To learn more about causal mechanisms in type 2 diabetes, DZD scientists and international colleagues investigated genes that are associated with diabetes. The researchers performed fine mapping of 39 established type 2 diabetes loci in 27,206 cases and 57,574 controls of European ancestry within the DIAGRAM (DIAbetes Genetics Replication And Meta-analysis) consortium. They identified 49 distinct association signals at these loci. Most of the T2D association signals are primarily driven by noncoding alleles, with effects that are mediated through gene regulation.
The study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Genetics. doi: 10.1038/ng.3437. December 1, 2015
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