Journal article
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
- Abstract:
-
Loss-of-function mutations protective against human disease provide in vivo validation of therapeutic targets, but none have yet been described for type 2 diabetes (T2D). Through sequencing or genotyping of ∼150,000 individuals across 5 ancestry groups, we identified 12 rare protein-truncating variants in SLC30A8, which encodes an islet zinc transporter (ZnT8) and harbors a common variant (p.Trp325Arg) associated with T2D risk and glucose and proinsulin levels. Collectively, carriers of prote...
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- Publisher copy:
- 10.1038/ng.2915
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Authors
Bibliographic Details
- Publisher:
- Nature Publishing Group
- Journal:
- Nature Genetics
- Volume:
- 46
- Issue:
- 4
- Pages:
- 357-363
- Publication date:
- 2014-01-01
- DOI:
- EISSN:
-
1546-1718
- ISSN:
-
1061-4036
- Source identifiers:
-
463131
Item Description
- Language:
- English
- Pubs id:
-
pubs:463131
- UUID:
-
uuid:1246416e-726f-4534-a833-da0ce8865f5c
- Local pid:
- pubs:463131
- Deposit date:
- 2014-08-21
Terms of use
- Copyright date:
- 2014
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