Type 2 diabetes (T2DM) is a major cause of morbidity and mortality in the USA and around the world. While disease prevalence varies, it has been estimated that 6.6 percent of the US population aged 20-74 years suffers from T2DM; similar rate has been observed in Finland. In the US, it has been estimated that diabetes is responsible for nearly 1/7 of all health care expenditures. There is substantial evidence of a genetic component in the etiology of T2DM. The Finnish population provides an ideal basis for studies of complex genetic diseases such as T2DM due to its relative genetic homogeneity, excellent data sources, and a population strongly supportive of medical research. The goal of the Finland-United States Investigation of NIDDM Genetics (FUSION) study is to identify genetic variants that predispose to T2DM (formerly non-insulin-dependent diabetes mellitus or NIDDM) and are responsible for variability in T2DM-related quantitative traits. As part of FUSION, a total of 4852 individuals have been sampled, including 855 families ascertained through T2DM-affected sibling pairs and 231 independent elderly normoglycemic controls and their families. Genome scans on two independent sets of T2DM Finnish families have been completed, and fine mapping of several chromosomal regions has begun. In the next five years, FUSION investigators will sample and/or phenotype approximately 1700 additional members of the FUSION families, carry out limited additional phenotyping of current FUSION samples, obtain independent samples of about 600 T2DM cases and about 800 controls, fine map regions of chromosomes 22, 20, and 11, and seek to identify the relevant T2DM-predisposing variants. FUSION investigators will continue and expand collaborations with other investigators seeking to map and clone variants for T2DM, through continued involvement in the International T2DM Linkage Analysis Consortium and other new and established collaborations. The proposed research builds logically on the investigators' past work, and will likely result in identification of one or more T2DM-predisposing variants during the coming project period. These efforts should contribute in a significant way to improved understanding of the etiology of T2DM, and point the way to novel methods of treatment and prevention. Methods developed and lessons learned in FUSION will also be useful in the study of other complex genetic diseases.
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