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 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).

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 100 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 300 subjects have participated in the study.

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Senior Scientist

Bo Isomaa, MD, PhD


Britt Stolpe, Research Nurse (Western Finland: Vaasa)

Joona Sarkkinen, Medical Student, Research Assistant (Helsinki)

Laura Impivaara, MSSc, Research Administration Coordinator (Helsinki)

Leena Sarelin, Research Nurse (Pietarsaari)

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

Oliver Kontio, Medical Student, Research Assistant (Helsinki)

Paula Kokko, Laboratory Manager (Helsinki)

Sanna Virtaniemi, Research Nurse (Helsinki)

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.

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.

Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njølstad PR, Hansen T, Costa A, Conget I, Pedersen O, Søvik O, Lorini R, Groop L, Froguel P, Hattersley AT for The GIFT MODY Consortium. The genetic abnormality in the beta-cell determines the response to an oral glucose load. Diabetologia 2002; 45:427-435.

Lehto M, Tuomi T, Mahtani MM, Widen E, Forsblom C, Sarelin L, Gullström M, Isomaa B, Lehtovirta M, Hyrkkö A, Kanninen T, Orho M, Manley S, Turner RC, Brettin T, Kirby A, Thomas J, Duyk G, Lander E, Taskinen M, Groop L. Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect. J Clin Invest 1997;99:582-91.

Folkhälsan Research Foundation

Academy of Finland

Diabetes Wellness Foundation

European Commission

EVO Governmental Grants

Finska Läkaresällskapet (“Medical Society of Finland”)

Jakobstadsnejdens Hjärtförening (“The Heart Association of the Pietarsaari Region”)

Medicinska Understödsföreningen Liv och Hälsa (“Life and Health Medical Fund”)

Närpiö Health Care Center Fund

Sigrid Jusélius Foundation

University of Helsinki

Vaasa Health Care Center

Viktor Ollqvist Foundation

Senior Scientist

Katri Räikkönen, PhD, Professor

Post Doctoral Scientists

Liisa Hakaste, MD, PhD

Mikko Lehtovirta, MD, PhD

Om Prakash, PhD

Graduate Students

Annemari Käräjämäki, MD (Vaasa)

Jarno Kettunen, MD

Juha Kokkonen, Msc

Kadri Haljas, Msc

Undergraduate Students

Henrik Finnström, BM

Jessica Ingo, BM

Vesa Salento, Med. stud.

Senior Doctors at the centers

Björn Forsén, MD (Närpiö)

Nils Holmström, MD (Mustasaari)

Kaj Lahti, MD (Vaasa)

Mikael Nissén, MD

Johan Söderström, MD (Pietarsaari)

Bjarne Östman, MD (Pietarsaari)

Diabetes Nurses

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)

Carola Pahls, 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