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

We have identified a variant in adenylate cyclase 3 (ADCY3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice-acceptor site and carriers display decreased ADCY3 RNA expression. Additionally, we observe an enrichment of...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828106/
https://www.ncbi.nlm.nih.gov/pubmed/29311636
http://dx.doi.org/10.1038/s41588-017-0022-7
Descripción
Sumario:We have identified a variant in adenylate cyclase 3 (ADCY3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice-acceptor site and carriers display decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among type 2 diabetes patients in trans-ethnic cohorts. These findings provide novel information on disease etiology relevant for future treatment strategies.

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