Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
We have identified a variant in adenylate cyclase 3 (ADCY3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice-acceptor site and carriers display decreased ADCY3 RNA expression. Additionally, we observe an enrichment of...
Published in: | Nature Genetics |
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Main Authors: | , , , , , , , , , , , , , , , , , , , |
Format: | Text |
Language: | English |
Published: |
2018
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Subjects: | |
Online Access: | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828106/ http://www.ncbi.nlm.nih.gov/pubmed/29311636 https://doi.org/10.1038/s41588-017-0022-7 |
Summary: | We have identified a variant in adenylate cyclase 3 (ADCY3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice-acceptor site and carriers display decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among type 2 diabetes patients in trans-ethnic cohorts. These findings provide novel information on disease etiology relevant for future treatment strategies. |
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