Heterogeneity of diabetes

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 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.

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 associated 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 against 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. We recently showed that polygenic genetic susceptibility to type 2 diabetes affects the age at diagnosis of HNF1A-MODY, one of the monogenic forms of diabetes.

The diabetes register of the Vaasa hospital district DIREVA is carried out as collaboration with the Botnia-study, University of Helsinki and Lund University in Malmö since 2007. Currently, it includes over 7000 patients.  We follow all patients with diabetes in the district to analyze factors affecting development of complications and treatment responses. The objective is better and individualized care of diabetes.