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The Botnia Study – Diabetes in Western Finland

The Botnia Study has four aims: To characterize the early metabolic defects in individuals at risk of developing type 2 diabetes; To identify genetic variants predisposing to these defects and type 2 diabetes; To study how the identified genetic variants and biomarkers can predict the development of type 2 diabetes and progression of the disease; To identify means to prevent the development of type 2 diabetes.

The Botnia Study is one of the largest diabetes family studies in the world, initiated in 1990 on the western coast of Finland in the Gulf of Bothnia. Four different substudies fit under the umbrella of the Botnia Study: (1) the initial family based Botnia study comprising 11000 individuals; (2) a prospective 10-year follow-up of 2800 individuals; (3) a population based study of 5200 individuals aged 18-75 years from the same region (the Prevalence, Prediction and Prevention of Diabetes, PPP-Botnia Study) with an ongoing 6-year follow-up study; and (4) a newly launched registry (DIREVA) covering all diabetic patients in the region which at the moment includes >4000 individuals. Extensive phenotype information is available for all study participants.
The study includes individuals from about 4000 families (about 1000 independent trios).

Lund University, Sweden; University of Helsinki, Finland; Folkhälsan Research Center, Finland
Principal Investigator:
Leif Groop, firstname.lastname (at)
Vice principal investigator:
Tiinamaija Tuomi, firstname.lastname (at)
Contact persons:
Ulrika Blom-Nilsson, firstname.lastname (at)
Laura Impivaara, firstname.lastname (at)

Key references:
Metabolic consequences of a family history of NIDDM (the Botnia Study): evidence for sex-
specific parental effects. Groop L, Forsblom C, Lehtovirta M, Tuomi T, Karanko S, Nissén M, Ehrnström BO, Forsén B, Isomaa B, Snickars B, Taskinen MR. Diabetes. 1996 Nov; 45(11):1585-93

Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study.
Almgren P, Lehtovirta M, Isomaa B, Sarelin L, Taskinen MR, Lyssenko V, Tuomi T, Groop L;
 Botnia Study Group. Diabetologia. 2011 Nov; 54(11):2811-9

Stressful life events and the metabolic syndrome: the prevalence, prediction and prevention of
diabetes (PPP)-Botnia Study. Pyykkönen AJ, Räikkönen K, Tuomi T, Eriksson JG, Groop L, Isomaa B. Diabetes Care. 2010 Feb; 33(2):378-84