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

Michelle R Jones¹, Lisa Italiano, Scott G Wilson

¹Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.

Fertility and Sterility

|October 31, 2006

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.

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