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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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Publication status:
Published

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Publisher copy:
10.1038/ng.2915

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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

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