Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome

M.R. Jones; L. Italiano; S.G. Wilson; B.H. Mullin; R. Mead; F. Dudbridge; G.F. Watts; B.G.A. Stuckey

doi:10.1016/j.fertnstert.2006.04.027

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Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome

Journal article

Peer reviewed

Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome

M.R. Jones, L. Italiano, S.G. Wilson, B.H. Mullin, R. Mead, F. Dudbridge, G.F. Watts and B.G.A. Stuckey

Fertility and Sterility, Vol.86(5), pp.1438-1446

11/2006

DOI: https://doi.org/10.1016/j.fertnstert.2006.04.027

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Abstract

Objective: To investigate polymorphisms in androgen metabolism regulators that are implicated in the etiology of polycystic ovary syndrome (PCOS) in vitro; to investigate HSD17B6 and GATA6 to determine whether these genes are associated with susceptibility to PCOS or key phenotypic features of patients with PCOS. Design: Case-control association study. Setting: Participants with PCOS were recruited from a clinical-practice database, and controls, from the general community. Patient(s): One hundred seventy-three patients with PCOS and who were of Caucasian descent and conformed to the National Institutes of Health (NIH) diagnostic criteria; 107 normally ovulating women of Caucasian descent from the general community. Intervention(s): Drawing of blood for DNA extraction. Main Outcome Measure(s): Frequency of HSD17B6 and GATA6 polymorphisms in cases and controls. Association of single-nucleotide polymorphisms from HSD17B6 in subjects with PCOS with key phenotypes of PCOS: androgen status, insulin resistance, and body mass index. Result(s): Allele distribution for the single-nucleotide polymorphism rs898611 in HSD17B6 was significantly different between PCOS and control subjects (P=.03). Presence of the polymorphic allele was associated with reduced fasting glucose-insulin ratio (P=.02) and increased homeostasis model assessment (P<.01) and body mass index (P<.001) as well as with reduced T (P=.03) in the PCOS group. No association was seen between GATA6 and any of the variables studied. Conclusion(s): These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder.

Details

Title: Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome
Authors/Creators: M.R. Jones (Author/Creator) - Sir Charles Gairdner Hospital
L. Italiano (Author/Creator) - Sir Charles Gairdner Hospital
S.G. Wilson (Author/Creator) - The University of Western Australia
B.H. Mullin (Author/Creator) - Sir Charles Gairdner Hospital
R. Mead (Author/Creator) - Murdoch University
F. Dudbridge (Author/Creator) - MRC Biostatistics Unit
G.F. Watts (Author/Creator) - The University of Western Australia
B.G.A. Stuckey (Author/Creator) - Keogh Institute for Medical Research
Publication Details: Fertility and Sterility, Vol.86(5), pp.1438-1446
Publisher: Elsevier
Identifiers: 991005546026407891
Copyright: © 2006 American Society for Reproductive Medicine.
Murdoch Affiliation: School of Biological Sciences and Biotechnology
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.81 Reproductive Biology; 1.81.510 PCOS and Infertility
Web Of Science research areas: Obstetrics & Gynecology; Reproductive Biology
ESI research areas: Clinical Medicine