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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- Publication status:
- Published
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- Publisher copy:
- 10.1038/ng.2915
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Authors
Bibliographic Details
- Journal:
- Nature genetics
- Volume:
- 46
- Issue:
- 4
- Pages:
- 357-363
- Publication date:
- 2014-04-01
- DOI:
- EISSN:
-
1546-1718
- ISSN:
-
1061-4036
- Source identifiers:
-
450938
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:450938
- UUID:
-
uuid:5dde6874-e8e1-4637-a28f-1ad554d91e1d
- Local pid:
- pubs:450938
- Deposit date:
- 2014-05-09
Terms of use
- Copyright date:
- 2014
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