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…
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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Forfatter:
N Grarup; I Moltke ; MK Andersen; M Dalby; K Vitting-Seerup; T Kern; Y Mahendran; E Jørsboe; CVL Larsen; IK Dahl-Petersen; A Gilly; D Suveges; G Dedoussis; E Zeggini; O Pedersen; R Andersson; Marit Eika Jørgensen; A Albrechtsen; T Hansen
Årstal:
2018
Emner:
ADCY3; Diabetes; Greenland
Titel på tidsskrift:
Nature Genetics
Volumen af tidsskriftet:
50
DOI nummer:
doi: 10.1038/s41588-017-0022-7