TY - JOUR
T1 - Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
AU - Grarup, Niels
AU - Moltke, Ida
AU - Andersen, Mette Korre
AU - Dalby, Maria
AU - Vitting-Seerup, Kristoffer
AU - Kern, Timo Sebastian
AU - Mahendran, Yuvaraj
AU - Jørsboe, Emil
AU - Larsen, Christina Viskum Lytken
AU - Dahl-Petersen, Inger Katrine
AU - Gilly, Arthur
AU - Suveges, Daniel
AU - Dedoussis, George
AU - Zeggini, Eleftheria
AU - Pedersen, Oluf Borbye
AU - Andersson, Robin
AU - Bjerregaard, Peter
AU - Jørgensen, Marit Eika
AU - Albrechtsen, Anders
AU - Hansen, Torben
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
U2 - 10.1038/s41588-017-0022-7
DO - 10.1038/s41588-017-0022-7
M3 - Journal article
C2 - 29311636
SN - 1061-4036
VL - 50
SP - 172
EP - 174
JO - Nature Genetics
JF - Nature Genetics
IS - 2
ER -