Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Nature Genetics |
Volume | 50 |
Issue number | 2 |
Pages (from-to) | 172-174 |
Number of pages | 3 |
ISSN | 1061-4036 |
DOIs | |
Publication status | Published - 2018 |
Links
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828106/pdf/emss-75137.pdf
Accepted author manuscript
ID: 191301970