Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

Research output: Contribution to journalJournal articleResearchpeer-review

Niels Grarup, Ida Moltke, Mette Korre Andersen, Maria Dalby, Kristoffer Vitting-Seerup, Timo Sebastian Kern, Yuvaraj Mahendran, Emil Jørsboe, Christina Viskum Lytken Larsen, Inger Katrine Dahl-Petersen, Arthur Gilly, Daniel Suveges, George Dedoussis, Eleftheria Zeggini, Oluf Borbye Pedersen, Robin Andersson, Peter Bjerregaard, Marit Eika Jørgensen, Anders Albrechtsen, Torben Hansen

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 findings provide new information on disease etiology relevant for future treatment strategies.

Original languageEnglish
JournalNature Genetics
Issue number2
Pages (from-to)172-174
Number of pages3
Publication statusPublished - 2018

ID: 191301970