Spectrum of Genetic Variation Contributing to Type 2 Diabetes.

Type 2 diabetes is a polygenic condition, with thousands of variants of different allele frequencies jointly leading to disease development. The plot demonstrates the general relationship that exists between variant allele frequency and effect on disease risk. At one extreme, very rare variation causes monogenic forms of diabetes, which represent a distinct subtype of diabetes that shares overlapping features with type 2 diabetes and is often misdiagnosed as type 2 diabetes. At the other extreme, common genetic variants identified largely through GWAS confer small odds ratios for disease. Variation falling in the middle of the allele frequency spectrum has been more challenging to identify due to very large studies being required for adequate discovery power. GWAS, genome-wide association study.

SOURCE: Original figure constructed by R. J. Kreienkamp and M. S. Udler, using BioRender.com