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

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 enrich...

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Bibliographic Details
Published in:Nature Genetics
Main Authors: Grarup, Niels, Moltke, Ida, Andersen, Mette Korre, Dalby, Maria, Vitting-Seerup, Kristoffer, Kern, Timo Sebastian, Mahendran, Yuvaraj, Jørsboe, Emil, Larsen, Christina Viskum Lytken, Dahl-Petersen, Inger Katrine, Gilly, Arthur, Suveges, Daniel, Dedoussis, George, Zeggini, Eleftheria, Pedersen, Oluf Borbye, Andersson, Robin, Bjerregaard, Peter, Jørgensen, Marit Eika, Albrechtsen, Anders, Hansen, Torben
Format: Article in Journal/Newspaper
Language:English
Published: 2018
Subjects:
greenlandic
Online Access:https://curis.ku.dk/portal/da/publications/lossoffunction-variants-in-adcy3-increase-risk-of-obesity-and-type-2-diabetes(b02114f3-f158-42ba-a481-074a2a859f45).html
https://doi.org/10.1038/s41588-017-0022-7
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828106/pdf/emss-75137.pdf
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Summary: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.

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