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This version published online on October 16, 2007
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2007-1712
A more recent version of this article appeared on January 1, 2008
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Right arrow Female Endocrinology

Submitted on August 1, 2007
Accepted on October 4, 2007

Non-Replication of the Type 5 17{beta}-Hydroxysteroid Dehydrogenase Gene Association with Polycystic Ovary Syndrome

Mark O. Goodarzi MD, PhD, Michelle R. Jones BSc, Heath J. Antoine BS, Marita Pall MD, Phd, Yii-Der I. Chen MD, MBA, MPH, and Ricardo Azziz MD, MBA, MPH*

Division of Endocrinology, Diabetes and Metabolism, Department of Medicine (M.O.G., M.R.J., H.J.A.), Department of Obstetrics and Gynecology (M.O.G., M.P., R.A.), and Medical Genetics Institute (M.O.G., Y-D.I.C.), Cedars-Sinai Medical Center, Los Angeles, California 90048; and Departments of Medicine (M.O.G., Y-D.I.C., R.A.), and Obstetrics and Gynecology (R.A.), the David Geffen School of Medicine at UCLA, Los Angeles, California 90095

* To whom correspondence should be addressed. E-mail: azzizr{at}cshs.org.

Context: Increased androgen production is a primary feature of polycystic ovary syndrome (PCOS), and appears to be an inherited trait. The gene for the steroidogenic enzyme type 5 17{beta} hydroxysteroid dehydrogenase (HSD17B5) was implicated as a candidate for the hyperandrogenemia of PCOS by a previous study that demonstrated association of a single nucleotide polymorphism (SNP) in the promoter of this gene with PCOS.

Objective: To replicate the previous report of association between the HSD17B5 gene and PCOS risk by genotyping the promoter SNP (as well as other SNPs in the region to provide improved coverage of the gene) in a large, well characterized cohort suitable for replication study.

Design: Women with and without PCOS were genotyped for 5 SNPs in HSD17B5. SNPs and haplotypes were determined and tested for association with PCOS risk and phenotypic markers of PCOS.

Setting: Subjects were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham; controls were recruited from the surrounding community. Genotyping took place at Cedars-Sinai Medical Center in Los Angeles.

Participants: 287 White women with PCOS and 187 White controls.

Main Measurements: HSD17B5 genotype, PCOS risk, testosterone levels.

Results: No SNP or haplotype was significantly associated with PCOS risk, testosterone, or any of the traits tested.

Conclusions: These data suggest that polymorphisms in the HSD17B5 gene are not associated with PCOS risk, or elevated testosterone as previously reported.
Key words: Polycystic ovary syndrome • 17{beta}-hydroxysteroid dehydrogenase • single nucleotide polymorphism • haplotype • association • replication • testosterone






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