期刊
NATURE GENETICS
卷 50, 期 2, 页码 172-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-017-0022-7
关键词
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资金
- Danish Council for Independent Research [11-120909, DFF-4090-00244, 6108-00038B, DFF-4181-00383]
- Steno Diabetes Center Copenhagen
- Simon Fougner Hartmanns Familiefond
- Lundbeck Foundation [R215-2015-4174]
- Novo Nordisk Foundation [NNF15OC0017918, NNF16OC0019986, NNFCC0018486]
- European Research Council (ERC) under the European Union's Horizon research and innovation programme [638173]
- Karen Elise Jensen's Foundation
- Department of Health in Greenland
- NunaFonden
- Medical Research Council of Denmark
- Medical Research Council of Greenland
- Commission for Scientific Research in Greenland
- Lundbeck Foundation [R215-2015-4174] Funding Source: researchfish
- NNF Center for Basic Metabolic Research [Pedersen Group, Grarup Group] Funding Source: researchfish
- Novo Nordisk Fonden [NNF15OC0017918, NNF16OC0019986, NNF15SA0018486, NNF17SH0027192, NNF17OC0028136] Funding Source: researchfish
- Steno Diabetes Center Copenhagen (SDCC) [SDCC 3. B Epidemiology] Funding Source: researchfish
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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