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A low-frequency inactivating Akt2 variant enriched in the Finnish population is associated with fasting insulin levels and Type 2 Diabetes risk.

Abstract:

To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting insulin, a gene in which rare fully penetrant mutations are...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.2337/db16-1329

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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Institution:
University of Oxford
Division:
MPLS
Department:
Materials
Role:
Author
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Commission of the European Communities, More from this funder
Canada Foundation for Innovation More from this funder
Copenhagen County More from this funder
Directorate C-Public Health More from this funder
Danish Centre for Evaluation and Health Technology Assessment More from this funder
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Publisher:
American Diabetes Association Publisher's website
Journal:
Diabetes Journal website
Publication date:
2017-03-01
Acceptance date:
2017-03-13
DOI:
EISSN:
1939-327X
ISSN:
0012-1797
Source identifiers:
687297
Language:
English
Keywords:
Pubs id:
pubs:687297
UUID:
uuid:18c8992b-2055-4a17-91a7-12463fcd91ea
Local pid:
pubs:687297
Deposit date:
2017-04-26

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