Genomics of Type 2 Diabetes and Related Disorders
Diabetes mellitus is a lifelong, incapacitating disease affecting multiple organs. Worldwide prevalence figures estimate that there are 350 million diabetic patients in 2013 and more than 550 million in 2030. In Finland, 320.000 people received anti-diabetic treatment in 2011, but the number of individuals with undiagnosed diabetes might increase the number to 500,000 people; of them about 90% has type 2 diabetes (T2D), thereby making T2D to the fastest increasing disease in Finland and worldwide. This epidemic has been ascribed to a collision between genes and the environment, but dissection of the genomics of T2D will not only benefit from the rapid development of sequencing tools but will also require a much better phenotyping of diabetic subgroups than hitherto applied .
The classical subdivision of diabetes into Type 1 diabetes (T1D) and T2D is an oversimplification and it is rather likely that they represent the extremes of a continuum with T1D with insulin deficiency due to autoimmune causes on one end and T2D with metabolic syndrome on the other. About 15 years ago we described another form of diabetes, LADA (Latent Autoimmune Diabetes in Adults) which seems to represent an admixture of the two main forms of diabetes.
The overall goal is to halt the epidemic by finding a cure for T2D. To achieve this ambitious goal we need to understand genetic and non-genetic causes of T2D and be able to distinguish it from other forms of diabetes. A key resource in these attempts is the Botnia Study.
The Botnia Study
The Botnia Study was initiated 1990 on the Western Coast of Finland near the Gulf of Bothnia. The study includes information on 25962 individuals from 1131 families. In addition, the Botnia Prospective Study (BPS) includes 2700 persons followed for 10 years, 300 of whom developed T2D. The population-based PPP-study( Prevalence Prediction Prevention of T2D) includes 5200 individuals aged 18-75 yrs with a 5-year follow-up carried out in more than 3000 persons.. The DIREVA (Diabetes Registry Vaasa) currently includes more than 4,500 patients from the region but is predicted to include most patients including information on disease progression, complications and treatment.
The aims of the Botnia Study are:
- Describe the metabolic disturbances leading to T2D
- Identify the genetic causes of T2D
- Use this information to predict the disease
- Use this information to prevent the disease
The Botnia study includes information on 25962 individuals from 1131 families. In addition, the Botnia Prospective Study (BPS) includes 2700 persons followed for 10 years, 150 of whom developed T2D. The population-based PPP-study includes 5200 individuals aged 18-75 yrs. The DIREVA (Diabetes Registry Vaasa) currently includes 4,500 patients but is predicted to include 10,000 well characterized patients in 2014.