Article
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Proceedings of the National Academy of Sciences of the United States of America - 9 Sept 2014
Majithia Amit R, Flannick Jason, Shahinian Peter, Guo Michael, Bray Mark-Anthony, Fontanillas Pierre, Gabriel Stacey B, Rosen Evan D, Altshuler David
Abstract excerpt
Peroxisome proliferator-activated receptor gamma (PPARG) is a master transcriptional regulator of adipocyte differentiation and a canonical target of antidiabetic thiazolidinedione medications. In rare families, loss-of-function (LOF) mutations in PPARG are known to cosegregate with lipodystrophy and insulin resistance; in the general population, the common P12A variant is associated with a decreased risk of type...
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