Article
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes.
Nature genetics - 1 Feb 2018
Grarup Niels, Moltke Ida, Andersen Mette K, Dalby Maria, Vitting-Seerup Kristoffer, Kern Timo, Mahendran Yuvaraj, Jørsboe Emil, Larsen Christina V L, Dahl-Petersen Inger K, Gilly Arthur, Suveges Daniel, Dedoussis George, Zeggini Eleftheria, Pedersen Oluf, Andersson Robin, Bjerregaard Peter, Jørgensen Marit E, Albrechtsen Anders, Hansen Torben
Abstract excerpt
We have identified a variant in ADCY3 (encoding adenylate cyclase 3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice acceptor site, and carriers have decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among individuals with type 2 diabetes in trans-ancestry cohorts. These...
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