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

Nat Genet 2018 02 8;50(2):172-174. Epub 2018 Jan 8.

Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

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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Source
http://dx.doi.org/10.1038/s41588-017-0022-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828106PMC
February 2018
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