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Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.

Abstract:

Polycystic ovary syndrome (PCOS) is strongly associated with hyperinsulinaemia and type II diabetes (T2D). Sequence variation within KCNJ11 (encoding Kir6.2, the beta-cell inwardly rectifying potassium channel) is implicated in the pathogenesis of neonatal diabetes, hyperinsulinaemia of infancy and multifactorial T2D. Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or ABCC8 A1369S in LD>0.9) is responsible for the known association between KCNJ11 and T2D. Give...

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Publication status:
Published

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Publisher copy:
10.1038/sj.ejhg.5201802

Authors


Barber, TM More by this author
Bennett, AJ More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Groves, CJ More by this author
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Journal:
European journal of human genetics : EJHG
Volume:
15
Issue:
6
Pages:
679-684
Publication date:
2007-06-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:2a82ce58-db37-4d56-8787-96fdc6626b1e
Source identifiers:
19080
Local pid:
pubs:19080

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