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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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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
Language:
English
Pubs id:
pubs:463131
UUID:
uuid:1246416e-726f-4534-a833-da0ce8865f5c
Local pid:
pubs:463131
Deposit date:
2014-08-21

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