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Title:

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.

Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Article
Author(s):
Flannick, Jason; Thorleifsson, Gudmar; Beer, Nicola L; Jacobs, Suzanne B R; Grarup, Niels; Burtt, Noël P; Mahajan, Anubha; Fuchsberger, Christian; Atzmon, Gil; Benediktsson, Rafn; Blangero, John; Bowden, Don W; Brandslund, Ivan; Brosnan, Julia; Burslem, Frank; Chambers, John; Cho, Yoon Shin; Christensen, Cramer; Douglas, Desirée A; Duggirala, Ravindranath; Dymek, Zachary; Farjoun, Yossi; Fennell, Timothy; Fontanillas, Pierre; Forsen, Tom; Gabriel, Stacey; Glaser, Benjamin; Gudbjartsson, Daniel F...     »
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 protein-...     »
Journal title abbreviation:
Nat Genet
Year:
2014
Journal volume:
46
Journal issue:
4
Pages contribution:
357-63
Language:
eng
Fulltext / DOI:
doi:10.1038/ng.2915
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/24584071
Print-ISSN:
1061-4036
TUM Institution:
Institut für Humangenetik
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