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Genetics of polycystic ovary syndrome

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Barber, T. M. and Stephen, Franks (2016) Genetics of polycystic ovary syndrome. eLS . pp. 1-7. doi:10.1002/9780470015902.a0026529

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Official URL: http://dx.doi.org/10.1002/9780470015902.a0026529

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Abstract

Polycystic ovary syndrome (PCOS) affects reproductive-aged women, manifesting reproductive and hyperandrogenic features and associated cardio-metabolic risk factors that include increased risk for development of type 2 diabetes. Twin-based studies have confirmed a heritability of ∼70% for PCOS, with likely oligogenic predisposition, its clinical and biochemical abnormalities often highlighted by weight gain. Much current literature on PCOS genetics is based on a candidate gene approach, with controversial and conflicting results from reporting of almost universally under-powered studies. In recent years, this approach has been superseded by the Genome-Wide Association Study (GWAS) with its advantage of encompassing the entire genome without any need for a priori understanding of pathophysiology. Reported GWAS in PCOS from both Chinese and European ancestry have revealed novel insight that implicate genetic variants influencing secretion and action of gonadotrophins in susceptibility for development of this condition. Epigenetic factors probably also play an important role in the heritability of PCOS.

Item Type: Journal Article
Divisions: Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Biomedical Sciences
Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Biomedical Sciences > Translational & Experimental Medicine > Metabolic and Vascular Health (- until July 2016)
Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Biomedical Sciences > Translational & Experimental Medicine
Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School
Journal or Publication Title: eLS
Book Title: eLS
Official Date: 2 March 2016
Dates:
DateEvent
2 March 2016Published
2015Accepted
Page Range: pp. 1-7
DOI: 10.1002/9780470015902.a0026529
Status: Peer Reviewed
Publication Status: Published
Access rights to Published version: Restricted or Subscription Access

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