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...
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Veröffentlicht in: | Nature genetics 2018-02, Vol.50 (2), p.172-174 |
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Sprache: | eng |
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Zusammenfassung: | 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.
Individuals from a Greenlandic Inuit population with homozygous loss-of-function variants in
ADCY3
(adenylate cyclase 3) have increased risk for obesity and type 2 diabetes. Carriers of rare
ADCY3
variants in trans-ancestry populations also show increased association with type 2 diabetes. |
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ISSN: | 1061-4036 1546-1718 |
DOI: | 10.1038/s41588-017-0022-7 |