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 Vineta Fellman
Högberg U, Fellman V, Thiblin I, Karlsson R, Wester K. Difficult birth is the main contributor to birth related fracture, and accidents to other neonatal fractures. Acta Paediatr 109: 2040-2048, 2020 (doi: 10.1111/apa.15217)
Purhonen J, Banerjee R, Sipari N, Fellman V, Kallijärvi J. An ultrasensitive tissue dNTP assay based on high-fidelity DNA polymerase and EvaGreen dye. Nucleic Acids Res 48: e87, 2020 (doi: 10.1093/nar/gkaa516)
Purhonen J, GrigorjevV, Ekiert R, Aho N, Rajendran J, PietrasR, Truvé K, WikströmM, SharmaV, Osyczka A, Fellman V, Kallijärvi J. A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice. Nat Commun 11: 322, 2020 (doi: 10.1038/s41467-019-14201-2)
Tomašić, N, Kotarsky H, de Oliveira Figueiredo R, Hansson E, Mörgelin M, Tomašić I, Kallijärvi J, Elmér E, Jauhiainen M, Eklund EA, Fellman V. Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice. Biochim Biophys Acta Mol Basis Dis 1866: 165573, 2020 (doi: 10.1016/j.bbadis.2019.165573)
Original Articles Juha Kere
Bieder A, Einarsdottir E, Matsson H, Nilsson HE, Eisfeldt J, Dragomir A, Paucar M, Granberg T, Li TQ, Lindstrand A, Kere J, Tapia-Páez I, Bieder A. Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report. BMC Med Genet 21: 87, 2020 (doi: 10.1186/s12881-020-01020-2)
Bieder A, Yoshihara M, Katayama S, Krjutškov K, Falk A, Kere J, Tapia-Páez I, Bieder A. Dyslexia candidate gene and ciliary gene expression dynamics during human neuronal differentiation. Mol Neurobiol 57: 2944-2958, 2020 (doi: 10.1007/s12035-020-01905-6)
Bootpetch TC, Hafrén L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A; University of Washington Center for Mendelian Genomics (UW-CMG), Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, Santos-Cortez RLP, Bootpetch TC. Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10: 15035, 2020 (doi: 10.1038/s41598-020-70498-w)
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, Frank DN. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants. J Med Genet in press (doi: 10.1136/jmedgenet-2020-106844)
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, Gialluisi A. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia. Mol Psychiatry (in press) (doi: 10.1038/s41380-020-00898-x)
Hannula-Jouppi K, Harjama L, Einarsdottir E, Elomaa O, Kettunen K, Saarela J, Soronen M, Bouchard L, Lappalainen K, Heikkilä H, Kivirikko S, Seppänen MRJ, Kere J, Ranki A, Hannula-Jouppi K. Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation. J Am Acad Dermatol 83: 643-645, 2020 (doi: 10.1016/j.jaad.2019.11.004)
Harjama L, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Lappalainen K, Saarela J, Alby C, Ranki A, Kere J, Hadj-Rabia S, Hannula-Jouppi K, Harjama L. Phenotypic variability with SLURP1 mutations and diffuse palmoplantar keratoderma. Acta Derm Venereol 100: adv00060, 2020 (doi: 10.2340/00015555-3404)
Katayama S, Stenberg Hammar K, Krjutškov K, Einarsdottir E, Hedlin G, Kere J, Söderhäll C, Katayama S. Acute wheeze-specific gene module shows correlation with vitamin D and asthma medication. Eur Respir J 55: 1901330, 2020 (doi: 10.1183/13993003.01330-2019)
Kaukonen M, Quintero IB, Mukarram AK, Hytönen MK, Holopainen S, Wickström K, Kyöstilä K, Arumilli M, Jalomäki S, Daub CO, Kere J, Lohi H; DoGA Consortium, Kaukonen M. A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLoS Genet 16: e1008659 (doi: 10.1371/journal.pgen.1008659)
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, Kheirkhah Rahimabad P. Association of maternal DNA methylation and offspring birthweight. Reprod Sci 28: 218-227, 2020 (doi: 10.1007/s43032-020-00281-9)
Lauter G, Coschiera A, Yoshihara M, Sugiaman-Trapman D, Ezer S, Sethurathinam S, Katayama S, Kere J, Swoboda P, Lauter G. Differentiation of ciliated human midbrain-derived LUHMES neurons. J Cell Sci 133: jcs249789, 2020 (doi: 10.1242/jcs.249789)
Lindberg E, Moller C, Kere J, Wedenoja S, Anderzén-Carlsson A. Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes. BMC Med Genet 21: 79, 2020 (doi: 10.1186/s12881-020-01023-z. PMID: 32295532)
Merid SK, Novoloaca A, Sharp GC, Küpers LK, Kho AT, Roy R, Gao L, Annesi-Maesano I, Jain P, Plusquin M, Kogevinas M, Allard C, Vehmeijer FO, Kazmi N, Salas LA, Rezwan FI, Zhang H, Sebert S, Czamara D, Rifas-Shiman SL, Melton PE, Lawlor DA, Pershagen G, Breton CV, Huen K, Baiz N, Gagliardi L, Nawrot TS, Corpeleijn E, Perron P, Duijts L, Nohr EA, Bustamante M, Ewart SL, Karmaus W, Zhao S, Page CM, Herceg Z, Jarvelin MR, Lahti J, Baccarelli AA, Anderson D, Kachroo P, Relton CL, Bergström A, Eskenazi B, Soomro MH, Vineis P, Snieder H, Bouchard L, Jaddoe VW, Sørensen TIA, Vrijheid M, Arshad SH, Holloway JW, Håberg SE, Magnus P, Dwyer T, Binder EB, DeMeo DL, Vonk JM, Newnham J, Tantisira KG, Kull I, Wiemels JL, Heude B, Sunyer J, Nystad W, Munthe-Kaas MC, Räikkönen K, Oken E, Huang RC, Weiss ST, Antó JM, Bousquet J, Kumar A, Söderhäll C, Almqvist C, Cardenas A, Gruzieva O, Xu CJ, Reese SE, Kere J, Brodin P, Solomon O, Wielscher M, Holland N, Ghantous A, Hivert MF, Felix JF, Koppelman GH, London SJ, Melén E, Merid SK. Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age. Genome Med 12: 25, 2020 (doi: 10.1186/s13073-020-0716-9)
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, Plaza-Florido A. Distinct whole-blood transcriptome profile of children with metabolic healthy overweight/obesity compared to metabolic unhealthy overweight/obesity. Pediatr Res (in press) (doi: 10.1038/s41390-020-01276-7)
Ramilowski JA, Yip CW, Agrawal S, Chang JC, Ciani Y, Kulakovskiy IV, Mendez M, Ooi JLC, Ouyang JF, Parkinson N, Petri A, Roos L, Severin J, Yasuzawa K, Abugessaisa I, Akalin A, Antonov IV, Arner E, Bonetti A, Bono H, Borsari B, Brombacher F, Cameron CJ, Cannistraci CV, Cardenas R, Cardon M, Chang H, Dostie J, Ducoli L, Favorov A, Fort A, Garrido D, Gil N, Gimenez J, Guler R, Handoko L, Harshbarger J, Hasegawa A, Hasegawa Y, Hashimoto K, Hayatsu N, Heutink P, Hirose T, Imada EL, Itoh M, Kaczkowski B, Kanhere A, Kawabata E, Kawaji H, Kawashima T, Kelly ST, Kojima M, Kondo N, Koseki H, Kouno T, Kratz A, Kurowska-Stolarska M, Kwon ATJ, Leek J, Lennartsson A, Lizio M, López-Redondo F, Luginbühl J, Maeda S, Makeev VJ, Marchionni L, Medvedeva YA, Minoda A, Müller F, Muñoz-Aguirre M, Murata M, Nishiyori H, Nitta KR, Noguchi S, Noro Y, Nurtdinov R, Okazaki Y, Orlando V, Paquette D, Parr CJC, Rackham OJL, Rizzu P, Sánchez Martinez DF, Sandelin A, Sanjana P, Semple CAM, Shibayama Y, Sivaraman DM, Suzuki T, Szumowski SC, Tagami M, Taylor MS, Terao C, Thodberg M, Thongjuea S, Tripathi V, Ulitsky I, Verardo R, Vorontsov IE, Yamamoto C, Young RS, Baillie JK, Forrest ARR, Guigó R, Hoffman MM, Hon CC, Kasukawa T, Kauppinen S, Kere J, Lenhard B, Schneider C, Suzuki H, Yagi K, de Hoon MJL, Shin JW, Carninci P, Ramilowski JA. Functional annotation of human long noncoding RNAs via molecular phenotyping. Genome Res 30: 1060-1072, 2020 (doi: 10.1101/gr.254219.119)
Remes SM, Leijon H, Vesterinen T, Louhimo J, Pulkkinen V, Ezer S, Kere J, Haglund C, Arola J, Remes SM. PCSK2 expression in neuroendocrine tumors points to a midgut, pulmonary, or pheochromocytoma-paraganglioma origin. APMI 128: 563-572, 2020 (doi: 10.1111/apm.13071)
Tuovinen EA, Grönholm J, Öhman T, Pöysti S, Toivonen R, Kreutzman A, Heiskanen K, Trotta L, Toiviainen-Salo S, Routes JM, Verbsky J, Mustjoki S, Saarela J, Kere J, Varjosalo M, Hänninen A, Seppänen MRJ, Tuovinen EA. Novel hemizygous IL2RG p.(Pro58Ser) mutation impairs IL-2 receptor complex expression on lymphocytes causing x-linked combined immunodeficiency. J Clin Immunol 40: 503-514, 2020 (doi: 10.1007/s10875-020-00745-2)
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,Varshney MK. Motor function deficits in the estrogen receptor beta knockout mouse: role on excitatory neurotransmission and myelination in the motor cortex. Neuroendocrinology 111: 27-44, 2020 (doi: 10.1159/000506162)
Wagner M, Yoshihara M, Douagi I, Damdimopoulos A, Panula S, Petropoulos S, Lu H, Pettersson K, Palm K, Katayama S, Hovatta O, Kere J, Lanner F, Damdimopoulou P, Wagner M. Single-cell analysis of human ovarian cortex identifies distinct cell populations but no oogonial stem cells. Nat Commun 11: 1147 (doi: 10.1038/s41467-020-14936-3)
Wedenoja S, Yoshihara M, Teder H, Sariola H, Gissler M, Katayama S, Wedenoja J, Häkkinen IM, Ezer S, Linder N, Lundin J, Skoog T, Sahlin E, Iwarsson E, Pettersson K, Kajantie E, Mokkonen M, Heinonen S, Laivuori H, Krjutškov K, Kere J,Wedenoja S. Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia. EBioMedicine 59: 102872, 2020 (doi:10.1016/j.ebiom.2020.102872)
Original Articles Anna-Elina Lehesjoki
Gorski K, Spoljaric A, Nyman T, Kaila K, Battersby BJ, Lehesjoki A-E. Quantitative changes in the mitochondrial proteome of cerebellar synaptosomes from preclinical cystatin B-deficient mice. Front Mol Neurosci 13: 1-13, 2020 (doi: 10.3389/fnmol.2020.570640)
Knuutinen O, Pyle A, Froukh T, Suo-Palosaari M, Duff J, Froukh T, Lehesjoki A-E, Kangas SM, Cassidy J, Maraqa L, Keski-Filppula R, Kokkonen H, Uusimaa J, Horvath R, Vieira P. Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype Clin Genet (in press) (doi: 10.1111/cge.13827)
Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C; EuroEPINOMICS-RES Consortium, Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ. Gene family information facilitates variant interpretation and identification of disease associated genes in neurodevelopmental disorders. Genome Med 12:28, 2020 (doi: 10.1186/s13073020-00725-6)
Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Charton N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki A-E, Lesca G. Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS. Ann Neurol (in press) (doi: 10.1002/ana.25941)
Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D; Epi25 Collaborative. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain 143:2106-2118, 2020 (doi: 10.1093/brain/awaa171)
Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx JJ, Koeleman BPC, Veldink JH; Project MinE ALS GWAS Consortium; International League Against Epilepsy Consortium on Complex Epilepsies. Analysis of shared common genetic risk between amyotrophic lateralsclerosisand epilepsy. Neurobiol Aging 92:153. e1-153.e5. 2020 (doi: 10.1016/j.neurobiolaging.2020.04.011)
Sierra-Torre V, Plaza-Zabala A, Bonifazi P, Abiega O, Díaz-Aparicio I, Tegelberg S, Lehesjoki AE, Valero J, Sierra A. Microglial phagocytosis dysfunction is related to local neuronal activity in agenetic model of epilepsy. Epilepsia (in press) (doi: 10.1111/epi.16692)
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M;EuroEPINOMICS-RES Consortium, Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. Epilepsia 61: 995-1007, 2020 (doi: 10.1111/epi.16508)
Other Publications Anna-Elina Lehesjoki
Lehesjoki AE, Kälviäinen R. Progressive Myoclonic Epilepsy Type 1. 2004 Jun 24 [Updated 2020 Jul 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1142/
Original Articles Joni Turunen
Repo P, Järvinen RS, Sankila EM, Paavo M, Ellonen P, Kivelä TT, Turunen JA. Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing. Clin Genet 99: 193-198, 2020 (doi: 10.1111/cge.13847)
Repo P, Jäntti JE, Järvinen RS, Rantala ES, Täll M, Raivio V, Kivelä TT, Turunen JA. Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma. Pigment Cell Melanoma Res 33: 756-762, 2020 (doi: 10.1111/pcmr.12892)
Tanigawa Y, Wainberg M, Karjalainen J, Kiiskinen T, Lemmelä S, Turunen JA, Graham R, Havulinna AS, Perola M, Palotie A, FinnGen, Daly MJ, Rivas MA. Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLOS Genet 16: e1008682, 2020 (doi: 10.1371/journal.pgen.1008682)
Turunen JA, Immonen AT, Järvinen RS, Kawan S, Repo P, Korsbäck A, Ala-Fossi O, Jaakkola AM, Majander A, Vesaluoma M, Kivelä TT. In vivo corneal confocal microscopy and histopathology of keratitis fugax hereditaria from a pathogenic variant in NLRP3. Am J Ophthalmol 213: 217-225, 2020 (doi: 10.1016/j.ajo.2020.02.002)
Other Publications Joni Turunen
Tyynismaa H, Turunen JA. Metaboliset muutokset verkkokalvosairaudessa. Duodecim 136: 1629-1630, 2020
Original Articles Maija Wessman
Bryois J, Skene NG, Hansen TF, Kogelman LJA, Watson HJ, Liu Z; Eating Disorders Working Group of the Psychiatric Genomics Consortium; International Headache Genetics Consortium; 23andMe Research Team, Brueggeman L, Breen G, Bulik CM, Arenas E, Hjerling-Leffler J, Sullivan PF. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease. Nat Genet 52: 482-493, 2020 (doi: 10.1038/s41588-020-0610-9)
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. A structural variation reference for medical and population genetics. Nature 581: 444-451, 2020 (doi: 10.1038/s41586-020-2287-8)
Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, Daly MJ, MacArthur DG. Transcript expression-aware annotation improves rare variant interpretation. Nature 581: 452-458, 2020 (doi: 10.1038/s41586-020-2329-2)
Daghlas I, Vgontzas A, Guo Y, Chasman DI; International Headache Genetics Consortium, Saxena R. Habitual sleep disturbances and migraine: a Mendelian randomization study. Ann Clin Transl Neurol 7: 2370-80, 2020 (doi: 10.1002/acn3.51228)
Guo Y, Rist PM, Daghlas I, Giulianini F; International Headache Genetics Consortium; 23andMe Research Team, Kurth T, Chasman DI. A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine. Nat Commun 11: 3368, 2020 (doi: 10.1038/s41467-020-17002-0. PMID: 32632093)
Hassan S, Surakka I, Taskinen MR, Salomaa V, Palotie A, Wessman M, Tukiainen T, Pirinen M, Palta P, Ripatti S. High-resolution population-specific recombination rates and their effect on phasing and genotype imputation. Eur J Hum Genet (in press) (doi: 10.1038/s41431-020-00768-8)
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME; Genome Aggregation Database Consortium, Neale BM, Daly MJ, MacArthur DG. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581: 434-443, 2020 (doi: 10.1038/s41586-020-2308-7)
Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC, van Heel DA, Daly MJ; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, Schreiber SL, MacArthur DG. Evaluating drug targets through human loss-of-function genetic variation. Nature 581: 459-464, 2020 (doi: 10.1038/s41586-020-2267-z)
Sargurupremraj M, Suzuki H, Jian X, Sarnowski C, Evans TE, Bis JC, Eiriksdottir G, Sakaue S, Terzikhan N, Habes M, Zhao W, Armstrong NJ, Hofer E, Yanek LR, Hagenaars SP, Kumar RB, van den Akker EB, McWhirter RE, Trompet S, Mishra A, Saba Y, Satizabal CL, Beaudet G, Petit L, Tsuchida A, Zago L, Schilling S, Sigurdsson S, Gottesman RF, Lewis CE, Aggarwal NT, Lopez OL, Smith JA, Valdés Hernández MC, van der Grond J, Wright MJ, Knol MJ, Dörr M, Thomson RJ, Bordes C, Le Grand Q, Duperron MG, Smith AV, Knopman DS, Schreiner PJ, Evans DA, Rotter JI, Beiser AS, Maniega SM, Beekman M, Trollor J, Stott DJ, Vernooij MW, Wittfeld K, Niessen WJ, Soumaré A, Boerwinkle E, Sidney S, Turner ST, Davies G, Thalamuthu A, Völker U, van Buchem MA, Bryan RN, Dupuis J, Bastin ME, Ames D, Teumer A, Amouyel P, Kwok JB, Bülow R, Deary IJ, Schofield PR, Brodaty H, Jiang J, Tabara Y, Setoh K, Miyamoto S, Yoshida K, Nagata M, Kamatani Y, Matsuda F, Psaty BM, Bennett DA, De Jager PL, Mosley TH, Sachdev PS, Schmidt R, Warren HR, Evangelou E, Trégouët DA; International Network against Thrombosis (INVENT) Consortium; International Headache Genomics Consortium (IHGC), Ikram MA, Wen W, DeCarli C, Srikanth VK, Jukema JW, Slagboom EP, Kardia SLR, Okada Y, Mazoyer B, Wardlaw JM, Nyquist PA, Mather KA, Grabe HJ, Schmidt H, Van Duijn CM, Gudnason V, Longstreth WT Jr, Launer LJ, Lathrop M, Seshadri S, Tzourio C, Adams HH, Matthews PM, Fornage M, Debette S. Cerebral small vessel disease genomics and its implications across the lifespan. Nat Commun 11: 6285 (doi: 10.1038/s41467-020-19111-2. PMID: 33293549)
Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, Karczewski KJ, MacArthur DG. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun 11: 2539 (doi: 10.1038/s41467-019-12438-5)
Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team, Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. The effect of LRRK2 loss-of-function variants in humans. Nat Med 26: 869-877, 2020 (doi: 10.1038/s41591-020-0893-5)
Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, Cook SA, Barton PJR, MacArthur DG, Ware JS. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun 11: 2523 (doi: 10.1038/s41467-019-10717-9. PMID: 32461616)
Original Articles Hannes Lohi
Arumilli M, Layer R, Hytönen M, Lohi H. webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering. Front Genet 11: 152, 2020 (doi: 10.3389/fgene.2020.00152)
Buckley RM, Gandolfi B, Creighton EK, Pyne CA, Bouhan DM, LeRoy ML, Senter DA, Gobble JR, Abitbol M, Lyons LA; 99 Lives Consortium. Werewolf, there wolf: Variants in hairless associated with hypotrichia and roaning in the lykoi cat breed. Genes (Basel) 11: 682, 2020 (doi: 10.3390/genes11060682)
Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska K, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. Mutations in the Kinesin-2 motor KIF3B cause an autosomal dominant ciliopathy. Am J Hum Genet 106: 893-904, 2020 (doi: 10.1016/j.ajhg.2020.04.005)
Dillard KJ, Ochs M, Niskanen JE, Arumilli M, Hytönen MK, Anttila M, Lohi H. Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet 16: e1008651, 2020 (doi: 10.1371/journal.pgen.1008651)
Emameh RZ, Kuuslahti M, Taheri RA, Nosrati H, Lohi H, Parkkila S. Assessment of databases for validity of β- and γ-carbonic anhydrase sequences from vertebrates. BMC Genomics 21: 352, 2020 (doi: 10.1186/s12864-020-6762-2)
Gershony LC, Belanger JM, Hytönen MK, Lohi H, Famula TR, Oberbauer AM. Genetic characterization of Addison’s disease in Bearded Collies. BMC Genomics 21: 833, 2020 (doi: 10.1186/s12864-020-07243-0)
Graff EC, Cochran JN, Kaelin CB, Day K, Gray-Edwards HL, Watanabe R, Koehler JW, Falgoust RA, Proko JW, Myers RM, Cox NR, Barsh GS, Martin DR; 99 Lives Consortium. PEA15 loss of function and defective cerebral development 1 in the domestic cat. PloS Genet 16: e1008671, 2020 (doi: 10.1371/journal.pgen.1008671)
Hakanen E, Mikkola S, Salonen M, Puurunen J, Sulkama S, Araujo C, Lohi H. Active and social life is associated with lower non‑social fearfulness in pet dogs. Sci Rep 10: 13774, 2020 (doi: 10.1038/s41598-020-70722-7)
Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyöstilä K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL. Characterisation of canine KCNIP4: a novel gene for cerebellar ataxia identified by whole-genome sequencing of two affected Norwegian Buhund dogs. PLoS Genet 16: e1008527, 2020 (doi: 10.1371/journal.pgen.1008527)
Kaukonen M, Mukarram AK, Quintero IB, Wickström K, Kaisa Kyöstilä K, Arumilli M, Jalomäki S, Daub CO, Kere J, DoGA consortium, Lohi H. A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PloS Genet 16: e1008659, 2020 (doi: 10.1371/journal.pgen.1008659)
Leeb T, Leuthard F, Jagannathan V, Kiener S, Letko A, Roosje P, Welle MM, Gailbreath KL, Cannon A, Linek M, Banovic F, Olivry T, White SD, Batcher K, Bannasch D, Minor KM, Mickelson JR, Hytönen MK, Lohi H, Mauldin EA and Casal ML. A missense variant affecting the c-terminal tail of UNC93B1 in dogs with exfoliative cutaneous lupus erythematosus (ECLE). Genes (Basel) 11: 159, 2020 (doi: 10.3390/genes11020159)
Lehtimäki J, Sinkko H, Hielm-Björkman A, Laatikainen T, Ruokolainen L, Lohi H. Simultaneous allergic traits in dogs and their owners are associated with living environment, lifestyle and microbial exposures. Sci Rep 10: 21954, 2020 (doi: 10.1038/s41598-020-79055-x)
Letko A, Leuthard F, Jagannathan V, Corlazzoli V, Matiasek K, Schweizer D, Hytönen MK, Lohi H, Leeb T, Drögemüller C. Whole genome sequencing indicates heterogeneity of hyperostotic disorders in dogs. Genes (Basel) 11: 163, 2020 (doi: 10.3390/genes11020163)
Momozawa Y, Merveille A-C, Battaille G, Wiberg M, Koch J, Willesen J, Proschowsky H, Gouni V, Chetboul V, Tiret L, Fredholm M, Seppälä E, Lohi H, Georges M, Lequarré A-S. A trans-breed genome-wide association study of 40 clinical measurements in dogs. Sci Rep 10: 6520, 2020 (doi: 10.1038/s41598-020-63457-y)
Ottka C, Vapalahti K, Määttä A-M, Huuskonen N, Sarpanen S, Jalkanen L, Lohi H. High serum creatinine concentration is associated with metabolic perturbations in dogs. J Vet Intern Med (in press) (doi: 10.1111/jvim.16011)
Parmentier T, Monteith G, Cortez M, Wielaender F, Fischer A, Jokinen T, Lohi H, Sanders S, Sammut V, Tai T, James F. Effect of prior general anesthesia or sedation and anti-seizure drugs on the diagnostic utility of wireless video electroencephalography in dogs. J Vet Intern Med 34: 1967–1974, 2020 (doi: 10.1111/jvim.15856)
Puurunen J, Hakanen E, Salonen MK, Mikkola S, Sulkama S, Araujo S, Lohi H. Inadequate socialisation, inactivity, and urban living environment are associated with social fearfulness in pet dogs. Sci Rep 10: 3527, 2020 (doi: 10.1038/s41598-020-60546-w9)
Salonen M,Sulkama S, Mikkola S, Puurunen J, Hakanen E, Tiira K, Araujo C, Lohi H. Prevalence, comorbidity, and breed differences of canine anxiety in 13,700 Finnish pet dogs. Sci Rep 10: 2962, 2020 (doi: 10.1038/s41598-020-59837-z)
Sarviaho R, Hakosalo O, Tiira K, Sulkama S, Niskanen JE, Hytönen MK, Sillanpää MJ, Lohi H. A novel genomic region on chromosome 11 associated with fearfulness in dogs. Transl Psychiatry 10: 169, 2020 (doi: 10.1038/s41398-020-0849-z)
Syrjä P, Palviainen M, Jokinen T, Kyöstilä K, Lohi H, Roosje P, Anderegg L, Leeb T, Sukura A, Eskelinen E-L. Altered basal autophagy affects extracellular vesicle release in cells of Lagotto Romagnolo dogs with a homozygous ATG4D variant. Vet Pathol 57: 926-935, 2020 (doi: 10.1177/0300985820959243)
Turunen S, Puurunen J, Auriola S, Kullaa AM, Kärkkäinen O, Lohi H, Hanhineva K. Metabolome of canine and human saliva: a non-targeted metabolomics study. Metabolomics 16: 90, 2020 (doi: 10.1007/s11306-020-01711-0)
Yu Y, Creighton EK, Buckley RM, Lyons LA, 99 Lives Consortium. A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats. Genes (Basel) 11: 672, 2020 (doi: 10.3390/genes11060672)
Original Articles Outi Mäkitie
Ain NU, Baroncelli M, Costantini A, Ishaq T, Taylan F, Nilsson O, Mäkitie O, Naz S. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. J Med Genet (in press) (doi: 10.1136/jmedgenet-2020-106929)
Ain NU, Muhammad N, Dianatpour M, Baroncelli M, Iqbal M, Fard MAF, Bukhari I, Ahmed S, Hajipour M, Tabatabaie Z, Foroutan H, Nilsson O, Faghihi MA, Mäkitie O, Naz S. Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. Hum Mutat (in press) (doi: 10.1002/humu.24139)
Borchers J, Pukkala E, Mäkitie O, Laakso S. Patients with APECED have increased early mortality due to endocrine causes, malignancies and infections. J Clin Endocrinol Metab 105: e2207-e2213 (doi:10.1210/clinem/dgaa140)
Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O. Novel RPL13 variants and variable clinical expressivity in a human ribosomopathy with spondyloepimetaphyseal dysplasia. J Bone Miner Res (in press) (doi: 10.1002/jbmr.4177)
Enlund-Cerullo M, Hauta-Alus H, Valkama S, Rosendahl J, Andersson S, Mäkitie O, Holmlund-Suila E. Fibroblast growth factor 23 concentrations and modifying factors in children from age 12 to 24 months. Bone 141: 115629, 2020 (doi: 10.1016/j.bone.2020.115629)
Hauta-Alus HH, Holmlund-Suila EM, Kajantie E, Rosendahl J, Valkama SM, Enlund-Cerullo M, Andersson S, Mäkitie O. The effects of vitamin D supplementation during infancy on growth during the first two years of life. J Clin Endocrinol Metab (in press) (doi: 10.1210/clinem/dgaa943)
Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Biallelic variants in four genes underlying recessive osteogenesis imperfecta. Eur J Med Genet 63: 103954, 2020 (doi: 10.1016/j.ejmg.2020.103954)
Holopainen E, Vakkilainen S, Mäkitie O.Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study. Orphanet J Rare Dis 15: 326 (doi: 10.1186/s13023-020-01614-2)
Hyvönen H, Anttila H, Tallqvist S, Muñoz M, Leppäjoki-Tiistola S, Teittinen A, Mäkitie O, Hiekkala S. Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects - a cross-sectional survey study. BMC Musculoskelet Disord 21: 808, 2020 (doi: 10.1186/s12891-020-03835-9)
Kenis V, Melchenko E, Mazunin I, Pekkinen M, Mäkitie O.A new family with epiphyseal chondrodysplasia type Miura. Am J Med Genet A 185: 112-118, 2020 (doi: 10.1002/ajmg.a.61923)
Laakso S, Borchers J, Toiviainen-Salo S, Pekkinen M, Mäkitie O. Severe phenotype of APECED (APS1) increases risk for structural bone alterations. Front Endocrinol (Lausanne) 11: 109, 2020 (doi: 10.3389/fendo.2020.00109)
Loid P, Mustila T, Mäkitie RE, Viljakainen H, Kämpe A, Tossavainen P, Lipsanen-Nyman M, Pekkinen M, Mäkitie O. Rare variants in genes linked to appetite control and hypothalamic development in early-onset severe obesity.Front Endocrinol (Lausanne) 11: 81, 2020 (doi: 10.3389/fendo.2020.00081)
Loid P, Pekkinen M, Reyes M, Mustila T, Viljakainen H, Jüppner H, Mäkitie O. GNAS, PDE4D, and PRKAR1A mutations and GNAS methylation changes are not a common cause of isolated early-onset severe obesity among Finnish children. Front Pediatr 8: 145, 2020 (doi: 10.3389/fped.2020.00145)
Mäkitie O, Vakkilainen S, Adam M, Ardinger H, Pagon R, Wallace S, Bean L, Stephens K, Amemya A. Cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders. GeneReviews® [Internet]. PMID: 22420014 Bookshelf ID: NBK84550
Mäkitie RE, Hackl M, Weigl M, Frischer A, Kämpe A, Costantini A, Grillari J, Mäkitie O. Unique, gender-dependent serum microRNA profile in PLS3 gene-related osteoporosis. J Bone Miner Res 35: 1962-1973 (doi: 10.1002/jbmr.4097)
Mäkitie RE, Kämpe A, Costantini A, Alm JJ, Magnusson P, Mäkitie O. Biomarkers in WNT1 and PLS3 osteoporosis: altered concentrations of DKK1 and FGF23. J Bone Miner Res 35: 901-912, 2020 (doi: 10.1002/jbmr.3959)
Mäkitie RE, Niinimäki T, Suo-Palosaari M, Kämpe A, Costantini A, Toiviainen-Salo S, Niinimäki J, Mäkitie O. PLS3 mutations cause severe age and sex-related spinal pathology. Front Endocrinol (Lausanne) 11: 393, 2020 (doi: 10.3389/fendo.2020.00393)
Manousaki D, Kämpe A, Forgetta V, Makitie RE, Bardai G, Belisle A, Li R, Andersson S, Makitie O, Rauch F, Richards JB. Increased burden of common risk alleles in children with a significant fracture history. J Bone Miner Res 35: 875-882, 2020 (doi: 10.1002/jbmr.3956)
Padidela R, Nilsson O, Mäkitie O, Beck-Nielsen S, Ariceta G, Schnabel D, Brandi ML, Boot A, Levtchenko E, Smyth M, Jandhyala R, Mughal Z. The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study. Orphanet J Rare Dis 15: 172, 2020 (doi: 10.1186/s13023-020-01434-4)
Saari A, Pokka J, Mäkitie O, Saha MT, Dunkel L, Sankilampi U. Early detection of abnormal growth associated with juvenile acquired hypothyroidism. J Clin Endocrinol Metab (in press) (doi: 10.1210/clinem/dgaa869)
Saari V, Holopainen E, Mäkitie O, Laakso S. Pubertal development and premature ovarian insufficiency in patients with APECED. Eur J Endocrinol 183: 513-520, 2020 (doi: 10.1530/EJE-20-0516)
Skarp S, Xia JH, Zhang Q, Löija M, Costantini A, Ruddock LW, Mäkitie O, Wei GH, Männikkö M. Exome sequencing reveals a phenotype modifying variant in ZNF528 in Ppimary osteoporosis with a COL1A2 deletion. J Bone Miner Res 35: 2381-2392, 2020 (doi: 10.1002/jbmr.4145)
Vakkilainen S, Kleino I, Honkanen J, Salo H, Kainulainen L, Gräsbeck M, Kekäläinen E, Mäkitie O, Klemetti P. The safety and efficacy of live viral vaccines in patients with cartilage-hair hypoplasia. Front Immunol 11: 11, 2020 (doi: 10.3389/fimmu.2020.02020)
Vakkilainen S, Taskinen M, Mäkitie O. Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management. Scand J Immunol 92: e12913, 2020 (doi: 10.1111/sji.12913)
Valkama S, Holmlund-Suila E, Ireland A, Hauta-Alus H, Enlund-Cerullo M, Rosendahl J, Andersson S, Mäkitie O.Peripheral quantitative computed tomography (pQCT) in 12- and 24-month-old children - Practical aspects and descriptive data. Bone 141: 115670, 2020 (doi: 10.1016/j.bone.2020)
Yasin S, Mustafa S, Ayesha A, Latif M, Hassan M, Faisal M, Mäkitie O, Iqbal F, Naz S. A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family. Eur J Med Genet 63: 103958, 2020 (doi: 10.1016/j.ejmg.2020.103958)
Original Articles Bjarne Udd
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat 41: 403-411, 2020 (doi: 10.1002/humu.23938)
Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl C, Nishino I, Udd B. Mutations in the J domain of DNAJB6 cause dominant distal myopathy. Neuromuscul Disord 30: 38-46, 2020 (doi: 10.1016/j.nmd.2019.11.005)
Sarparanta J, Jonson PH, Kawan S, Udd B. Neuromuscular Diseases due to chaperone mutations – a review and some new results. Int J Mol Sci 21:1409, 2020 (doi: 10.3390/ijms21041409)
Savarese M, Johari M, Johnson K, Arumilli A, Torella A, Töpf A, Rubegni A, Kuhn M, Giugliano T, Gläser D, Fattori F, Thompson R, Penttilä S, Lehtinen S, Gibertini S, Ruggieri A, Mora M, Maver A, Peterlin B, Mankodi A, Lochmüller H, Santorelli F, Schoser B, Fajkusová L, Straub V, Nigro V, Hackman P, Udd B. Improved criteria for the classification of titin variants in inherited skeletal myopathies. J Neuromuscul Dis 7: 153-166, 2020 (doi: 10.3233/JND-190423)
Savarese M, Quresha T, Torella A, Laine P, Giuglianoc T, Jonson PH, Johari M, Paulin L, Piluso G, Auvinen P, Nigro V, Udd B, Hackman P. Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio). J Neuromuscul Dis 7: 477-481, 2020 (doi: 10.3233/JND-200523)
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Panorama of the distal Myopathies. Acta Myol 39: p.245-p.265, 2020 (doi: 10.36185/2532-1900-028)
Savarese M, Vihola A, Oates E, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, López de Munain A, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli F, Bruno C, Kuntzer T, Illa I, Vílchez J, Julien C, Ferreiro A, Zhao C, Casar-Borota O, PhD, Davis M, Muntoni F, Hackman P, Udd B. Genotype-phenotype correlations in recessive titinopathies. Genet Med 22: 2029-2040, 2020 (doi: 10.1038/s41436-020-0914-2)
Savarese M, Välipakka S, Johari M, Hackman P, Udd B. Is gene-size an issue for the diagnosis of skeletal muscle disorders? J Neuromuscul Dis 7: 203-216, 2020 (doi: 10.3233/JND-190459)
Tasca G, Lattante S, Marangi G, Conte A, Bernardo D, Bisogni G, Patanella A, Meleo E, Mandich P, Zollino M, Ragozzino E, Udd B, Sabatelli M. SOD1 D12Y variant is associated with ALS/distal myopathy spectrum. Eur J Neurol 27: 1304-1309, 2020 (doi: 10.1111/ene.14246)
Udd B. The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop? Curr Opin Neurol 33: 604-610, 2020 (doi: 10.1097/WCO.0000000000000850)
Välipakka S, Savarese M, Sagath L, Arumilli M, Giugliano T, Udd B, Hackman P. Improving copy number variant detection from sequencing data with a combination of programs and a predictive model. J Mol Diagn 22: 40-49, 2020 (doi: 10.1016/j.jmoldx.2019.08.009)
Original Articles Carina Wallgren-Pettersson
Laitila J, McNamara E, Wingate C, Goullee H, Ross J, Taylor R, Griffiths L, Ravenscroft G, Sewry C, Lawlor M, Bakker A, Ochala J, Laing N, Wallgren-Pettersson C, Pelin K, Nowak K. Combination of a missense and a nonsense mutation faithfully recapitulates nebulin nemaline myopathy in a mouse model. Neb. acta neuropathol commun 8:18, 2020 (doi: 10.1186/s40478-020-0893-1)
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B. A clinical scoring system for congenital contractural arachnodactyly. Genet Med 2: 124-131, 2020 (doi: 10.1038/s41436-019-0609-8
Neuhaus SB, Wallgren-Pettersson C, Bönnemann CG, Schara U, Servais L, The nemaline working group: 250th ENMC international workshop. Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands. Neuromuscul. Disord 30: 866–875, 2020 (doi: 10.1016/j.nmd.2020.08.356)
Töpf A, Wallgren-Pettersson C. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22: 1478–1488, 2020 (doi: 10.1038/s41436-020-0840-3
Original Articles Katarina Pelin
Rocha ML, Dittmayer C, Uruha A, Korinth D, Chaoui R, Schlembach D, Rossi R, Pelin K, Suk EK, Schmid S, Goebel HH, Schuelke M, Stenzel W, Englert B. A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation. Neuromuscul Disord. 5.12.2020 (in press) doi: 10.1016/j.nmd.2020.11.014)
Diabetes Genetics
Original Articles Per-Henrik Groop
Ahola AJ, Forsblom C, Harjutsalo V, Groop P-H, FinnDiane study Group. Perceived stress and adherence to the dietary recommendations and blood glucose levels in type 1 diabetes. J Diabetes Res 18: 3548520, 2020 (doi: 10.1155/2020/3548520)
Ahola AJ, Harjutsalo V, Forsblom C, Pouwer F, Groop P-H, on behalf of the FinnDiane Study Group. Depression is associated with progression of diabetic nephropathy in type 1 diabetes. Diabetes Care (in press) (doi: 10.2337/dc20-0493)
Barreiro K, Dwiwedi OP, Leparc G, Rolser M, Delic D, Forsblom C, Groop P-H, Groop L, Huber TB, Puhka M, Holthöfer H. Comparison of urinary extracellular vesicle isolation methods for transcriptomic biomarker research in diabetic kidney disease. J Extracell Vesicles 10: e12038, 2020 (doi: org/10.1002/jew2.12038)
Claesson T-B, Putaala J, Shams S, Salli E, Gordin D, Liebkind R, Forsblom C, Summanen PA, Tatlisumak T, Groop P-H, Martola J, Thorn LM, FinnDiane Study Group. Comparison of manual cross-sectional measurements and automatic volumetry of the corpus callosum and their clinical impact: A study on type 1 diabetes and healthy controls. Front Neurol 11: 27, 2020 (doi: 10.3389/fneur.2020.00027)
Eriksson M, Gordin D, Shams S, Forsblom C, Summanen P, Liebkind R, Tatlisumak T, Putaala J, Groop P-H, Martola J, Thorn LM, FinnDiane Study Group. Increased nocturnal blood pressure is associated with cerebral small-vessel disease in type 1 diabetes. Diabetes Care 43: e96-e98, 2020 (doi: 10.2337/dc20-0473)
Groop P-H, Dandona P, Phillip M, Gillard P, Edelman S, Jendle J, Xu J, Scheerer MF, Thoren F, Iqbal N, Repetto E, Mathieu C. Effect of dapagliflozin as an adjunct to insulin over 52 weeks in individuals with type 1 diabetes: post-hoc analysis of the DEPICT randomized controlled trials. Lancet Diabetes Endocrinol 8: 845-854, 2020 (doi: 10.1016/S2213-8587(20)30280-1)
Guo J, Rackham OJL, He B, Österholm A-M, Sandholm N, Valo E, Harjutsalo V, Forsblom C, Toppila I, Parkkonen M, Li Q, Zhu W, Harmston N, Chothani S, Öhman MK, Eng E, Sun Y, Petretto E, Groop P-H, Tryggvason K. Whole genome sequencing in Finnish type 1 diabetic siblings discordant for kidney disease reveals DNA variants associated with diabetic nephropathy. J Am Soc Nephrol 31: 309-323, 2020 (doi: 10.1681/ASN.2019030289)
Härma MA, Dahlström E, Sandholm N, Forsblom C, Groop P-H, Lehto M, FinnDiane Study Group. Decreased plasma kallikrein activity is associated with reduced kidney function in individuals with type 1 diabetes. Diabetologia 63: 1349-1354, 2020 (doi: 10.1007/s00125-020-05144-1)
Härma M-A, Adeshara K, Istomin N, Ruuth M, Öörni K, Lehto M, Blaut M, Savolainen MJ, Hörkkö S, Groop P-H, Koiuvukangas, Hukkanen J. Gastrointestinal manifestations after Roux-En-Y gastric bypass surgery in individuals with and without type 2 diabetes. Surg Obes Relat Dis (in press) (doi: 10.1016/j.soard.2020.10.02)
Jain R, Özgümüs T, Jensen TM, duPlessis E, Keindle M, Laustrup Møller C,Falhammar H, Nyström T, Sergiu-Bogdan C, Jörneskog G, Eyrich Jessen L, Forsblom C, Haukka JK, Groop P-H, Groop L, Eliasson M, Eliasson B, Brismar K, Al-Majdoub M, Nilsson PM, Taskinen MR,Ferrannini E, Spegel P, Berg T, Lyssenko V. Liver nucleotide biosynthesis is linked to protection from developing vascular complications in patients with long-term type 1 diabetes. Sci Rep 10: 11561, 2020 (doi: 10.1038/s41598-020-68130-y)
Laursen JC, Hansen CS, Bordino M, Zobel EH, Winther SA, Groop P-H, Frimodt-Möller M, Bernardi L, Rossing P. Autonomic function is impaired in individuals with long-duration type 1 diabetes and macroalbuminuria but can be improved by hyperoxia. Diabet Med 37: 1561-1568, 2020 (doi: 10.1111/dme.14315)
Limonte CP, Valo E, Montemayor D, Afshinnia F, Ahluwalia TS, Costacou T, Darshi M, Forsblom C, Hofnagle AN, Groop P-H, Miller RG, Orchard TJ, Pennathhur S, Rossing P, Sandholm N, Snell-Bergeon JK, Ye H, Zhang J, Makarajan L, DeBoer I, Sharma K. A targeted multi-omics approach to identify biomarkers associated with rapid eGFR decline in type 1 diabetes. Am J Nephrol 51: 839-848, 2020 (doi: 10.1159/000510830)
Lithovius R, Harjutsalo V, Mutter S, Forsblom C, Gordin D, Groop P-H, FinnDiane Study Group. Resistant hypertension and risk of adverse events in individuals with type 1 diabetes: a nationwide prospective study. Diabetes Care 43: 1885-1892, 2020 (doi: 10.2337/dc20-0170)
Mäkimattila S, Harjutsalo V, Forsblom C, Groop P-H, FinnDiane Study Group. Every fifth individual with type 1 diabetes suffers from an additional autoimmune disease – a Finnish nationwide study. Diabetes Care 43: 1041-1047, 2020 (doi: 10.2337/dc19-2429)
Mäkimattila S, Harjutsalo V, Forsblom C, Groop P-H, FinnDiane Study Group. Response to Comment on: Every fifth individual with type 1 diabetes suffers from an additional autoimmune disease – a Finnish nationwide study. Diabetes Care 43: e106-e107, 2020 (doi: 10.2337/dci20-0020)
Manca ML, Solini A, Haukka JK, Sandholm N, Forsblom C, Groop PH, Ferrannini E. Differential metabolomic signatures of declining renal function in Types 1 and 2 diabetes. Nephrol Dial Transplant (in press) doi: 10.1093/ndt/gfaa175)
Parente EB, Harjutsalo V, Lehto M, Forsblom C, Sadholm N, Groop P-H, FinnDiane Study Group. Relationship between ABO blood groups and cardiovascular disease in type 1 diabetes according to nephropathy status. Cardiovasc Diabetol 19:68:1-9, 2020 (doi: 10.1186/s12933-020-01038-z)
Parente E, Mutter S, Harjutsalo V, Ahola AJ, Forsblom C, Groop P-H. Waist-height ratio and waist are the best estimators of visceral fat in type 1 diabetes. Sci Rep 10: 18575, 2020 (doi: 10.1038/s41598-020-75667-5)
Pongrac Barlovic D, Harjutsalo V, Sandholm N, Forsblom C, Groop P-H, FinnDiane Study Group. Sphingomyelin and progression of renal and cardiovascular disease in individuals with type 1 diabetes. Diabetologia 63: 1847-1856, 2020 (doi: 10.1007/s00125-020-05201-9)
Roslund K, Lehto M, Pussinen P, Groop P-H, Halonen L, Metsälä M. On-line profiling of volatile compounds produced in vitro by pathogenic oral bacteria. J Breath Res 14: 016010, 2020 (doi: 10.1088/1752-7163/ab5559)
Simonsen R, Järvinen A, Harjiutsalo V, Forsblom C, Lehto M, Groop P-H, FinnDiane Study Group. The association between bacterial infections and the risk of coronary heart disease in type 1 diabetes. J Intern Med 288: 711-724, 2020 (doi: 10.1111/joim.13138)
Simonsen J, Järvinen A, Hietala K, Harjutsalo V, Forsblom C, Groop P-H, Lehto M. Bacterial infections as novel risk factors of severe diabetic retinopathy in individuals with type 1 diabetes. Br J Ophthalmol (in press) (doi: 10.1136/bjophthalmol-2020-316202)
Syreeni A, Sandholm N, Sidore C, Cucca F, Haukka J, Harjutsalo V, Groop P-H, on behalf of the FinnDiane Study Group. Genome-wide search for genes affecting the age at diagnosis of type 1 diabetes. J Intern Med (in press) (doi: 10.1111/joim.13187)
Thomas M, Harjutsalo V, Feodoroff M, Gordin D, Forsblom C, Groop P-H, FinnDiane Study Group. The long-term incidence of hospitalization for ketoacidosis in adults with established T1D – a prospective cohort study. J Clin Endocrinol Metab 105: 231-241, 2020 (doi: 10.1210/clinem/dgz003)
Tikkanen-Dolenc H, Wadén J, Forsblom C, Harjutsalo V, Thorn LM, Saraheimo M, Elonen N, Hietala K, Summanen P, Tikkanen HO, Groop P-H, FinnDiane Study Group. Frequent physical activity is associated with reduced risk of severe diabetic retinopathy in type 1 diabetes. Acta Diabetol 57: 527-534, 2020 (doi: 10.1007/s00592-019-01454-y)
Tynjälä A, Forsblom C, Harjutsalo V, Groop P-H, Gordin D, FinnDiane Study Group. Arterial stiffness predicts mortality in individuals with type 1 diabetes. Diabetes Care 43: 2266-2271, 2020 (doi: 10.2337/dc20-0078)
Other Publications Per-Henrik Groop
van Assendelft A, Rosendahl H, Groop P-H, Kovanen P. Aerosolivälitteinen SARS CoV-2 tartunta – aliarvioitu vaara. Suomen Lääkärilehti 75: 1202-1203, 2020
Lehtonen S, Groop P-H. Miten diabeettinen munuaistauti syntyy? Duodecim 136: 2003-2009, 2020
Original Articles Aila Ahola
Ahola AJ, Radzeviciene L, Zaharenko L, Bulum T, Skrebinska S, Prakapiene E, Blaslov K, Roso V, Rovīte V, Pīrāgs V, Duvnjak L, Sokolovska J, Verkauskiene R, Forsblom C. The association between symptoms of depression and diabetes complications and selected vascular risk factors in four European cohorts of individuals with type 1 diabetes – InterDiane Consortium. Diabetes Res Clin Pract 170: 108495, 2020 (doi: 10.1016/j.diabres.2020.108495)
Suojanen LU, Ahola AJ, Kupila S, Korpela R, Pietiläinen KH. Effectiveness of a web-based real-life weight management program: Study design, methods, and participants' baseline characteristics. Contemp Clin Trials Commun 19: 100638, 2020 (doi: 10.1016/j.conctc.2020.100638)
Original Articles Anni Antikainen
Antikainen AV, Sandholm N, Tregouet D-A, Charmet R, McKnight AJ, Ahluwalia TS, Syreeni A, Valo E, Forsblom C, Gordin D, Harjutsalo V, Hadjadj S, Maxwell AP, Rossing P. Genome-wide association analysis on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a novel risk locus. Cardiovasc Res (in press) (doi: 10.1093/cvr/cvaa045)
Other Publications Carol Forsblom
Forsblom C. Uusi normaali. Diabetes ja Lääkäri 49: 5, 2020
Original Articles Daniel Gordin
Pulkkinen MA, Tuomaala AK, Hero M, Gordin D, Sarkola T: Motivational Interview to improve vascular health in Adolescents with poorly controlled type 1 Diabetes (MIAD): a randomized controlled trial. BMJ Open Diabetes Res Care 8: e001216, 2020 (doi: 10.1136/bmjdrc-2020-001216)
Other Publications Daniel Gordin
Gordin D, Hägg-Holmberg S, Martola J, Liebkind R, Thorn L, Jokinen H, Putaala J. Tyypin 1 diabetespotilaan aivoverenkiertosairaus. Duodecim 136: 2135-2142, 2020
Other Publications Stefanie Hägg-Holmberg
Hägg-Holmberg S ja Thorn L. Diabetes ja aivohalvaus. Yleislääkäri 35: 14-17, 2020
Original Articles Tiinamaija Tuomi
Buzzetti R, Tuomi T, Mauricio D, Pietropaolo M, Zhou Z, Pozzilli P, Leslie RD. Management of Latent Autoimmune Diabetes in Adults: A Consensus Statement from an International Expert Panel. Diabetes 69: 2037-2047, 2020 (doi: 10.2337/dbi20-0017)
Hjort R, Ahlqvist E, Andersson T, Alfredsson L, Carlsson P-O, Grill V, Groop L, Martinell M, Sørgjerd EP, Tuomi T, Åsvold BO, Carlsson S. Physical activity, genetic susceptibility and the risk of latent autoimmune diabetes in adults and type 2 diabetes. J Clin Endocrinol Metab, 105: dgaa549, 2020 (doi: 10.1210/clinem/dgaa549)
Jujić A, Atabaki-Pasdar N, Nilsson PM, Almgren P, Hakaste L, Tuomi T, Berglund LM, Franks PW, Holst JJ, Prasad RB, Sørensen Torekov S, Ravassa S, Díez J, Persson M, Melander O, Gomez MF, Groop L, Ahlqvist E, Magnusson M. Glucose-dependent insulinotropic peptide and risk of cardiovascular events and mortality – a prospective study. Diabetologia 63: 1043-1054, 2020 (doi: 10.1007/s00125-020-05093-9)
Jujić A, Nilsson PM, Atabaki-Pasdar N, Dieden A, Tuomi T, Franks PW, PhD1,8, Holst JJ, Sørensen Torekov S, Ravassa S, Díez J, Persson M, Ahlqvist E, Melander O, Gomez MF, Groop L, Magnusson M. Glucose-dependent insulinotropic peptide in the high normal range is associated with increased carotid intima-media thickness. Diabetes care 18: dc201318, 2020 (doi: 10.2337/dc20-1318)
Kettunen J, Tuomi T. Human physiology of genetic defects causing beta-cell dysfunction. J Mol Biol 432: 1579-1598, 2020 (doi: 10.1016/j.jmb.2019.12.038)
Löfvenborg JE, Ahlqvist E, Alfredsson L, Andersson T, Dorkhan M, Groop L, Tuomi T, Wolk A, Carlsson S. Genotypes of HLA, TCF7L2, and FTO as potential modifiers of the association between sweetened beverage consumption and risk of LADA and type 2 diabetes. Eur J Nutr 59: 127-135, 2020 (doi: 10.1007/s00394-019-01893-x)
Löfvenborg JE, Ahlqvist E, Alfredsson L, Andersson T, Groop L, Tuomi T, Wolk A, Carlsson S. Consumption of red meat, genetic susceptibility, and risk of LADA and type 2 diabetes. Eur J Nutr (in press) (doi: 10.1007/s00394-020-02285-2)
Mars N, Widén E, Kerminen S, Meretoja T, Pirinen M, Della Briotta Parolo P, Palta P; FinnGen Project, Palotie A, Kaprio J, Joensuu H, Daly M, Ripatti S. The role of polygenic risk and susceptibility genes in breast cancer over the course of life. Nat Commun 11: 6383, 2020 (doi: 10.1038/s41467-020-19966-5)
Mishra R, Åkerlund M, Cousminer DL, Ahlqvist E, Bradfield JP, Chesi A, Hodge KM, Guy VC, Brillon DJ, Pratley RE, Rickels MR, Vella A, Ovalle F, Harris RI, Melander O, Varvel S, Hakonarson H, Froguel P, Lonsdale JT, Mauricio D, Schloot NC, Khunti K, Greenbaum CJ, Yderstræde KB, Tuomi T, Voight BF, Schwartz S, Boehm BO, Groop L, Leslie RD, Grant SFA. Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC. Diabetes Care 43: 418-425, 2020 (doi: 10.2337/dc19-0986)
Strausz S, Ruotsalainen S, Ollila H, Karjalainen J, Kiiskinen T, Reeve M, Kurki M, Mars N, Havulinna A, Luonsi E, Mansour AD, Ahlqvist E, Teder-Laving M, Palta P, Groop L, Mägi R, Mäkitie A, Salomaa V, Bachour A, Tuomi T, Palotie A, Palotie T, Ripatti S. Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health. Eur Respir J 10: 2003091, 2020 (doi: 10.1183/13993003.03091-2020)
Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B, Yao C, Kraja AT, Cartwright JH, Hellwege JN, Giri A, Tragante V, Thorleifsson G, Liu DJ, Prins PB, Stewart ID, Cabrera CP, Eales JM, Akbarov A, Auer PL, Bielak LF, Bis JC, Braithwaite VS, Brody JA, Daw W, Warren HR, Drenos F, Fallgaard Nielsen S, Faul JD, Fauman EB, Fava C, Ferreira T, Foley1 CN, Franceschini N, Gao H, Giannakopoulou O, Giulianini F, Gudbjartsson DF, Guo X, Harris SE, Havulinna AS, Helgadottir A, Huffman JE, Hwang S-J, Kanoni S, Kontto J, Larson MG, Li-Gao R, Lindström J, Lotta LA, Lu Y, Luan J, Mahajan A, Masca NGD, Mei H, Menni C, Mook-Kanamori DO, Mosen-Ansorena D, Müller-Nurasyid M, Paré G, Paul DS, Perola M, Poveda A, Rauramaa R, Richard M, Richardson TG, Sepúlveda N, Sim X, Smith AV, Smith JA, Staley JR, Stanáková A, Sulem P, Thériault S, Thorsteinsdottir U, Trompet S, Varga TV, Velez Edwards DR, Veronesi G, Weiss S, Willems SM, Yao J, Young R, Yu B, Zhang W, Zhao J-H, Zhao W, Zhao W, Εvangelou E, Aeschbacher S, Asllanaj E, Blankenberg S, Bonnycastle LL, Bork-Jensen J, Brandslund I, Braund PS, Burgess S, Cho K, Christensen C, Connell J, de Mutsert R, Dominiczak AF, Dörr M, Eiriksdottir G, Farmaki A-E, Gaziano JM, Grarup N, Grove-Gaona ML, Hallmans G, Hansen T, Have CT, Heiss G, Jørgensen ME, Jousilahti P, Kajantie E, Kamat M, Käräjämäki A-M, Karpe F, Koistinen HA, Kovesdy CP, Kuulasmaa K, Laatikainen T, Lannfelt L, Lee I-T, Lee W-J, LifeLines Cohort Study, Linneberg A, Martin LW, Moitry M, Nadkarni G, Neville M, Palmer CNA, Papanicolaou GJ, Pedersen O, Peters J, Poulter N, Rasheed A, Rasmussen KL, Rayner NW, Mägi R, Renström F, Rettig R, Rossouw J, Schreiner PJ, Sever PJ, Sigurdsson EL, Skaaby T, Sun YV, Sundstrom J, Thorgeirsson G, Tõnu E, Trabetti E, Tsao PS, Tuomi T, Turner ST, Tzoulaki I, Vaartjes I, Vergnaud A-C, Willer C-J, Wilson PWF, Witte DR, Yonova-Doing E, Zhang H, Aliya N, Almgren P, Amouyel P, Asselbergs FW, Barnes MR, Blakemore AI, Boehnke M, Bots ML, Bottinger EP, Buring JE, Chambers JC, Chen Y-D I, Chowdhury R, Conen D, Correa A, Smith GD, de Boer RA, Deary IJ, Dedoussis G, Deloukas P, Angelantonio ED, Elliott P, EPIC-CVD, EPIC-InterAct, Felix SB, Ferrières J, Ford I, Fornage M, Franks PW, Franks S, Frossard P, Gambaro G, Gaunt TR, Groop L, Gudnason V, Harris TB, Hayward C, Hennig BJ, Herzig K-H, Ingelsson E, Tuomilehto J, Jarvelin M-R, Jukema JW, Kardia SLR, Kee F, Kooner JS, Kooperberg C, Launer LJ, Lind L, Loos RJF, Majumder A, Laakso M, McCarthy MI, Melander O, Mohlke KL, Murray AD, Nordestgaard BG, Orho-Melander M, Packard CJ, Padmanabhan S, Palmas W, Polasek O, Porteous DJ, Prentice AM, Province MA, Relton CL, Rice K, Ridker PM, Rolandsson O, Rosendaal FR, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sattar N, Sheu W H-H, Smith BH, Soranzo N, Spector TD, Starr JM, Sylvain S, Taylor KD, Lakka TA, Timpson NJ, Tobin MD, Understanding Society Scientific Group, van der Harst P, van der Meer P, Ramachandran VS, Verweij N, Virtamo J, Völker U, Weir DR, Zeggini E, Charchar FJ, Million Veteran Program, Wareham NJ, Langenberg C, Tomaszewski M, Butterworth AS, Caulfield MJ, Danesh J, Edwards TL, Holm H, Hung AM, Lindgren CM, Liu C, Manning AK, Morris AP, Morrison AC, O’Donnell C, Psaty PM, Saleheen D, Stefansson K, Boerwinkle E, Chasman DI, Levy D, Newton-Cheh C, Munroe PM, Howson JMM. 87 rare variants associated with blood pressure regulation in meta-analysis of ~1.3 million individuals. Nat Genet 52: 1314-1332, 2020 (doi: 10.1038/s41588-020-00713-x)
Wasenius NS, Isomaa BA, Östman B, Söderstöm J, Forsén B, Lahti K, Hakaste L, Eriksson JG, Groop L, Hansson O, Tuomi T. Low-cost exercise interventions improve long-term cardiometabolic health independently of a family history of type 2 diabetes: a randomized parallel group trial. BMJ Open Diabetes Res Care 8: e001377, 2020 (doi: 10.1136/bmjdrc-2020-001377)
Other Publications Jouni Kettunen
Kettunen J. Kun MODY-potilas saapuu vastaanotolle. Diabetes ja lääkäri 4: 19-24, 2020
Original Articles Mikael Knip
Gazali AM, Schroderus AM, Näntö-Salonen K, Rintamäki R, Pihlajamäki J, Knip M, Veijola R, Toppari J, Ilonen J, Kinnunen T. Mucosal-associated invariant T cell alterations during the development of human type 1 diabetes. Diabetologia 63: 2396-2409, 2020 (doi: 10.1007/s00125-020-05257-7)
Ihantola EL, Ilmonen H, Kailaanmäki A, Rytkönen-Nissinen M, Azam A, Maillère B, Lindestam Arlehamn CS, Sette A, Motwani K, Seay HR, Brusko TM, Knip M, Veijola R, Toppari J, Ilonen J, Kinnunen T. Characterization of Proinsulin T Cell Epitopes Restricted by Type 1 Diabetes-Associated HLA Class II Molecules. J Immunol 204: 2349-2359, 2020 (doi: 10.4049/jimmunol.1901079)
Koivusaari K, Syrjälä E, Niinistö S, Takkinen HM, Ahonen S, Åkerlund M, Korhonen TE, Toppari J, Ilonen J, Peltonen J, Nevalainen J, Knip M, Alatossava T, Veijola R, Virtanen SM. Consumption of differently processed milk products in infancy and early childhood and the risk of islet autoimmunity. Br J Nutr 27: 1-8, 2020 (doi: 10.1017/S0007114520000744)
Kuusela S, Keskinen P, Pokka T, Knip M, Ilonen J, Vähäsalo P, Veijola R. Extended family history of type 1 diabetes in HLA-predisposed children with and without islet autoantibodies. Pediatr Diabetes 21: 1447-1456, 2020 (doi: 10.1111/pedi.13122)
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. Infections and systemic inflammation are associated with lower plasma concentration of insulin-like growth factor I among Malawian children. Am J Clin Nutr 31: nqaa327, 2020 (doi: 10.1093/ajcn/nqaa3279)
Miettinen ME, Niinistö S, Erlund I, Cuthbertson D, Nucci AM, Honkanen J, Vaarala O, Hyöty H, Krischer JP, Knip M, Virtanen SM; TRIGR Investigators. Serum 25-hydroxyvitamin D concentration in childhood and risk of islet autoimmunity and type 1 diabetes: the TRIGR nested case-control ancillary study. Diabetologia 63: 780-787, 2020 (doi: 10.1007/s00125-019-05077-4)
Miettinen ME, Niinistö S, Honkanen J, Erlund I, Knip M, Virtanen SM. The role of vitamin D in the aetiology of type 1 diabetes. Reply to Korsgren O [letter]. Diabetologia 63: 1281-1282, 2020 (doi: 10.1007/s00125-020-05135-2)
Mikk ML, Pfeiffer S, Kiviniemi M, Laine AP, Lempainen J, Härkönen T, Toppari J, Veijola R, Knip M, Ilonen J; Finnish Pediatric Diabetes Register. HLA-DR-DQ haplotypes and specificity of the initial autoantibody in islet specific autoimmunity. Pediatr Diabetes (in press) (doi: 10.1111/pedi.13073)
Mustonen N, Siljander H, Peet A, Tillmann V, Härkönen T, Niemelä O, Uibo R, Ilonen J, Knip M; DIABIMMUNE Study Group. Coeliac disease and HLA-conferred susceptibility to autoimmunity are associated with IgE sensitization in young children. Allergy 75: 692-694 (doi: 10.1111/all.14055)
Parkkola A, Turtinen M, Härkönen T, Ilonen J, Knip M; Finnish Pediatric Diabetes Register. Family history of type 2 diabetes and characteristics of children with newly diagnosed type 1 diabetes. Diabetologia (in press) (doi: 10.1007/s00125-020-05342-x)
Parviainen A, But A, Siljander H, Knip M; Finnish Pediatric Diabetes Register. Decreased Incidence of Type 1 Diabetes in Young Finnish Children. Diabetes Care 43: 2953-2958, 2020 (doi: 10.2337/dc20-0604)
Pöllänen PM, Ryhänen SJ, Toppari J, Ilonen J, Vähäsalo P, Veijola R, Siljander H, Knip M. Dynamics of Islet Autoantibodies During Prospective Follow-Up From Birth to Age 15 Years. J Clin Endocrinol Metab 105: e4638-51, 2020 (doi: 10.1210/clinem/dgaa624)
Ojwang V, Nwaru BI, Takkinen HM, Kaila M, Niemelä O, Haapala AM, Ilonen J, Toppari J, Hyöty H, Veijola R, Knip M, Virtanen SM. Early exposure to cats, dogs and farm animals and the risk of childhood asthma and allergy. Pediatr Allergy Immunol 31: 265-272, 2020 (doi: 10.1111/pai.13186)
Ruokolainen L, Parkkola A, Karkman A, Sinkko H, Peet A, Hämäläinen AM, von Hertzen L, Tillmann V, Koski K, Virtanen SM, Niemelä O, Haahtela T, Knip M. Contrasting microbiotas between Finnish and Estonian infants: Exposure to Acinetobacter may contribute to the allergy gap. Allergy 75: 2342-2351, 2020 (doi: 10.1111/all.14250)
Sane F, Bertin A, Sioofy-Khojine AB, Oikarinen S, Alidjinou EK, Veijola R, Toppari J, Ilonen J, Knip M, Engelmann I, Hyöty H, Hober D. Enhancing and neutralizing anti-coxsackievirus activities in serum samples from patients prior to development of type 1 diabetes. Diabetes Metab Res 36: e3305, 2020 (doi: 10.1002/dmrr.3305)
Seppälä EM, Oikarinen S, Lehtonen JP, Neupane S, Honkanen H, Tyni I, Siljander H, Ilonen J, Sillanpää S, Laranne J, Knip M, Hyöty H. Association of Picornavirus Infections With Acute Otitis Media in a Prospective Birth Cohort Study. J Infect Dis 222: 324-332, 2020 (doi: 10.1093/infdis/jiaa087)
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. Maternal antioxidant intake during pregnancy and the development of cows' milk allergy in the offspring. Br J Nutr 18: 1-8, 2020 (doi: 10.1017/S0007114520003633)
Valta M, Gazali AM, Viisanen T, Ihantola EL, Ekman I, Toppari J, Knip M, Veijola R, Ilonen J, Lempainen J, Kinnunen T. Type 1 diabetes linked PTPN22 gene polymorphism is associated with the frequency of circulating regulatory T cells. Eur J Immunol 50: 581-588, 2020 (doi: 10.1002/eji.201948378)
Virtanen SM, Knip M. Type 1 diabetes-origins and epidemiology. Lancet Diabetes Endocrinol 8: 368-369, 2020 (doi: 10.1016/S2213-8587(20)30121-2)
Genetic Epidemiology
Original Articles Heli Viljakainen
Eshriqui I, Viljakainen H, Ferreira SRG, Raju SC, Weiderpass E, Figueiredo RAO. Breastfeeding may have a long-term effect on oral microbiota: results from the Fin-HIT cohort. Int Breastfeed J 15: 42, 2020 (doi: 10.1186/s13006-020-00285-w)
Figueiredo RAO, Kajantie E, Neuvonen PJ, Rounge TB, Weiderpass E, Viljakainen H. Lifetime antimicrobial use is associated with weight status in early adolescence—A register‐based cohort study. Pediatr Obes 21: e12727, 2020 (doi: 10.1111/ijpo.12727)
Loid P, Mustila T, Mäkitie RE, Viljakainen H, Kämpe A, Tossavainen P, Lipsanen-Nyman M, Pekkinen M, Mäkitie O. Rare variants in genes linked to appetite control and hypothalamic development in early-onset severe obesity. Front Endocrinol (Lausanne) 11: 81, 2020 (doi: 10.3389/fendo.2020.00081)
Loid P, Pekkinen M, Reyes M, Mustila T, Viljakainen H, Jüppner H, Mäkitie O. GNAS, PDE4D, and PRKAR1A mutations and GNAS methylation changes are not a common cause of isolated early-onset severe obesity among finnish children. Front Pediatr 8: 145, 2020 (doi: 10.3389/fped.2020.00145)
Lommi S, Figueiredo RAO, Tuorila H, Viljakainen H. Frequent use of selected sugary products associates with thinness, but not overweight during preadolescence: a cross-sectional study. Br J Nutr 124: 631-640, 2020 (doi: 10.1017/S0007114520001361)
Raju S, Viljakainen H, Figueiredo RAO, Neuvonen PJ, Eriksson JG, Weiderpass E, Rounge TB. Antimicrobial drug use in the first decade of life influences saliva microbiota diversity and composition. Microbiome 8: 121, 2020 (doi: 10.1186/s40168-020-00893-y)
Sallinen RJ, Dethlefsen O, Ruotsalainen S, Mills RD, Miettinen TA, Jääskeläinen TE, Lundqvist A, Kyllönen E, Kröger H, Karppinen JI, Lamberg-Allardt C, Viljakainen H, Kaunisto MA, Kallioniemi O. Genetic risk score for serum 25-hydroxyvitamin D concentration helps to guide personalized vitamin D supplementation in healthy finnish adults. J Nutr (in press) (doi: 10.1093/jn/nxaa391)
Viljakainen J, Raju SC, Viljakainen H, Figueiredo RAO, Roos E, Weiderpass E, Rounge TB. Meal regularity plays a role in shaping the saliva microbiota. Front Microbiol 11:757, 2020(doi: 10.3389/fmicb.2020.00757)
Original Articles Elina Engberg
Huvinen E, Engberg E, Meinilä J, Tammelin T, Kulmala J, Heinonen K, Bergman P, Stach-Lempinen B, Koivusalo S. Lifestyle and glycemic health 5 years postpartum in obese and non-obese high diabetes risk women. Acta Diabetol 57: 1453-1462, 2020 (doi: 10.1007/s00592-020-01553-1)