Group Tuomi

The Botnia Study

The research of the Botnia Study Group aims at characterizing the genetic and environmental factors predisposing to diabetes and its complications. In addition to unravelling the complex interacting metabolic pathways, we hope to find tools for individualized prevention and treatment of diabetes.

The Botnia Study

The Botnia Study started in 1990 at three centers in Närpes, Korsholm and Malax-Korsnäs. Later, the study expanded to Jakobstad, Vasa, Helsinki and southern Sweden.

The Botnia Family Study and the population-based PPP-Botnia Study (Prevalence, Prediction and Prevention of Diabetes) include nearly 17,000 subjects of whom ~20% have diabetes.

To study the prognostic significance of the identified risk factors and genotypes at the population level, we completed a 6-year follow-up study of the PPP-Botnia 2011–2015. The follow-up study finished with great success (3,870 individuals, 77% participation rate). The second follow-up started in 2018 and all those alive who participated in the first examination are going to be invited. In 2019 we will start to invite new cohort of 18-29 years old study subjects, that have been randomly selected from the population register.

Type 2 diabetes (T2D) is a complex disease caused by several interacting genes and environmental factors. To date, together with our collaborators, we have identified over 400 genes that associate with T2D and its subphenotypes. Many of these genes have shed light on new pathways affecting insulin secretion; e.g. the sleep hormone melatonin seems to affect insulin secretion in beta cells, and melatonin treatment increases the diabetes risk in carriers of melatonin receptor risk genotype. Another project involves mechanistic studies in families with a rare loss-of-function mutation in SLC30A8 zinc transporter, which we have shown to protect from T2D.

Recruitment in the FinnMody Study on monogenic diabetes in Finland is ongoing and so far about 500 new participants have been accepted in the study. In addition, 250 old participants have been included from the Botnia-study.

Direva is the diabetes register of the Vaasa hospital district, which is carried out through the co-operation with Lund University in Malmö, Botnia-study and University of Helsinki. Direva is a long term follow-up study which begun in 2007. In 2019, there are over 7000 diabetics in the register. Estimation is that there are about 10 000 diabetics in Vaasa hospital district. The objective is better and individualized care of diabetes.

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Senior Scientist

Bo Isomaa, MD, PhD

Post doctoral Scientist

Minna Harsunen, MD, PhD


Paula Kokko, Laboratory Manager (Helsinki)

Eeva Puumala, research nurse (Helsinki)

Britt Stolpe, Research Nurse (Western Finland: Vaasa)

Leena Sarelin, Research Nurse (Pietarsaari)

Laura Impivaara, MSSc, Research Administration Coordinator (Helsinki)

Karolina Kivimäki, Medical Student, Research Assistant (Helsinki)

Monika Gullström, Research Nurse (Western Finland: Närpiö consultant)

Dwivedi OP, Lehtovirta M, Hastoy B, Chandra V, Kleiner S, Jain D, Richard A-M, Beer N, Krentz NAJ, Prasad RB, Hansson O, Ahlqvist E, Krus U, Artner I, Gomez D, Baras A, Abaitua F, Champon B, Payne AJ, Moralli D, Thomsen SK, Kramer P, Spiliotis I, Ramracheya R, Chabosseau P, Theodoulou A, Cheung R, van de Bunt M, Flannick J, Trombetta M, Bonora E, Wolheim CB, Sarelin L, Bonadonna RC, Rorsman P, Rutter GA, Davies B, Brosnan J, McCarthy MIM, Otonkoski T, Lagerstedt JO, Gromada J, Gloyn AL, Tuomi T, Groop LC. Loss of ZnT8 function protects against diabetes by enhanced insulin secretion.  Nature Genetics 2019, in press.

Ahlqvist E, Storm P, Käräjämäki A, Martinell M, Dorkhan M, Carlsson A, Vikman P, Prasad RB, Aly DM, Almgren P, Wessman Y, Shaat N, Spégel P, Mulder H, Lindholm E, Melander O, Hansson O, Malmqvist U, Lernmark Å, Lahti K, Forsén T, Tuomi T, Rosengren AH, Groop L. Novel subgroups of adult-onset diabetes and their association with outcomes: a data-driven cluster analysis of six variables.  The Lancet Diabetes & Endocrinology 2018 May;6(5):361-369. 

Di Camillo B, Hakaste L, Sambo F, Gabriel R, Kravic J, Isomaa B, Tuomilehto B, Alonso M, Longato E, Facchinetti A, Groop L, Cobelli C, Tuomi T. HAPT2D: High accuracy of prediction of T2D with a model combining basic and advanced data depending on availability. Eur J Endocrinol, 2018 Apr;178(4):331-341.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon M. Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance. Nature Communications 2017 Oct 12;8(1):888.

Kettunen J, Parviainen H, Miettinen PJ, Färkkilä M, Tamminen M, Salonen P, Lantto E, Tuomi T. Biliary Anomalies in Patients with HNF1B-Diabetes. J Clin Endocrinol Metab. 2017 Jun 1;102(6):2075-2082.

Tuomi T, Nagorny CLF, Singh P, Bennet H, Yu Q, Alenkvist I, Isomaa B, Östman B, Söderström J, Pesonen A-K, Martikainen S, Räikkönen K, Forsén T, Hakaste L, Almgren P, Storm P, Asplund O, Shcherbina L, Fex M, Fadista J, Tengholm A, Wierup N, Groop L, and Mulder H. Increased melatonin signaling is a risk factor for Type 2 Diabetes. Cell Metabolism 2016; Jun 14;23(6):1067-77.

Ottosson-Laakso E., Tuomi T., Forsen B., Gullström M., Groop P-H, Groop L., Vikman P. Influence of Familial Renal Glycosuria due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance Over Time. Plos One, 2016 Jan 6;11(1):e0146114.

Andersen M, Sterner M, Forsén T, Käräjämäki A, Rolandsson O, Forsblom C, Groop PH, Lahti K, Nilsson PM, Groop L, Tuomi T. Type 2 diabetes susceptibility gene variants predispose to adult-onset autoimmune diabetes. Diabetologia, 2014: 57(9):1859-68.

Lundgren V, Isomaa B, Lyssenko V, Laurila E, Korhonen P, Groop L, Tuomi T for the Botnia Study Group. GADA antibody positivity predicts type 2 diabetes in adult population. Diabetes 2010; 59(2):416-22.

Andersen M, Lundgren V, Isomaa B, Turunen J, Forsblom C, Groop P-H, Groop L, Tuomi T. Latent Autoimmune Diabetes in Adults differs genetically from classical type 1 diabetes diagnosed after the age of 35 years. Diabetes Care 2010; 33(9):2062-4.

Cuesta-Muñoz AL, Tuomi T, Cobo-Vuilleumier N, Koskela H, Odili S, Stride A, Buettger C, Otonkoski T, Froguel P, Grimsby J, Garcia-Gimeno M, Matschinsky FR. Clinical Heterogeneity in Maturity Onset Diabetes of the Young type 2 (MODY2) caused by mutations in the glucokinase gene. Diabetes Care 2010 33:290-292. 

Lyssenko V, Nagorny CLF, Erdos MR, Wierup N, Jonsson A, Spégel P, Bugliani M, Saxena R, Fex M, Pulizzi N, Isomaa B, Tuomi T, Nilsson P, Kuusisto J, Tuomilehto J, Boehnke M, Altshuler D, Sundler F, Eriksson JG, Jackson AU, Laakso M, Marchetti P, Watanabe RM, Mulder H, Groop L. A common variant in the melatonin receptor gene (MTNR1B) is associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nature Genetics 2009; 41: 82-88.

Lyssenko V, Jonsson A, Almgren P, Pulizzi N, Isomaa B, Tuomi T, Berglund G, Altshuler D, Nilsson P, Groop L. Clinical risk factors, DNA variants and the development of type 2 diabetes. NEJM 2008; 359: 2220-32.

Lyssenko V, Orho-Melander M, Sjögren M, Ling C, Lupi R, Marchetti P, DelPrato S, Eriksson, K-F, Lethagen Å-L, Berglund G, Tuomi T, Nilsson P, Groop L. Mechanisms by which Common variants in the TCF7L2 gene increase risk of future type 2 diabetes by influencing pancreatic alpha and beta-cell function. J Clin Invest 2007; 117: 2155-63.

The Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University and Novartis Institutes for Biomedical Researh. Broad Institute of Harvard and MIT: Altshuler D, Burtt NP, Daly M, de Bakker P, Florez JC, Gabriel S, Gianniny L, Guiducci C, Hackett R, Handsaker B, Hirschhorn J, Kathiresan S, Lettre G, Lyon H, Mootha V, Newton-Cheh C, Nizzari M, Saxena R, Speliotes E, Tewhey R, Voight B,; Lund University and Helsinki University: Almgren P, Berglund A, Groop L, Isomaa B, Laurila E, Lyssenko V, Melander O, Orho-Melander M, Nilsson P, Parikh H, Svensson M, Svensson M, Taskinen M-R, Tuomi T; Novartis Institutes for BioMedical Research: Chen H, Ma Q, Meyer J, Richardson D, Roix J, Ricke D, Hughes T. A Genome-Wide Association Study for Type 2 Diabetes and 18 Related Metabolic Traits. Science 2007; 316: 1331-1336.

Lyssenko V, Almgren P, Anevski D, Perfekt R, Lahti K, Isomaa B, Forsen B, Nissén M, Homström N, Saloranta C , Taskinen M-R, Groop L and Tuomi T. Predictors and longitudinal changes in insulin sensitivity and secretion preceding onset of type 2 diabetes. Diabetes 2005; 54:166-174.

Folkhälsan Research Foundation

University of Helsinki

Academy of Finland

Helsinki University Hospital (HUS) Research funding

Ollqvist foundation

Sigrid Juselius foundation

Medicinska Understödsföreningen Liv och Hälsa r.f.

The Diabetes Research Foundation in Finland

Novo Nordisk Fonden

Signe och Ane Gyllenberg foundation

The hospital district of Vaasa

Vaasa municipal health center

Närpes healthcare foundation and  municipal health center

Mustasaari municipal health center

Maalahti-Korsnäs municipal health center

Post Doctoral Scientists

Liisa Hakaste, MD, PhD

Mikko Lehtovirta, MD, PhD

Om Prakash, PhD

Vasudha Ahuja, MBBS, MPH, PhD

Graduate Students

Annemari Käräjämäki, MD (Vaasa)

Jarno Kettunen, MD

Iiro Karhiaho, MD

Undergraduate Students

Peik Pietilä, Med. Stud.

Iina Elfving, Med. Stud.

Karolina Kivimäki, Med. Stud.

Kaisa Teperi, Med. Stud.

Vesa Salento, Med. stud.

Senior Doctors at the centers

Björn Forsén, MD (Närpiö)

Kaj Lahti, MD (Vaasa)

Bjarne Östman, MD (Pietarsaari)

Sofia Svartsjö, MD (Mustasaari)

Filip Koskinen, MD (Mustasaari)

Diabetes Nurses

Carola Pahls, Research Nurse (Vaasa, DIREVA)

Susanna Söderback, Diabetes Nurse (Närpiö)

Siv Lundström, Diabetes Nurse (Pietarsaari)

Ulla-Britt Björk, Diabetes Nurse (Mustasaari)

Sonja Paulaharju, Diabetes Nurse (Vaasa)

Lisa Sundman, Research Nurse (Vaasa, DIREVA)



    • Tiinamaija Tuomi

      MD, PhD, Docent, Group Leader

    • Tel:
      +358 50 427 9013

    • Contact
    • Leif Groop

      MD, PhD, Professor, Co-PI

    • Tel:
      +358 9 4717 1909

    • Contact