Genetic analysis of type II diabetes in Finnish population

Human Genome Research

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Abstract

Type 2 diabetes (T2D) is one of the major causes of morbidity and mortality in the developed world. While environmental factors such as diet play a significant role, familial clustering indicates that there must be significant genetic susceptibility factors at work. For thirteen years we have been engaged in a large collaborative study entitled FUSION (Finland - United States Investigation of NIDDM), in which nearly 10,000 individuals with diabetes (and suitable controls) from Finland are being studied, using careful phenotyping of diabetes and diabetes associated traits, and genome-wide genetic linkage and association. Over this time, we have developed new approaches in the laboratory to achieve high throughput microsatellite and SNP genotyping, which has allowed the collection of a massive amount of data from these Finnish diabetics and their families. In the past year, we have conducted a HapMap-based genome wide association study of 1186 cases and 1171 controls, and followed this up by a stage 2 study of another 3000 samples. After combining data with two other research groups, we are able to pinpoint ten susceptibility loci for T2D, seven of which were not previously known. Additional analysis of this powerful data set has now allowed identification of five new genes that affect lipid levels, and others for fasting glucose and adult height. We are now investigating the functional basis of several of these variants, and their role in diabetes risk in a West African cohort. With this kind of substantial progress, we are confident that the geneticists nightmare (Jim Neels description of the genetics of diabetes) is coming to an end.