Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.

@article{Majithia2014RareVI,
  title={Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.},
  author={Amit R. Majithia and Jason A. Flannick and Peter Shahinian and Michael H. Guo and Mark-Anthony Bray and Pierre Fontanillas and Stacey Bolk Gabriel and Evan D Rosen and David M Altshuler},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2014},
  volume={111 36},
  pages={13127-32}
}
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 2 diabetes (T2D). Whether and how rare variants in PPARG and defects in adipocyte… CONTINUE READING
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