020. eCollection 2021 Apr. PMID: 33898616
Transcriptome-based identification of novel endotypes in adult atopic dermatitis. Lefèvre-Utile A, Saichi M, Oláh P, Delord M, Homey B, Soumelis V; MAARS consortium. Allergy. 2021 Oct 24. doi: 10.1111/all.15150. Online ahead of print. PMID: 34689335
Lokki AI, Teirilä L, Triebwasser M, Daly E, Bhattacharjee A, Uotila L, Llort Asens M, Kurki MI, Perola M, Auro K, Salmon JE, Daly M, Atkinson JP, Laivuori H, Fagerholm S, Meri S; Finnpec. BJOG. 2021 Jul;128(8):1282-1291. doi: 10.1111/1471-0528.16660. Epub 2021 Mar 14. PMID: 33539617
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Nora A, Renvall H, Ronimus M, Kere J, Lyytinen H, Salmelin R. Neuroimage. 2021 Apr 1;229:117739. doi: 10.1016/j.neuroimage.2021.117739. Epub 2021 Jan 14. PMID: 33454404 |
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Ottman N, Barrientos-Somarribas M, Fyhrquist N, Alexander H, Wisgrill L, Olah P, Tsoka S, Greco D, Levi-Schaffer F, Soumelis V, Schröder JM, Kere J, Nestle FO, Barker J, Ranki A, Lauerma A, Homey B, Andersson B, Alenius H. Allergy. 2021 Apr;76(4):1173-1187. doi: 10.1111/all.14606. Epub 2020 Oct 14. PMID: 3300146 |
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Paloviita P, Hydén-Granskog C, Yohannes DA, Paluoja P, Kere J, Tapanainen JS, Krjutškov K, Tuuri T, Võsa U, Vuoristo S. Genome Res. 2021 Aug;31(8):1474-1485. doi: 10.1101/gr.268193.120. PMID: 34340992 |
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Plaza-Florido A, Altmäe S, Esteban FJ, Cadenas-Sanchez C, Aguilera CM, Einarsdottir E, Katayama S, Krjutškov K, Kere J, Zaldivar F, Radom-Aizik S, Ortega FB. Pediatr Res. 2021 May;89(7):1687-1694. doi: 10.1038/s41390-020-01276-7. Epub 2020 Nov 23. PMID: 33230195 |
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Söderhäll C, Reinius LE, Salmenperä P, Gentile M, Acevedo N, Konradsen JR, Nordlund B, Hedlin G, Scheynius A, Myllykangas S, Kere J. Clin Epigenetics. 2021 May 10;13(1):106. doi: 10.1186/s13148-021-01093-7. PMID: 33971943 |
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Varshney MK, Yu NY, Katayama S, Li X, Liu T, Wu WF, Töhönen V, Krjutškov K, Kere J, Fan X, Inzunza J, Gustafsson JÅ, Nalvarte I. Neuroendocrinology. 2021;111(1-2):27-44. doi: 10.1159/000506162. Epub 2020 Jan 28. PMID: 31991411 |
Original Articles Anna-Elina Lehesjoki
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network, Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium, Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. PMID: 34909687
Canafoglia L, Franceschetti S, Gambardella A, Striano P, Giallonardo AT, Tinuper P, Di Bonaventura C, Michelucci R, Ferlazzo E, Granata T, Magaudda A, Licchetta L, Filla A, La Neve A, Riguzzi P, Cantisani TA, Fanella M, Castellotti B, Gellera C, Bahlo M, Zara F, Courage C, Lehesjoki AE, Oliver KL, Berkovic SF. Neurol Genet. 2021 Nov 12;7(6):e641. doi: 10.1212/NXG.0000000000000641. eCollection 2021 Dec. PMID: 34786481
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. PMID: 33798445
Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis.
Daura E, Tegelberg S, Yoshihara M, Jackson C, Simonetti F, Aksentjeff K, Ezer S, Hakala P, Katayama S, Kere J, Lehesjoki AE, Joensuu T. Neurobiol Dis. 2021 Aug;156:105418. doi: 10.1016/j.nbd.2021.105418. Epub 2021 Jun 5. PMID: 34102276
Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu; Epi25 Collaborative. Am J Hum Genet. 2021 Jun 3;108(6):965-982. doi: 10.1016/j.ajhg.2021.04.009. Epub 2021 Apr 30. PMID: 33932343
Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
Koko M, Krause R, Sander T, Bobbili DR, Nothnagel M, May P, Lerche H; Epi25 Collaborative. EBioMedicine. 2021 Oct;72:103588. doi: 10.1016/j.ebiom.2021.103588. Epub 2021 Sep 24. PMID: 34571366
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H; MAE working group of EuroEPINOMICS RES Consortium, Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ. Brain. 2021 Nov 11:awab409. doi: 10.1093/brain/awab409. Online ahead of print. PMID: 34788397
Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. PMID: 34002374
Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K. Genet Med. 2021 Jun;23(6):1050-1057. doi: 10.1038/s41436-020-01091-9. Epub 2021 Jan 25. PMID: 33495529
Original Articles Hannes Lohi
Dog colour patterns explained by modular promoters of ancient canid origin.
Bannasch DL, Kaelin CB, Letko A, Loechel R, Hug P, Jagannathan V, Henkel J, Roosje P, Hytönen MK, Lohi H, Arumilli M; DoGA consortium, Minor KM, Mickelson JR, Drögemüller C, Barsh GS, Leeb T. Nat Ecol Evol. 2021 Oct;5(10):1415-1423. doi: 10.1038/s41559-021-01524-x.
Ezer S, Yoshihara M, Katayama S; DoGA consortium, Daub C, Lohi H, Krjutskov K, Kere J. STAR Protoc. 2021 Dec 12;2(4):100995. doi: 10.1016/j.xpro.2021.100995. eCollection 2021 Dec 17.
Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits.
Genova F, Nonnis S, Maffioli E, Tedeschi G, Strillacci MG, Carisetti M, Sironi G, Cupaioli FA, Di Nanni N, Mezzelani A, Mosca E, Helps CR, Leegwater PAJ, Dorso L; 99 Lives Consortium, Longeri M. Sci Rep. 2021 Apr 16;11(1):8339. doi: 10.1038/s41598-021-87168-0.
Gershony LC, Belanger JM, Hytönen MK, Lohi H, Oberbauer AM. Genes (Basel). 2021 Aug 19;12(8):1265. doi: 10.3390/genes12081265.
Harmoinen J, von Thaden A, Aspi J, Kvist L, Cocchiararo B, Jarausch A, Gazzola A, Sin T, Lohi H, Hytönen MK, Kojola I, Stronen AV, Caniglia R, Mattucci F, Galaverni M, Godinho R, Ruiz-González A, Randi E, Muñoz-Fuentes V, Nowak C. BMC Genomics. 2021 Jun 25;22(1):473. doi: 10.1186/s12864-021-07761-5.
Hitti-Malin RJ, Burmeister LM, Lingaas F, Kaukonen M, Pettinen I, Lohi H, Sargan D, Mellersh CS. Genes (Basel). 2021 Nov 8;12(11):1771. doi: 10.3390/genes12111771.
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss.
Hytönen MK, Niskanen JE, Arumilli M, Brookhart-Knox CA, Donner J, Lohi H. Hum Genet. 2021 Nov;140(11):1611-1618. doi: 10.1007/s00439-021-02286-z.
Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H. Hum Genet. 2021 Nov;140(11):1593-1609. doi: 10.1007/s00439-021-02279-y.
Kaimio M, Malkamäki S, Kaukonen M, Ahonen S, Hytönen MK, Rantala M, Lohi H, Saijonmaa-Koulumies L, Laitinen-Vapaavuori O. J Comp Pathol. 2021 May;185:30-44. doi: 10.1016/j.jcpa.2021.03.005.
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
Kaukonen M, Pettinen IT, Wickström K, Arumilli M, Donner J, Juhola IJ, Holopainen S, Turunen JA, Yoshihara M, Kere J, Lohi H. Hum Genet. 2021 Nov;140(11):1569-1579. doi: 10.1007/s00439-021-02266-3.
Intronic variant in POU1F1 associated with canine pituitary dwarfism.
Kyöstilä K, Niskanen JE, Arumilli M, Donner J, Hytönen MK, Lohi H. Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2.
Lyons LA, Buckley RM, Harvey RJ; 99 Lives Cat Genome Consortium. Anim Genet. 2021 Jun;52(3):321-332. doi: 10.1111/age.13059.
An across-breed validation study of 46 genetic markers in canine hip dysplasia.
Mikkola L, Kyöstilä K, Donner J, Lappalainen AK, Hytönen MK, Lohi H, Iivanainen A. BMC Genomics. 2021 Jan 21;22(1):68. doi: 10.1186/s12864-021-07375-x.
Reliability and Validity of Seven Feline Behavior and Personality Traits.
Mikkola S, Salonen M, Hakanen E, Sulkama S, Lohi H. Animals (Basel). 2021 Jul 2;11(7):1991. doi: 10.3390/ani11071991.
Mikkola S, Salonen M, Puurunen J, Hakanen E, Sulkama S, Araujo C, Lohi H. Sci Rep. 2021 May 3;11(1):9433. doi: 10.1038/s41598-021-88793-5.
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Niskanen JE, Reunanen V, Salonen M, Bannasch D, Lappalainen AK, Lohi H, Hytönen MK. Hum Genet. 2021 Nov;140(11):1535-1545. doi: 10.1007/s00439-021-02261-8.
Ottka C, Vapalahti K, Puurunen J, Vahtera L, Lohi H. Vet Clin Pathol. 2021 Sep;50(3):410-426. doi: 10.1111/vcp.12954.
Serum NMR metabolomics uncovers multiple metabolic changes in phenobarbital-treated dogs.
Ottka C, Weber C, Müller E, Lohi H. Metabolomics. 2021 Jun 2;17(6):54. doi: 10.1007/s11306-021-01803-5.
A hypomyelinating leukodystrophy in German Shepherd dogs.
Quitt PR, Brühschwein A, Matiasek K, Wielaender F, Karkamo V, Hytönen MK, Meyer-Lindenberg A, Dengler B, Leeb T, Lohi H, Fischer A. J Vet Intern Med. 2021 May;35(3):1455-1465. doi: 10.1111/jvim.16085.
Reliability and Validity of a Dog Personality and Unwanted Behavior Survey.
Salonen M, Mikkola S, Hakanen E, Sulkama S, Puurunen J, Lohi H. Animals (Basel). 2021 Apr 24;11(5):1234. doi: 10.3390/ani11051234.
Sulkama S, Puurunen J, Salonen M, Mikkola S, Hakanen E, Araujo C, Lohi H. Transl Psychiatry. 2021 Oct 1;11(1):501. doi: 10.1038/s41398-021-01626-x.
Ukai M, Parmentier T, Cortez MA, Fischer A, Gaitero L, Lohi H, Nykamp S, Jokinen TS, Powers D, Sammut V, Sanders S, Tai T, Wielaender F, James F. J Vet Intern Med. 2021 Jul;35(4):1819-1825. doi: 10.1111/jvim.16158.
Seasonal variation in serum metabolites of northern European dogs.
Walker HK, Ottka C, Lohi H, Handel I, Clements DN, Gow AG, Mellanby RJ. J Vet Intern Med. 2022 Jan;36(1):190-195. doi: 10.1111/jvim.16298.
Other Publications Hannes Lohi
Simonen M, Lohi H. Interactional reciprocity in human–dog interaction. In: Intersubjectivity in Action: Studies in language and social interaction. Lindstrom J, Laury R, Peräkylä A, Sorjonen M-L, editors. Amsterdam: John Benjamins, p. 397–428 (Pragmatics and Beyond New Series; vol. 326) 2021.
Lohi H and Simonen M. Kissing a dog in distress. Litteraria Copernicana, Vol 37, Issue 1, 107-122, 2021. DOI: http://dx.doi.org/10.12775/LC.2021.007
Original Articles Outi Mäkitie
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Ain NU, Fatima Z, Naz S, Makitie O. BMC Musculoskelet Disord. 2021 Jul 20;22(1):630. doi: 10.1186/s12891-021-04503-2.
Anttila H, Tallqvist S, Muñoz M, Leppäjoki-Tiistola S, Mäkitie O, Hiekkala S. Orphanet J Rare Dis. 2021 May 22;16(1):236. doi: 10.1186/s13023-021-01857-7.
Arponen H, Bachour A, Bäck L, Valta H, Mäkitie A, Mäkitie O, Waltimo-Sirén J. BMC Musculoskelet Disord. 2021 Jan 11;22(1):61. doi: 10.1186/s12891-020-03932-9.
Arponen H, Evälahti M, Mäkitie O. Front Endocrinol (Lausanne). 2021 Dec 10;12:741548. doi: 10.3389/fendo.2021.741548. eCollection 2021.
Women With Chronic Hypoparathyroidism Have Low Risk of Adverse Pregnancy Outcomes.
Björnsdottir S, Clarke B, Mäkitie O, Sandström A, Tiblad E, Spelman T, Kämpe O. J Clin Endocrinol Metab. 2021 Oct 21;106(11):3312-3319. doi: 10.1210/clinem/dgab503.
Infections and demanding endocrine care contribute to increased mortality in patients with APECED.
Borchers J, Mäkitie O, Laakso S. Eur J Endocrinol. 2021 Oct 8;185(5):K13-K17. doi: 10.1530/EJE-21-0241.
New gene discoveries in skeletal diseases with short stature.
Costantini A, Muurinen MH, Mäkitie O. Endocr Connect. 2021 May 10;10(5):R160-R174. doi: 10.1530/EC-21-0083.
Costantini A, Valta H, Suomi AM, Mäkitie O, Taylan F. Front Genet. 2021 Jun 2;12:680838. doi: 10.3389/fgene.2021.680838.
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg D, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W, Mäkitie O. Front Endocrinol (Lausanne). 2021 Aug 13;12:709711. doi: 10.3389/fendo.2021.709711.
Fratzl-Zelman N, Wesseling-Perry K, Mäkitie RE, Blouin S, Hartmann MA, Zwerina J, Välimäki VV, Laine CM, Välimäki MJ, Pereira RC, Mäkitie O. Bone. 2021 May;146:115900. doi: 10.1016/j.bone.2021.115900.
The Effects of Vitamin D Supplementation During Infancy on Growth During the First 2 Years of Life.
Hauta-Alus HH, Holmlund-Suila EM, Kajantie E, Rosendahl J, Valkama SM, Enlund-Cerullo M, Andersson S, Mäkitie O. J Clin Endocrinol Metab. 2021 Mar 8;106(3):e1140-e1155. doi: 10.1210/clinem/dgaa943.
Hetemäki I, Jian C, Laakso S, Mäkitie O, Pajari AM, de Vos WM, Arstila TP, Salonen A. Front Immunol. 2021 Jul 22;12:668219. doi: 10.3389/fimmu.2021.668219.
Hetemäki I, Laakso S, Välimaa H, Kleino I, Kekäläinen E, Mäkitie O, Arstila TP. Clin Immunol. 2021 Oct;231:108851. doi: 10.1016/j.clim.2021.108851.
Holmlund-Suila EM, Hauta-Alus HH, Enlund-Cerullo M, Rosendahl J, Valkama SM, Andersson S, Mäkitie O. Clin Nutr. 2022 Feb;41(2):279-287. doi: 10.1016/j.clnu.2021.12.013.
Härkönen H, Loid P, Mäkitie O. Genes (Basel). 2021 May 11;12(5):714. doi: 10.3390/genes12050714.
Phosphate Concentrations and Modifying Factors in Healthy Children From 12 to 24 Months of Age.
Koljonen L, Enlund-Cerullo M, Hauta-Alus H, Holmlund-Suila E, Valkama S, Rosendahl J, Andersson S, Pekkinen M, Mäkitie O. J Clin Endocrinol Metab. 2021 Sep 27;106(10):2865-2875. doi: 10.1210/clinem/dgab495.
Koromani F, Alonso N, Alves I, Brandi ML, Foessl I, Formosa MM, Morgenstern MF, Karasik D, Kolev M, Makitie O, Ntzani E, Pietsch BO, Ohlsson C, Rauner M, Soe K, Soldatovic I, Teti A, Valjevac A, Rivadeneira F. Front Endocrinol (Lausanne). 2021 Aug 16;12:709815. doi: 10.3389/fendo.2021.709815.
Laakso S, Holopainen E, Betterle C, Saari V, Vogt E, Schmitt MM, Winer KK, Kareva M, Sabbadin C, Husebye ES, Orlova E, Lionakis MS, Mäkitie O. J Clin Endocrinol Metab. 2022 Jan 18;107(2):e528-e537. doi: 10.1210/clinem/dgab705.
Landegren N, Ishii N, Aranda-Guillén M, Gunnarsson HI, Sardh F, Hallgren Å, Ståhle M, Hagforsen E, Bradley M, Edqvist PD, Pontén F, Mäkitie O, Eidsmo L, Norlén L, Achour A, Dahlbom I, Korponay-Szabó I, Agardh D, Alimohammadi M, Eriksson D, Hashimoto T, Kämpe O. Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2100687118. doi: 10.1073/pnas.2100687118.
Mäkitie RE, Blouin S, Välimäki VV, Pihlström S, Määttä K, Pekkinen M, Fratzl-Zelman N, Mäkitie O, Hartmann MA. JBMR Plus. 2021 Aug 20;5(11):e10537. doi: 10.1002/jbm4.10537.
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility.
Mäkitie RE, Henning P, Jiu Y, Kämpe A, Kogan K, Costantini A, Välimäki VV, Medina-Gomez C, Pekkinen M, Salusky IB, Schalin-Jäntti C, Haanpää MK, Rivadeneira F, Bassett JHD, Williams GR, Lerner UH, Pereira RC, Lappalainen P, Mäkitie O. JBMR Plus. 2021 Jun 7;5(7):e10509. doi: 10.1002/jbm4.10509.
Mäkitie RE, Pekkinen M, Morisada N, Kobayashi D, Yonezawa Y, Nishimura G, Ikegawa S, Mäkitie O. Calcif Tissue Int. 2021 Dec;109(6):626-632. doi: 10.1007/s00223-021-00878-5.
Mäkitie O, Zillikens MC. Calcif Tissue Int. 2021 Jul 8. doi: 10.1007/s00223-021-00885-6.
Serum and Urinary Osteocalcin in Healthy 7- to 19-Year-Old Finnish Children and Adolescents.
Paldánius PM, Ivaska KK, Mäkitie O, Viljakainen H. Front Pediatr. 2021 Aug 24;9:610227. doi: 10.3389/fped.2021.610227.
Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1).
Saari V, Laakso S, Tiitinen A, Mäkitie O, Holopainen E. Front Endocrinol (Lausanne). 2021 Nov 30;12:784195. doi: 10.3389/fendo.2021.784195.
Prenatal maternal and cord blood vitamin D concentrations and negative affectivity in infancy.
Sammallahti S, Holmlund-Suila E, Zou R, Valkama S, Rosendahl J, Enlund-Cerullo M, Hauta-Alus H, Lahti-Pulkkinen M, El Marroun H, Tiemeier H, Mäkitie O, Andersson S, Räikkönen K, Heinonen K. Eur Child Adolesc Psychiatry. 2021 Oct 18. doi: 10.1007/s00787-021-01894-4.
Tuovinen S, Räikkönen K, Holmlund-Suila E, Hauta-Alus H, Helve O, Rosendahl J, Enlund-Cerullo M, Kajantie E, Valkama S, Viljakainen H, Mäkitie O, Andersson S, Heinonen K. JAMA Netw Open. 2021 Sep 1;4(9):e2124493. doi: 10.1001/jamanetworkopen.2021.24493.
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.
Vakkilainen S, Klemetti P, Martelius T, Seppänen MJ, Mäkitie O, Toiviainen-Salo S. J Clin Immunol. 2021 Jul;41(5):1064-1071. doi: 10.1007/s10875-021-01007-5.
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.
Yasin S, Makitie O, Naz S. BMC Musculoskelet Disord. 2021 Jan 6;22(1):31. doi: 10.1186/s12891-020-03890-2.
Other Publication Outi Mäkite
Härkönen H, Loid P, Mäkitie O. Genes (Basel). 2021 May 11;12(5):714. doi: 10.3390/genes12050714. PMID: 34064542 (Review)
Original Articles Joni Turunen
Management of CLN1 Disease: International Clinical Consensus.
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S. Pediatr Neurol. 2021 Jul;120:38-51. doi: 10.1016/j.pediatrneurol.2021.04.002. Epub 2021 Apr 9. PMID: 34000449
Immonen AT, Kawan S, Vesaluoma M, Heiskanen JM, Taipale C, Koskinen M, Majander A, Kivelä TT, Turunen JA. Am J Ophthalmol. 2021 Nov 3;236:309-318. doi: 10.1016/j.ajo.2021.10.025. Online ahead of print. PMID: 34740632
Jaakkola AM, Järventausta PJ, Järvinen RS, Repo P, Kivelä TT, Turunen JA. Eur J Ophthalmol. 2021 Mar 1:1120672121997305. doi: 10.1177/1120672121997305. Online ahead of print. PMID: 33645289
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
Kaukonen M, Pettinen IT, Wickström K, Arumilli M, Donner J, Juhola IJ, Holopainen S, Turunen JA, Yoshihara M, Kere J, Lohi H. Hum Genet. 2021 Nov;140(11):1569-1579. doi: 10.1007/s00439-021-02266-3. Epub 2021 Feb 19. PMID: 33606121
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ, Harju M, Kivelä TT, Turunen JA. Acta Ophthalmol. 2021 Nov;99(7):e1090-e1097. doi: 10.1111/aos.14738. Epub 2021 Jan 9. PMID: 33421356
Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
Liuska PJ, Lemmelä S, Havulinna AS, Kaarniranta K, Uusitalo H, Laivuori H, Kiiskinen T, Daly MJ, Palotie A, Turunen JA; FinnGen Consortium. JAMA Ophthalmol. 2021 Jul 1;139(7):762-768. doi: 10.1001/jamaophthalmol.2021.1610. PMID: 34081096
Repo P, Järvinen RS, Sankila EM, Paavo M, Ellonen P, Kivelä TT, Turunen JA. Clin Genet. 2021 Jan;99(1):193-198. doi: 10.1111/cge.13847. Epub 2020 Sep 18. PMID: 32901921
Presence of distinctive microbiome in the first-pass meconium of newborn infants.
Turunen J, Tejesvi MV, Paalanne N, Hekkala J, Lindgren O, Kaakinen M, Pokka T, Kaisanlahti A, Reunanen J, Tapiainen T. Sci Rep. 2021 Sep 30;11(1):19449. doi: 10.1038/s41598-021-98951-4. PMID: 34593932
Original Articles Bjarne Udd, Peter Hackman and Marco Savarese
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Ibrahim Aydin H, Ceylaner S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Brain. 2021 Dec 27:awab484. doi: 10.1093/brain/awab484. Online ahead of print. PMID: 34957489
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.
Hackman P, Rusanen SM, Johari M, Vihola A, Jonson PH, Sarparanta J, Donner K, Lahermo P, Koivunen S, Luque H, Soininen M, Mahjneh I, Auranen M, Arumilli M, Savarese M, Udd B. Neurol Genet. 2021 Oct 27;7(6):e632. doi: 10.1212/NXG.0000000000000632. eCollection 2021 Dec. PMID: 34722876
Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B. Acta Neuropathol. 2021 Aug;142(2):375-393. doi: 10.1007/s00401-021-02319-x. Epub 2021 May 11. PMID: 33974137
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. PMID: 34075210
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.
Petrucci A, Primiano G, Savarese M, Sancricca C, Udd B, Servidei S. Neuromuscul Disord. 2021 Jun;31(6):532-538. doi: 10.1016/j.nmd.2021.03.001. Epub 2021 Mar 6. PMID: 33832840
Sagath L, Lehtokari VL, Välipakka S, Vihola A, Gardberg M, Hackman P, Pelin K, Jokela M, Kiiski K, Udd B, Wallgren-Pettersson C. Neuromuscul Disord. 2021 Jun;31(6):539-545. doi: 10.1016/j.nmd.2021.03.006. Epub 2021 Mar 23. PMID: 33933294
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.
Salih MA, Hamad MH, Savarese M, Alorainy IA, Al-Jarallah AS, Alkhalidi H, AlQudairy H, Albader A, Alotaibi AJ, Alsagob M, Al-Bakheet A, Colak D, Udd B, Kaya N. Genet Test Mol Biomarkers. 2021 Dec;25(12):757-764. doi: 10.1089/gtmb.2021.0085. PMID: 34918981
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Savarese M, Vihola A, Jokela ME, Huovinen SP, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore ME, Hackman P, Gautel M, Nigro V, Previtali SC, Udd B. Neurol Genet. 2021 Aug 10;7(5):e619. doi: 10.1212/NXG.0000000000000619. eCollection 2021 Oct. PMID: 34386585
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. PMID: 33972714
Töpf A, Pyle A, Griffin H, Matalonga L, Schon K; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD, Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kölbel H, Roos A, Horvath R. Eur J Hum Genet. 2021 Sep;29(9):1348-1353. doi: 10.1038/s41431-021-00851-8. Epub 2021 Jun 1. PMID: 34075209
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. PMID: 34075208
Other Publications Bjarne Udd, Peter Hackman and Marco Savarese
SMPX-geenivirheet uuden lihastaudin syynä
Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B. Duodecim 2021; 137 (12): 1327-1328.
Kaitsijamutaatiot neuromuskulaaritaudeissa
Sarparanta J, Udd B. Duodecim 2021; 137 (15): 1501-1508.
Udd B. Distal Muscular Dystrophies. Chapter 8. In: Narayanaswami P, Liewluck T, editors. Principals and Practice of Muscular Dystrophies. Springer Nature 2021.
Udd B. Vad behöver en läkare veta om muskelsjukdomar och deras behandlingsmöjligheter? Finska Läkaresällskapets handlingar 2021; 181(1): 77-83.
Original Articles Carina Wallgren-Pettersson
Fouarge E, Monseur A, Boulanger B, Annoussamy M, Seferian AM, De Lucia S, Lilien C, Thielemans L, Paradis K, Cowling BS, Freitag C, Carlin BP, Servais L; NatHis-MTM Study Group.Orphanet J Rare Dis. 2021 Jan 6;16(1):3. doi: 10.1186/s13023-020-01663-7. PMID: 33407688
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.
Sagath L, Lehtokari VL, Välipakka S, Vihola A, Gardberg M, Hackman P, Pelin K, Jokela M, Kiiski K, Udd B, Wallgren-Pettersson C.Neuromuscul Disord. 2021 Jun;31(6):539-545. doi: 10.1016/j.nmd.2021.03.006. Epub 2021 Mar 23. PMID: 33933294
A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.
Strang-Karlsson S, von Willebrand M, Avela K, Wallgren-Pettersson C. Am J Med Genet A. 2021 Jun;185(6):1875-1882. doi: 10.1002/ajmg.a.62168. Epub 2021 Mar 17. PMID: 33729667
Other Publication Carina Wallgren-Pettersson
Recent advances in nemaline myopathy.
Laitila J, Wallgren-Pettersson C.Neuromuscul Disord. 2021 Oct;31(10):955-967. doi: 10.1016/j.nmd.2021.07.012. Epub 2021 Jul 24. PMID: 34561123 (Review)
Original Article Maija Wessman
Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families.
Häppölä P, Gormley P, Nuottamo ME, Artto V, Sumelahti ML, Nissilä M, Keski-Säntti P, Ilmavirta M, Kaunisto MA, Hämäläinen EI, Ripatti S, Pirinen M, Wessman M, Palotie A, Kallela M; International Headache Genetics Consortium (IHGC). Cephalalgia. 2021 Oct 14:3331024211045651. doi: 10.1177/03331024211045651. Online ahead of print. PMID: 34648375
Other Publication Maija Wessman
Migreenin geneettinen tausta on monitekijäinen
Wessman M, Kaunisto M, Nuottamo, M, Häppölä P, Artto V, Anttila V, Kallela M, Palotie A.
Duodecim 2021;137(6):575-584 (Review)
https://www.duodecimlehti.fi/lehti/2021/6/duo16128?keyword=Wessman
Diabetes Genetics
Original Articles Per-Henrik Groop
Nut Consumption Is Associated with Lower Risk of Metabolic Syndrome and Its Components in Type 1 Diabetes.
Ahola AJ, Forsblom CM, Harjutsalo V, Groop PH. Nutrients. 2021 Oct 30;13(11):3909. doi: 10.3390/nu13113909. PMID: 34836164 Free PMC article.
Dietary intake and hospitalisation due to diabetic ketoacidosis and hypoglycaemia in individuals with type 1 diabetes.
Ahola AJ, Harjutsalo V, Thomas MC, Forsblom C, Groop PH. Sci Rep. 2021 Jan 15;11(1):1638. doi: 10.1038/s41598-021-81180-0. PMID: 33452386 Free PMC article.
Symptoms of depression are associated with reduced leisure-time physical activity in adult individuals with type 1 diabetes.
Ahola AJ, Tikkanen-Dolenc H, Forsblom C, Harjutsalo V, Groop PH; FinnDiane Study Group. Acta Diabetol. 2021 Oct;58(10):1373-1380. doi: 10.1007/s00592-021-01718-6. Epub 2021 May 19. PMID: 34009436 Free PMC article.
Genome-wide association study on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a risk locus.
Antikainen AAV, Sandholm N, Trégouët DA, Charmet R, McKnight AJ, Ahluwalia TS, Syreeni A, Valo E, Forsblom C, Gordin D, Harjutsalo V, Hadjadj S, Maxwell AP, Rossing P, Groop PH. Cardiovasc Res. 2021 Jan 21;117(2):600-612. doi: 10.1093/cvr/cvaa045. PMID: 32077919 Free PMC article.
Comparison of urinary extracellular vesicle isolation methods for transcriptomic biomarker research in diabetic kidney disease.
Barreiro K, Dwivedi OP, Leparc G, Rolser M, Delic D, Forsblom C, Groop PH, Groop L, Huber TB, Puhka M, Holthofer H. J Extracell Vesicles. 2020 Dec;10(2):e12038. doi: 10.1002/jev2.12038. Epub 2021 Jan 7. PMID: 33437407 Free PMC article.
Urinary extracellular vesicles: Assessment of pre-analytical variables and development of a quality control with focus on transcriptomic biomarker research.
Barreiro K, Dwivedi OP, Valkonen S, Groop PH, Tuomi T, Holthofer H, Rannikko A, Yliperttula M, Siljander P, Laitinen S, Serkkola E, Af Hällström T, Forsblom C, Groop L, Puhka M. J Extracell Vesicles. 2021 Oct;10(12):e12158. doi: 10.1002/jev2.12158. PMID: 34651466 Free PMC article.
Circulating CD5L is associated with cardiovascular events and all-cause mortality in individuals with chronic kidney disease.
Castelblanco E, Sarrias MR, Betriu À, Soldevila B, Barranco-Altirriba M, Franch-Nadal J, Valdivielso JM, Bermudez-Lopez M, Groop PH, Fernández E, Alonso N, Mauricio D. Aging (Albany NY). 2021 Oct 10;13(19):22690-22709. doi: 10.18632/aging.203615. Epub 2021 Oct 10. PMID: 34629330 Free PMC article.
The Low-Expression Variant of FABP4 Is Associated With Cardiovascular Disease in Type 1 Diabetes.
Dahlström EH, Saksi J, Forsblom C, Uglebjerg N, Mars N, Thorn LM, Harjutsalo V, Rossing P, Ahluwalia TS, Lindsberg PJ, Sandholm N, Groop PH; FinnDiane Study Group. Diabetes. 2021 Oct;70(10):2391-2401. doi: 10.2337/db21-0056. Epub 2021 Jul 9. PMID: 34244239
Cerebral small-vessel disease is associated with the severity of diabetic retinopathy in type 1 diabetes.
Eriksson MI, Summanen P, Gordin D, Forsblom C, Shams S, Liebkind R, Tatlisumak T, Putaala J, Groop PH, Martola J, Thorn LM; FinnDiane Study Group. BMJ Open Diabetes Res Care. 2021 Aug;9(1):e002274. doi: 10.1136/bmjdrc-2021-002274. PMID: 34429281 Free PMC article.
Presence and Determinants of Cardiovascular Disease and Mortality in Individuals With Type 1 Diabetes of Long Duration: The FinnDiane 50 Years of Diabetes Study.
Harjutsalo V, Barlovic DP, Gordin D, Forsblom C, King G, Groop PH; FinnDiane Study Group. Diabetes Care. 2021 Aug;44(8):1885-1893. doi: 10.2337/dc20-2816. Epub 2021 Jun 23. PMID: 34162664
Long-term population-based trends in the incidence of cardiovascular disease in individuals with type 1 diabetes from Finland: a retrospective, nationwide, cohort study.
Harjutsalo V, Pongrac Barlovic D, Groop PH. Lancet Diabetes Endocrinol. 2021 Sep;9(9):575-585. doi: 10.1016/S2213-8587(21)00172-8. Epub 2021 Jul 22. PMID: 34303414
Novel Linkage Peaks Discovered for Diabetic Nephropathy in Individuals With Type 1 Diabetes. Haukka J, Sandholm N, Valo E, Forsblom C, Harjutsalo V, Cole JB, McGurnaghan SJ, Colhoun HM, Groop PH; FinnDiane Study Group. Diabetes. 2021 Apr;70(4):986-995. doi: 10.2337/db20-0158. Epub 2021 Jan 7. PMID: 33414249 Free article.
Primary kidney disease modifies the effect of comorbidities on kidney replacement therapy patients' survival. Helve J, Haapio M, Groop PH, Finne P. PLoS One. 2021 Aug 20;16(8):e0256522. doi: 10.1371/journal.pone.0256522. eCollection 2021. PMID: 34415958 Free PMC article.
Carotid intima-media thickness and arterial stiffness in relation to cerebral small vessel disease in neurologically asymptomatic individuals with type 1 diabetes.
Inkeri J, Tynjälä A, Forsblom C, Liebkind R, Tatlisumak T, Thorn LM, Groop PH, Shams S, Putaala J, Martola J, Gordin D; FinnDiane Study Group. Acta Diabetol. 2021 Jul;58(7):929-937. doi: 10.1007/s00592-021-01678-x. Epub 2021 Mar 20. PMID: 33743083 Free PMC article.
Glycemic control is not related to cerebral small vessel disease in neurologically asymptomatic individuals with type 1 diabetes.
Inkeri J, Adeshara K, Harjutsalo V, Forsblom C, Liebkind R, Tatlisumak T, Thorn LM, Groop PH, Shams S, Martola J, Putaala J, Gordin D; FinnDiane Study Group. Acta Diabetol. 2021 Nov 15. doi: 10.1007/s00592-021-01821-8. Online ahead of print. PMID: 34778921
Remnant cholesterol predicts progression of diabetic nephropathy and retinopathy in type 1 diabetes.
Jansson Sigfrids F, Dahlström EH, Forsblom C, Sandholm N, Harjutsalo V, Taskinen MR, Groop PH. J Intern Med. 2021 Sep;290(3):632-645. doi: 10.1111/joim.13298. Epub 2021 May 8. PMID: 33964025
Apolipoprotein C-III predicts cardiovascular events and mortality in individuals with type 1 diabetes and albuminuria.
Jansson Sigfrids F, Stechemesser L, Dahlström EH, Forsblom CM, Harjutsalo V, Weitgasser R, Taskinen MR, Groop PH; FinnDiane Study Group. J Intern Med. 2021 Nov 24. doi: 10.1111/joim.13412. Online ahead of print. PMID: 34817888
Persons with type 1 diabetes have low blood oxygen levels in the supine and standing body positions.
Laursen JC, Clemmensen KKB, Hansen CS, Diaz LJ, Bordino M, Groop PH, Frimodt-Moller M, Bernardi L, Rossing P. BMJ Open Diabetes Res Care. 2021 May;9(1):e001944. doi: 10.1136/bmjdrc-2020-001944. PMID: 34059524 Free PMC article.
Acute effects of dapagliflozin on renal oxygenation and perfusion in type 1 diabetes with albuminuria: A randomised, double-blind, placebo-controlled crossover trial.
Laursen JC, Søndergaard-Heinrich N, de Melo JML, Haddock B, Rasmussen IKB, Safavimanesh F, Hansen CS, Størling J, Larsson HBW, Groop PH, Frimodt-Møller M, Andersen UB, Rossing P. EClinicalMedicine. 2021 Jun 28;37:100895. doi: 10.1016/j.eclinm.2021.100895. eCollection 2021 Jul. PMID: 34386735 Free PMC article.
Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke. Leskelä J, Toppila I, Härma MA, Palviainen T, Salminen A, Sandholm N, Pietiäinen M, Kopra E, Pais de Barros JP; FinnGen, Lassenius MI, Kumar A, Harjutsalo V, Roslund K, Forsblom C, Loukola A, Havulinna AS, Lagrost L, Salomaa V, Groop PH, Perola M, Kaprio J, Lehto M, Pussinen PJ. J Am Heart Assoc. 2021 Nov 2;10(21):e022482. doi: 10.1161/JAHA.121.022482. Epub 2021 Oct 20. PMID: 34668383 Free PMC article.
Adiponectin receptor agonist AdipoRon ameliorates renal inflammation in diet-induced obese mice and endotoxin-treated human glomeruli ex vivo.
Lindfors S, Polianskyte-Prause Z, Bouslama R, Lehtonen E, Mannerla M, Nisen H, Tienari J, Salmenkari H, Forsgård R, Mirtti T, Lehto M, Groop PH, Lehtonen S. Diabetologia. 2021 Aug;64(8):1866-1879. doi: 10.1007/s00125-021-05473-9. Epub 2021 May 14. PMID: 33987714 Free PMC article.
Differential metabolomic signatures of declining renal function in Types 1 and 2 diabetes.
Manca ML, Solini A, Haukka JK, Sandholm N, Forsblom C, Groop PH, Ferrannini E. Nephrol Dial Transplant. 2021 Sep 27;36(10):1859-1866. doi: 10.1093/ndt/gfaa175. PMID: 32995893
Endothelial Dysfunction is Associated With Early-Onset Cryptogenic Ischemic Stroke in Men and With Increasing Age.
Martinez-Majander N, Gordin D, Joutsi-Korhonen L, Salopuro T, Adeshara K, Sibolt G, Curtze S, Pirinen J, Liebkind R, Soinne L, Sairanen T, Sinisalo J, Lehto M, Groop PH, Tatlisumak T, Putaala J. J Am Heart Assoc. 2021 Jul 20;10(14):e020838. doi: 10.1161/JAHA.121.020838. Epub 2021 Jul 6. PMID: 34227391 Free PMC article.
Urinary metabolite profiling and risk of progression of diabetic nephropathy in 2670 individuals with type 1 diabetes.
Mutter S, Valo E, Aittomäki V, Nybo K, Raivonen L, Thorn LM, Forsblom C, Sandholm N, Würtz P, Groop PH. Diabetologia. 2022 Jan;65(1):140-149. doi: 10.1007/s00125-021-05584-3. Epub 2021 Oct 22. PMID: 34686904 Free PMC article.
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes.
Mychaleckyj JC, Valo E, Ichimura T, Ahluwalia TS, Dina C, Miller RG, Shabalin IG, Gyorgy B, Cao J, Onengut-Gumuscu S, Satake E, Smiles AM, Haukka JK, Tregouet DA, Costacou T, O'Neil K, Paterson AD, Forsblom C, Keenan HA, Pezzolesi MG, Pragnell M, Galecki A, Rich SS, Sandholm N, Klein R, Klein BE, Susztak K, Orchard TJ, Korstanje R, King GL, Hadjadj S, Rossing P, Bonventre JV, Groop PH, Warram JH, Krolewski AS. J Am Soc Nephrol. 2021 Oct;32(10):2634-2651. doi: 10.1681/ASN.2020101457. Epub 2021 Jul 14. PMID: 34261756
The pattern-recognition molecule H-ficolin in relation to diabetic kidney disease, mortality, and cardiovascular events in type 1 diabetes.
Østergaard JA, Jansson Sigfrids F, Forsblom C, Dahlström EH, Thorn LM, Harjutsalo V, Flyvbjerg A, Thiel S, Hansen TK, Groop PH. Sci Rep. 2021 Apr 26;11(1):8919. doi: 10.1038/s41598-021-88352-y. PMID: 33903634 Free PMC article. Clinical Trial.
The Relationship Between Body Fat Distribution and Nonalcoholic Fatty Liver in Adults With Type 1 Diabetes.
Parente EB, Dahlström EH, Harjutsalo V, Inkeri J, Mutter S, Forsblom C, Sandholm N, Gordin D, Groop PH; FinnDiane Study Group. Diabetes Care. 2021 Jul;44(7):1706-1713. doi: 10.2337/dc20-3175. Epub 2021 May 24. PMID: 34031143
The impact of central obesity on the risk of hospitalization or death due to heart failure in type 1 diabetes: a 16-year cohort study.
Parente EB, Harjutsalo V, Forsblom C, Groop PH; FinnDiane Study Group. Cardiovasc Diabetol. 2021 Jul 27;20(1):153. doi: 10.1186/s12933-021-01340-4. PMID: 34315479 Free PMC article.
Waist-Height Ratio and the Risk of Severe Diabetic Eye Disease in Type 1 Diabetes: A 15-Year Cohort Study.
Parente EB, Harjutsalo V, Forsblom C, Groop PH. J Clin Endocrinol Metab. 2022 Jan 18;107(2):e653-e662. doi: 10.1210/clinem/dgab671.Epub: 2021 Sept 11. PMID: 34508598 Free PMC article.
Identifying volatile in vitro biomarkers for oral bacteria with proton-transfer-reaction mass spectrometry and gas chromatography-mass spectrometry.
Roslund K, Lehto M, Pussinen P, Hartonen K, Groop PH, Halonen L, Metsälä M. Sci Rep. 2021 Aug 19;11(1):16897. doi: 10.1038/s41598-021-96287-7. PMID: 34413397 Free PMC article.
Genetic factors affect the susceptibility to bacterial infections in diabetes.
Simonsen JR, Käräjämäki A, Antikainen AA, Toppila I, Ahlqvist E, Prasad R, Mansour-Aly D, Harjutsalo V, Järvinen A, Tuomi T, Groop L, Forsblom C, Groop PH, Sandholm N, Lehto M. Sci Rep. 2021 May 4;11(1):9464. doi: 10.1038/s41598-021-88273-w. PMID: 33947878 Free PMC article.
Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease: an exploratory study.
Smyth LJ, Kilner J, Nair V, Liu H, Brennan E, Kerr K, Sandholm N, Cole J, Dahlström E, Syreeni A, Salem RM, Nelson RG, Looker HC, Wooster C, Anderson K, McKay GJ, Kee F, Young I, Andrews D, Forsblom C, Hirschhorn JN, Godson C, Groop PH, Maxwell AP, Susztak K, Kretzler M, Florez JC, McKnight AJ. Clin Epigenetics. 2021 May 1;13(1):99. doi: 10.1186/s13148-021-01081-x. PMID: 33933144 Free PMC article.
Genome-wide search for genes affecting the age at diagnosis of type 1 diabetes.
Syreeni A, Sandholm N, Sidore C, Cucca F, Haukka J, Harjutsalo V, Groop PH; FinnDiane Study Group. J Intern Med. 2021 May;289(5):662-674. doi: 10.1111/joim.13187. Epub 2020 Nov 11. PMID: 33179336 Free PMC article.
Response to Comment on Tynjälä et al. Arterial Stiffness Predicts Mortality in Individuals With Type 1 Diabetes.
Tynjälä A, Forsblom C, Harjutsalo V, Groop PH, Gordin D; FinnDiane Study Group. Diabetes Care. 2021 Apr;44(4):e71-e72. Diabetes Care 2020;43:2266-2271. doi: 10.2337/dci20-0074. PMID: 33741700
Molecular pathways behind acquired obesity: Adipose tissue and skeletal muscle multiomics in monozygotic twin pairs discordant for BMI.
van der Kolk BW, Saari S, Lovric A, Arif M, Alvarez M, Ko A, Miao Z, Sahebekhtiari N, Muniandy M, Heinonen S, Oghabian A, Jokinen R, Jukarainen S, Hakkarainen A, Lundbom J, Kuula J, Groop PH, Tukiainen T, Lundbom N, Rissanen A, Kaprio J, Williams EG, Zamboni N, Mardinoglu A, Pajukanta P, Pietiläinen KH. Cell Rep Med. 2021 Mar 30;2(4):100226. doi: 10.1016/j.xcrm.2021.100226. eCollection 2021 Apr 20. PMID: 33948567 Free PMC article.
Genome-Wide Association Study of Peripheral Artery Disease.
van Zuydam NR, Stiby A, Abdalla M, Austin E, Dahlström EH, McLachlan S, Vlachopoulou E, Ahlqvist E, Di Liao C, Sandholm N, Forsblom C, Mahajan A, Robertson NR, Rayner NW, Lindholm E, Sinisalo J, Perola M, Kallio M, Weiss E, Price J, Paterson A, Klein B, Salomaa V, Palmer CNA, Groop PH, Groop L, McCarthy MI, de Andrade M, Morris AP, Hopewell JC, Colhoun HM, Kullo IJ; GoLEAD Consortium, SUMMIT Consortium†. Circ Genom Precis Med. 2021 Oct;14(5):e002862. doi: 10.1161/CIRCGEN.119.002862. Epub 2021 Oct 4. PMID: 34601942 Free PMC article.
Faecal biomarkers in type 1 diabetes with and without diabetic nephropathy.
Winther SA, Mannerla MM, Frimodt-Møller M, Persson F, Hansen TW, Lehto M, Hörkkö S, Blaut M, Forsblom C, Groop PH, Rossing P. Sci Rep. 2021 Jul 26;11(1):15208. doi: 10.1038/s41598-021-94747-8. PMID: 34312454 Free PMC article.
The impact of parental risk factors on the risk of stroke in type 1 diabetes.
Ylinen A, Hägg-Holmberg S, Eriksson MI, Forsblom C, Harjutsalo V, Putaala J, Groop PH, Thorn LM; FinnDiane Study Group. Acta Diabetol. 2021 Jul;58(7):911-917. doi: 10.1007/s00592-021-01694-x. Epub 2021 Mar 15. PMID: 33721078 Free PMC article.
Other Publication Valma Harjutsalo
Tyypin 1 diabetes ja muut autoimmuunisairaudet.
Mäkimattila S, Harjutsalo V. Duodecim 2021; 137(22): 2419–2425 (Review)
https://www.duodecimlehti.fi/lehti/2021/22/duo16528?keyword=Harjutsalo
Original Articles Mikael Knip
Anand V, Li Y, Liu B, Ghalwash M, Koski E, Ng K, Dunne JL, Jönsson J, Winkler C, Knip M, Toppari J, Ilonen J, Killian MB, Frohnert BI, Lundgren M, Ziegler AG, Hagopian W, Veijola R, Rewers M; T1DI Study Group. Diabetes Care. 2021 Jun 23:dc201836. doi: 10.2337/dc20-1836. Online ahead of print. PMID: 34162665
Hakola L, Erlund I, Cuthbertson D, Miettinen ME, Autio R, Nucci AM, Härkönen T, Honkanen J, Vaarala O, Hyöty H, Knip M, Krischer JP, Niinistö S, Virtanen SM; TRIGR Investigators. Pediatr Diabetes. 2021 Jun;22(4):577-585. doi: 10.1111/pedi.13189. Epub 2021 Feb 24. PMID: 33543815
Generation of self-reactive, shared T-cell receptor α chains in the human thymus.
Heikkilä N, Sormunen S, Mattila J, Härkönen T, Knip M, Ihantola EL, Kinnunen T, Mattila IP, Saramäki J, Arstila TP. J Autoimmun. 2021 May;119:102616. doi: 10.1016/j.jaut.2021.102616. Epub 2021 Feb 27. PMID: 33652347
Consumption of differently processed milk products and the risk of asthma in children.
Koivusaari K, Syrjälä E, Niinistö S, Ahonen S, Åkerlund M, Korhonen TE, Toppari J, Ilonen J, Kaila M, Knip M, Alatossava T, Veijola R, Virtanen SM. Pediatr Allergy Immunol. 2022 Jan;33(1):e13659. doi: 10.1111/pai.13659. Epub 2021 Sep 12. PMID: 34472138
Increasing plasma glucose before the development of type 1 diabetes-the TRIGR study.
Ludvigsson J, Cuthbertson D, Becker DJ, Kordonouri O, Aschemeier B, Pacaud D, Clarson C, Krischer JP, Knip M; TRIGR Investigators. Pediatr Diabetes. 2021 Nov;22(7):974-981. doi: 10.1111/pedi.13251. Epub 2021 Sep 7. PMID: 34369627
Maleta K, Fan YM, Luoma J, Ashorn U, Bendabenda J, Dewey KG, Hyöty H, Knip M, Kortekangas E, Lehto KM, Matchado A, Nkhoma M, Nurminen N, Parkkila S, Purmonen S, Veijola R, Oikarinen S, Ashorn P. Am J Clin Nutr. 2021 Feb 2;113(2):380-390. doi: 10.1093/ajcn/nqaa327. PMID: 33381802
Mattila M, Hakola L, Niinistö S, Tapanainen H, Takkinen HM, Ahonen S, Ilonen J, Toppari J, Veijola R, Knip M, Virtanen SM. Nutrients. 2021 Mar 13;13(3):928. doi: 10.3390/nu13030928. PMID: 33805588
Miettinen ME, Honkanen J, Niinistö S, Vaarala O, Virtanen SM, Knip M; DIABIMMUNE Study Group. Diabetologia. 2022 Feb;65(2):329-335. doi: 10.1007/s00125-021-05612-2. Epub 2021 Nov 27. PMID: 34837504
Allergy-Related Symptoms Are Poorly Predicted by IgE and Skin Prick Testing in Early Life.
Mustonen N, Siljander H, Niemelä O, Ilonen J, Haahtela T, Knip M; DIABIMMUNE Study Group. Int Arch Allergy Immunol. 2021;182(7):574-584. doi: 10.1159/000512109. Epub 2021 Feb 5. PMID: 33550294
Growth and development of islet autoimmunity and type 1 diabetes in children genetically at risk.
Nucci AM, Virtanen SM, Cuthbertson D, Ludvigsson J, Einberg U, Huot C, Castano L, Aschemeier B, Becker DJ, Knip M, Krischer JP; TRIGR Investigators. Diabetologia. 2021 Apr;64(4):826-835. doi: 10.1007/s00125-020-05358-3. Epub 2021 Jan 21. PMID: 33474583
Land Cover of Early-Life Environment Modulates the Risk of Type 1 Diabetes.
Nurminen N, Cerrone D, Lehtonen J, Parajuli A, Roslund M, Lönnrot M, Ilonen J, Toppari J, Veijola R, Knip M, Rajaniemi J, Laitinen OH, Sinkkonen A, Hyöty H. Diabetes Care. 2021 Jul;44(7):1506-1514. doi: 10.2337/dc20-1719. Epub 2021 May 5. PMID: 33952607
Parkkola A, Turtinen M, Härkönen T, Ilonen J, Knip M; Finnish Pediatric Diabetes Register. Diabetologia. 2021 Mar;64(3):581-590. doi: 10.1007/s00125-020-05342-x. Epub 2020 Dec 17. PMID: 33331974
Reinert-Hartwall L, Siljander H, Härkönen T, Vatanen T, Ilonen J, Niemelä O, Luopajärvi K, Dorshakova N, Mokurov S, Peet A, Tillmann V, Uibo R, Knip M, Vaarala O, Honkanen J; DIABIMMUNE study group. Pediatr Allergy Immunol. 2022 Jan;33(1):e13613. doi: 10.1111/pai.13613. Epub 2021 Aug 17. PMID: 34379817
Immunomodulatory Effects of Rhinovirus and Enterovirus Infections During the First Year of Life.
Ruohtula T, Kondrashova A, Lehtonen J, Oikarinen S, Hämäläinen AM, Niemelä O, Peet A, Tillmann V, Nieminen JK, Ilonen J, Knip M, Vaarala O, Hyöty H; DIABIMMUNE Study Group. Front Immunol. 2021 Feb 11;11:567046. doi: 10.3389/fimmu.2020.567046. eCollection 2020. PMID: 33643278
Determining the timing of pubertal onset via a multicohort analysis of growth.
Syrjälä E, Niinikoski H, Virtanen HE, Ilonen J, Knip M, Hutri-Kähönen N, Pahkala K, Raitakari OT, Rodprasert W, Toppari J, Virtanen SM, Veijola R, Peltonen J, Nevalainen J. PLoS One. 2021 Nov 18;16(11):e0260137. doi: 10.1371/journal.pone.0260137. eCollection 2021. PMID: 34793547
Tuokkola J, Lamminsalo A, Metsälä J, Takkinen HM, Tapanainen H, Åkerlund M, Niinistö S, Toppari J, Ilonen J, Veijola R, Knip M, Kaila M, Virtanen SM. Br J Nutr. 2021 Jun 28;125(12):1386-1393. doi: 10.1017/S0007114520003633. Epub 2020 Sep 18. PMID: 32943116
Virtanen SM, Cuthbertson D, Nucci AM, Hyytinen M, Ormisson A, Salonen M, Turrini T, Cummings EA, Bradley B, Tanner-Blasiar M, Becker DJ, Åkerblom HK, Savilahti E, Krischer JP, Knip M; TRIGR Investigators. Food Sci Nutr. 2021 Jun 23;9(8):4221-4231. doi: 10.1002/fsn3.2389. eCollection 2021 Aug. PMID: 34401073
Original Articles Tiinamaija Tuomi
Accuracy of 1-Hour Plasma Glucose During the Oral Glucose Tolerance Test in Diagnosis of Type 2 Diabetes in Adults: A Meta-analysis.
Ahuja V, Aronen P, Pramodkumar TA, Looker H, Chetrit A, Bloigu AH, Juutilainen A, Bianchi C, La Sala L, Anjana RM, Pradeepa R, Venkatesan U, Jebarani S, Baskar V, Fiorentino TV, Timpel P, DeFronzo RA, Ceriello A, Del Prato S, Abdul-Ghani M, Keinänen-Kiukaanniemi S, Dankner R, Bennett PH, Knowler WC, Schwarz P, Sesti G, Oka R, Mohan V, Groop L, Tuomilehto J, Ripatti S, Bergman M, Tuomi T. Diabetes Care. 2021 Apr;44(4):1062-1069. doi: 10.2337/dc20-1688. PMID: 33741697
Barreiro K, Dwivedi OP, Valkonen S, Groop PH, Tuomi T, Holthofer H, Rannikko A, Yliperttula M, Siljander P, Laitinen S, Serkkola E, Af Hällström T, Forsblom C, Groop L, Puhka M. J Extracell Vesicles. 2021 Oct;10(12):e12158. doi: 10.1002/jev2.12158. PMID: 34651466
Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, Tai ES, Tam CHT, Teo YY, Thameem F, Tomlinson B, Tracy RP, Tuomi T, Tuomilehto J, Tusié-Luna T, van Dam RM, Vasan RS, Wilson JG, Witte DR, Wong TY; AMP-T2D-GENES Consortia, Burtt NP, Zaitlen N, McCarthy MI, Boehnke M, Pollin TI, Flannick J, Mercader JM, O'Donnell-Luria A, Baxter S, Florez JC, MacArthur DG, Udler MS. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. PMID: 34108472
Herzog K, Ahlqvist E, Alfredsson L, Groop L, Hjort R, Löfvenborg JE, Tuomi T, Carlsson S. Diabetes Res Clin Pract. 2021 Apr;174:108760. doi: 10.1016/j.diabres.2021.108760. Epub 2021 Mar 17. PMID: 33744376
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, Mathias RA, McGarvey ST, McPherson R, Meigs JB, Meitinger T, Melander O, Mendoza-Caamal E, Metcalf GA, Mi X, Mohlke KL, Montasser ME, Moon JY, Moreno-Macías H, Morrison AC, Muzny DM, Nelson SC, Nilsson PM, O'Connell JR, Orho-Melander M, Orozco L, Palmer CNA, Palmer ND, Park CJ, Park KS, Pedersen O, Peralta JM, Peyser PA, Post WS, Preuss M, Psaty BM, Qi Q, Rao DC, Redline S, Reiner AP, Revilla-Monsalve C, Rich SS, Samani N, Schunkert H, Schurmann C, Seo D, Seo JS, Sim X, Sladek R, Small KS, So WY, Stilp AM, Tai ES, Tam CHT, Taylor KD, Teo YY, Thameem F, Tomlinson B, Tsai MY, Tuomi T, Tuomilehto J, Tusié-Luna T, Udler MS, van Dam RM, Vasan RS, Viaud Martinez KA, Wang FF, Wang X, Watkins H, Weeks DE, Wilson JG, Witte DR, Wong TY, Yanek LR; AMP-T2D-GENES, Myocardial Infarction Genetics Consortium; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; NHLBI TOPMed Lipids Working Group, Kathiresan S, Rader DJ, Rotter JI, Boehnke M, McCarthy MI, Willer CJ, Natarajan P, Flannick JA, Khera AV, Peloso GM. Am J Hum Genet. 2022 Jan 6;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021. Epub 2021 Dec 20. PMID: 34932938
Jujić A, Nilsson PM, Atabaki-Pasdar N, Dieden A, Tuomi T, Franks PW, Holst JJ, Torekov SS, Ravassa S, Díez J, Persson M, Ahlqvist E, Melander O, Gomez MF, Groop L, Magnusson M. Diabetes Care. 2021 Jan;44(1):224-230. doi: 10.2337/dc20-1318. Epub 2020 Nov 18. PMID: 33208488
Kettunen JLT, Rantala E, Dwivedi OP, Isomaa B, Sarelin L, Kokko P, Hakaste L, Miettinen PJ, Groop LC, Tuomi T. Diabetologia. 2021 Dec 24. doi: 10.1007/s00125-021-05631-z. Online ahead of print. PMID: 34951657
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Lagou V, Mägi R, Hottenga JJ, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D, Jansen R, Min JL, Dimas AS, Ulrich A, Zudina L, Gådin JR, Jiang L, Faggian A, Bonnefond A, Fadista J, Stathopoulou MG, Isaacs A, Willems SM, Navarro P, Tanaka T, Jackson AU, Montasser ME, O'Connell JR, Bielak LF, Webster RJ, Saxena R, Stafford JM, Pourcain BS, Timpson NJ, Salo P, Shin SY, Amin N, Smith AV, Li G, Verweij N, Goel A, Ford I, Johnson PCD, Johnson T, Kapur K, Thorleifsson G, Strawbridge RJ, Rasmussen-Torvik LJ, Esko T, Mihailov E, Fall T, Fraser RM, Mahajan A, Kanoni S, Giedraitis V, Kleber ME, Silbernagel G, Meyer J, Müller-Nurasyid M, Ganna A, Sarin AP, Yengo L, Shungin D, Luan J, Horikoshi M, An P, Sanna S, Boettcher Y, Rayner NW, Nolte IM, Zemunik T, Iperen EV, Kovacs P, Hastie ND, Wild SH, McLachlan S, Campbell S, Polasek O, Carlson O, Egan J, Kiess W, Willemsen G, Kuusisto J, Laakso M, Dimitriou M, Hicks AA, Rauramaa R, Bandinelli S, Thorand B, Liu Y, Miljkovic I, Lind L, Doney A, Perola M, Hingorani A, Kivimaki M, Kumari M, Bennett AJ, Groves CJ, Herder C, Koistinen HA, Kinnunen L, Faire U, Bakker SJL, Uusitupa M, Palmer CNA, Jukema JW, Sattar N, Pouta A, Snieder H, Boerwinkle E, Pankow JS, Magnusson PK, Krus U, Scapoli C, de Geus EJCN, Blüher M, Wolffenbuttel BHR, Province MA, Abecasis GR, Meigs JB, Hovingh GK, Lindström J, Wilson JF, Wright AF, Dedoussis GV, Bornstein SR, Schwarz PEH, Tönjes A, Winkelmann BR, Boehm BO, März W, Metspalu A, Price JF, Deloukas P, Körner A, Lakka TA, Keinanen-Kiukaanniemi SM, Saaristo TE, Bergman RN, Tuomilehto J, Wareham NJ, Langenberg C, Männistö S, Franks PW, Hayward C, Vitart V, Kaprio J, Visvikis-Siest S, Balkau B, Altshuler D, Rudan I, Stumvoll M, Campbell H, van Duijn CM, Gieger C, Illig T, Ferrucci L, Pedersen NL, Pramstaller PP, Boehnke M, Frayling TM, Shuldiner AR, Peyser PA, Kardia SLR, Palmer LJ, Penninx BW, Meneton P, Harris TB, Navis G, Harst PV, Smith GD, Forouhi NG, Loos RJF, Salomaa V, Soranzo N, Boomsma DI, Groop L, Tuomi T, Hofman A, Munroe PB, Gudnason V, Siscovick DS, Watkins H, Lecoeur C, Vollenweider P, Franco-Cereceda A, Eriksson P, Jarvelin MR, Stefansson K, Hamsten A, Nicholson G, Karpe F, Dermitzakis ET, Lindgren CM, McCarthy MI, Froguel P, Kaakinen MA, Lyssenko V, Watanabe RM, Ingelsson E, Florez JC, Dupuis J, Barroso I, Morris AP, Prokopenko I; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC). Nat Commun. 2021 Jan 5;12(1):24. doi: 10.1038/s41467-020-19366-9. PMID: 33402679
Lessmark A, Hatem G, Kovacs G, Vitai M, Ahlqvist E, Tuomi T, Koranyi L, Groop L, Prasad RB. Genes (Basel). 2021 Dec 29;13(1):91. doi: 10.3390/genes13010091. PMID: 35052431
Consumption of red meat, genetic susceptibility, and risk of LADA and type 2 diabetes.
Löfvenborg JE, Ahlqvist E, Alfredsson L, Andersson T, Groop L, Tuomi T, Wolk A, Carlsson S. Eur J Nutr. 2021 Mar;60(2):769-779. doi: 10.1007/s00394-020-02285-2. Epub 2020 May 22. PMID: 32444887
Mansour Aly D, Dwivedi OP, Prasad RB, Käräjämäki A, Hjort R, Thangam M, Åkerlund M, Mahajan A, Udler MS, Florez JC, McCarthy MI; Regeneron Genetics Center, Brosnan J, Melander O, Carlsson S, Hansson O, Tuomi T, Groop L, Ahlqvist E. Nat Genet. 2021 Nov;53(11):1534-1542. doi: 10.1038/s41588-021-00948-2. Epub 2021 Nov 4. PMID: 34737425
Prasad RB, Asplund O, Shukla SR, Wagh R, Kunte P, Bhat D, Parekh M, Shah M, Phatak S, Käräjämäki A, Datta A, Kakati S, Tuomi T, Saboo B, Ahlqvist E, Groop L, Yajnik CS. Diabetologia. 2022 Jan;65(1):65-78. doi: 10.1007/s00125-021-05543-y. Epub 2021 Oct 23. PMID: 34689214
Ruotsalainen SE, Partanen JJ, Cichonska A, Lin J, Benner C, Surakka I; FinnGen, Reeve MP, Palta P, Salmi M, Jalkanen S, Ahola-Olli A, Palotie A, Salomaa V, Daly MJ, Pirinen M, Ripatti S, Koskela J. Eur J Hum Genet. 2021 Feb;29(2):309-324. doi: 10.1038/s41431-020-00730-8. Epub 2020 Oct 27. PMID: 33110245
Genetic factors affect the susceptibility to bacterial infections in diabetes.
Simonsen JR, Käräjämäki A, Antikainen AA, Toppila I, Ahlqvist E, Prasad R, Mansour-Aly D, Harjutsalo V, Järvinen A, Tuomi T, Groop L, Forsblom C, Groop PH, Sandholm N, Lehto M. Sci Rep. 2021 May 4;11(1):9464. doi: 10.1038/s41598-021-88273-w. PMID: 33947878
Strausz S, Ruotsalainen S, Ollila HM, Karjalainen J, Kiiskinen T, Reeve M, Kurki M, Mars N, Havulinna AS, Luonsi E, Mansour Aly D, Ahlqvist E, Teder-Laving M, Palta P, Groop L, Mägi R, Mäkitie A, Salomaa V, Bachour A, Tuomi T; FinnGen, Palotie A, Palotie T, Ripatti S. Eur Respir J. 2021 May 6;57(5):2003091. doi: 10.1183/13993003.03091-2020. Print 2021 May. PMID: 33243845
Consortia publications Tiinamaija Tuomi
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team, Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. PMID: 33627673
Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
Liuska PJ, Lemmelä S, Havulinna AS, Kaarniranta K, Uusitalo H, Laivuori H, Kiiskinen T, Daly MJ, Palotie A, Turunen JA; FinnGen Consortium. JAMA Ophthalmol. 2021 Jul 1;139(7):762-768. doi: 10.1001/jamaophthalmol.2021.1610. PMID: 34081096
Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, Wolford B, Brody JA, Antonacci-Fulton L, Arden M, Aslibekyan S, Assimes TL, Ballantyne CM, Bielak LF, Bis JC, Cade BE, Do R, Doddapaneni H, Emery LS, Hung YJ, Irvin MR, Khan AT, Lange L, Lee J, Lemaitre RN, Martin LW, Metcalf G, Montasser ME, Moon JY, Muzny D, O'Connell JR, Palmer ND, Peralta JM, Peyser PA, Stilp AM, Tsai M, Wang FF, Weeks DE, Yanek LR, Wilson JG, Abecasis G, Arnett DK, Becker LC, Blangero J, Boerwinkle E, Bowden DW, Chang YC, Chen YI, Choi WJ, Correa A, Curran JE, Daly MJ, Dutcher SK, Ellinor PT, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, He J, Hveem K, Jarvik GP, Kaplan RC, Kardia SLR, Kenny E, Kim RW, Kooperberg C, Laurie CC, Lee S, Lloyd-Jones DM, Loos RJF, Lubitz SA, Mathias RA, Martinez KAV, McGarvey ST, Mitchell BD, Nickerson DA, North KE, Palotie A, Park CJ, Psaty BM, Rao DC, Redline S, Reiner AP, Seo D, Seo JS, Smith AV, Tracy RP, Vasan RS, Kathiresan S, Cupples LA, Rotter JI, Morrison AC, Rich SS, Ripatti S, Willer C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; FinnGen, Peloso GM. Nat Commun. 2021 Apr 12;12(1):2182. doi: 10.1038/s41467-021-22339-1. PMID: 33846329
Palomäki A; FinnGen Rheumatology Clinical Expert Group, Palotie A, Koskela J, Eklund KK, Pirinen M; FinnGen, Ripatti S, Laitinen T, Mars N. Ann Rheum Dis. 2021 Dec;80(12):1530-1536. doi: 10.1136/annrheumdis-2021-220698. Epub 2021 Aug 3. PMID: 34344703
Sleep apnoea is a risk factor for severe COVID-19.
Strausz S, Kiiskinen T, Broberg M, Ruotsalainen S, Koskela J, Bachour A; FinnGen, Palotie A, Palotie T, Ripatti S, Ollila HM. BMJ Open Respir Res. 2021 Jan;8(1):e000845. doi: 10.1136/bmjresp-2020-000845. PMID: 33436406
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium, Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P. Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0. Epub 2021 Jun 7. PMID: 34099924
Other Publications Tiinamaija Tuomi
A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use-The P5 Study.
Marjonen H, Marttila M, Paajanen T, Vornanen M, Brunfeldt M, Joensuu A, Halmesvaara O, Aro K, Alanne-Kinnunen M, Jousilahti P, Borodulin K, Koskinen S, Tuomi T, Ilanne-Parikka P, Lindström J, Laine MK, Auro K, Kääriäinen H, Perola M, Kristiansson K. Front Genet. 2021 Oct 29;12:763159. doi: 10.3389/fgene.2021.763159. eCollection 2021. PMID: 34777479 (Review)
Genetic Epidemiology
Original Articles Heli Viljakainen
Engberg E, Leppänen MH, Sarkkola C, Viljakainen H. J Phys Act Health. 2021 Jul 29;18(9):1105-1112. doi: 10.1123/jpah.2021-0163.
Saliva microbiota differs between children with low and high sedentary screen times.
Engberg E, Raju SC, Figueiredo RAO, Weiderpass E, Rounge TB, Viljakainen H. Hum Microbiome J. 2021 April 21. doi: 10.1016/j.humic.2021.100080.
Gustafsson J, Ojala A, Hiltunen P, Engberg E, Wiklund-Engblom A, Törnwall N, Roos E, Ray C. Int J Environ Res Public Health. 2021 Jun 25;18(13):6814. doi: 10.3390/ijerph18136814.
Huvinen E, Tuomaala AK, Bergman PH, Meinilä J, Tammelin T, Kulmala J, Engberg E, Koivusalo SB. J Clin Endocrinol Metab. 2021 Apr 23;106(5):e1993-e2004. doi: 10.1210/clinem/dgaa979.
Temperament, physical activity and sedentary time in preschoolers - the DAGIS study.
Leppänen MH, Kaseva K, Pajulahti R, Sääksjärvi K, Mäkynen E, Engberg E, Ray C, Erkkola M, Sajaniemi N, Roos E. BMC Pediatr. 2021 Mar 16;21(1):129. doi: 10.1186/s12887-021-02593-4.
Lommi S, Engberg E, Tuorila H, Kolho K-L, Viljakainen H. Brit J Nutr. 2021 Nov 28;126(10):1592-1600. doi: 10.1017/S0007114521001112.
High abundance of sugar metabolisers in saliva of children with caries.
Manzoor M, Lommi S, Furuholm J, Sarkkola C, Engberg E, Raju S, Viljakainen H. Sci Rep. 2021 Feb 24;11(1):4424. doi: 10.1038/s41598-021-83846-1.
Meinilä J, Klemetti MM, Huvinen E, Engberg E, Andersson S, Stach-Lempinen B, Koivusalo S. Int J Obes (Lond). 2021 May;45(5):1030-1043. doi: 10.1038/s41366-021-00762-0.
Serum and Urinary Osteocalcin in Healthy 7- to 19-Year-Old Finnish Children and Adolescents.
Paldánius PM, Ivaska KK, Mäkitie O, Viljakainen H. Front Pediatr. 2021 Aug 24;9:610227. doi: 10.3389/fped.2021.610227.
Räisänen L, Lommi S, Engberg E, Kolho K-L, Viljakainen H. Pediatr Obes. 2022 Mar;17(3):e12857. Epub 2021 Oct 4;e12857. doi: 10.1111/ijpo.12857.
Räisänen L, Viljakainen H, Sarkkola C, Kolho K-L. Eur J Pediatr. 2021 Jul;180(7):2115-2123. doi: 10.1007/s00431-021-03987-3.
Sarkkola C,Viljakainen J, Figueiredo RAO, Saari A, Lommi S, Engberg E, Viljakainen H. Obes Facts. 2021 Dec 22. doi: 10.1159/000521170.
Tuovinen S, Räikkönen K, Holmlund-Suila E, Hauta-Alus H, Helve O, Rosendahl J, Enlund-Cerullo M, Kajantie E, Valkama S, Viljakainen H, Mäkitie O, Andersson S, Heinonen K. JAMA Netw Open. 2021 Sep 1;4(9):e2124493. doi: 10.1001/jamanetworkopen.2021.24493.