FUSION (Finland-United States Investigation of NIDDM Genetics) Study

The goal of the Finland-United States Investigation of NIDDM Genetics (FUSION) study is to map and identify genetic variants that predispose to type 2 diabetes mellitus (T2D) or are responsible for variability in diabetes-related quantitative traits.

T2D is a common disease characterized by resistance of hepatic and peripheral tissues to insulin and a relative deficiency of insulin secretion. While disease prevalence varies by age, sex, and population, it has been estimated that in 2005, 20.6 million Americans (9.6%) aged =20 years and 10.3 million Americans (20.9%) aged =60 years suffered from diabetes (American Diabetes Association). Similar rates have been observed in Finland. T2D results in substantial morbidity and mortality, and T2D incidence and prevalence are increasing worldwide. In the USA alone, it was estimated that medical expenditures due to diabetes totaled $132 billion in 2002, ~10% of USA health care costs (American Diabetes Association). There is substantial evidence of a genetic component in the etiology of type 2 diabetes.

Recently, genome-wide association studies of type 2 diabetes have identified a host of genetic loci that play a role in disease risk and are responsible for variability in diabetes traits such as body mass index, glucose levels, and lipid levels. Once chromosomal regions of interest are identified, genetic fine mapping and resequencing can be used to localize the relevant genetic variants, while functional studies hold promise to identify them. Identifying the relevant genes and variants will help elucidate the complex etiology of T2D, assist in disease classification, help identify novel drug and behavioral therapies and improve targeting of therapies, and support more accurate prediction of T2D risk for personalized preventive medicine.

Summary results of a genome-wide association study of type 2 diabetes (T2D) from the FUSION, DGI, and WTCCC/UKT2D groups as described in Zeggini, Scott, Saxena, Voight, for the DIAGRAM Consortium. T2D association meta-analysis results are presented for >2.2 million genotyped or imputed SNPs, with meta-analysis p-values calculated based on signed z-scores from the individual studies. Alleles are coded based on the forward strand of human genome build 35.

If you use these data, please cite Meta-analysis of Genome-wide Association Data and Large-scale Replication Identifies Additional Susceptibility Loci for Type 2 Diabetes, Nature Genetics 40:638-645. Published Online 30 March 2008, doi:10.1038/ng.120.