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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
Version:
Accepted manuscript

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Publisher copy:
10.2337/db16-1329

Authors


Manning, A More by this author
Highland, HM More by this author
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Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
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Department:
Oxford, MPLS, Materials
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Academy of Finland More from this funder
Action on Hearing Loss More from this funder
Ahokas Foundation More from this funder
American Diabetes Association More from this funder
Atlantic Canada Opportunities Agency More from this funder
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Publisher:
American Diabetes Association Publisher's website
Journal:
Diabetes Journal website
Publication date:
2017-03-05
Acceptance date:
2017-03-13
DOI:
EISSN:
1939-327X
ISSN:
0012-1797
Pubs id:
pubs:687297
URN:
uri:18c8992b-2055-4a17-91a7-12463fcd91ea
UUID:
uuid:18c8992b-2055-4a17-91a7-12463fcd91ea
Local pid:
pubs:687297
Language:
English
Keywords:

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