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, Gerald Watts, Bronwyn Stuckey

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25 Citations (Scopus)


Objective: To investigate polymorphism 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 control, 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 see 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.
Original languageEnglish
Pages (from-to)1438-1446
JournalFertility and Sterility
Issue number5
Publication statusPublished - 2006


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