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...
Published in: | Nature Genetics |
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Main Authors: | , , , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
2018
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Subjects: | |
Online Access: | https://portal.findresearcher.sdu.dk/da/publications/b38218de-aadf-4d6d-8656-c658f332c8ed https://doi.org/10.1038/s41588-017-0022-7 https://findresearcher.sdu.dk/ws/files/151780652/emss_75137.pdf |
Summary: | 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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