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Nat Genet. 2018 Feb;50(2):172-174. doi: 10.1038/s41588-017-0022-7. Epub 2018 Jan 8.

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

Author information

1
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
2
Bioinformatics Centre, Department of Biology, University of Copenhagen, Copenhagen, Denmark.
3
Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark.
4
National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark.
5
Greenland Centre for Health Research, University of Greenland, Nuuk, Greenland.
6
Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.
7
Department of Nutrition and Dietetics, Harokopio University of Athens, Athens, Greece.
8
National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark. marit.eika.joergensen@regionh.dk.
9
Greenland Centre for Health Research, University of Greenland, Nuuk, Greenland. marit.eika.joergensen@regionh.dk.
10
Steno Diabetes Center Copenhagen, Gentofte, Denmark. marit.eika.joergensen@regionh.dk.
11
Bioinformatics Centre, Department of Biology, University of Copenhagen, Copenhagen, Denmark. albrecht@binf.ku.dk.
12
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. torben.hansen@sund.ku.dk.
13
Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark. torben.hansen@sund.ku.dk.

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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