Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
Nature genetics, 2018•nature.com
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.
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.
Abstract
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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