Association of the 17-hydroxysteroid dehydrogenase type 5 gene polymorphism (-71A/G HSD17B5 SNP) with hyperandrogenemia in polycystic ovary syndrome (PCOS).

Abstract:

OBJECTIVE:To evaluate the association of an activating single-nucleotide polymorphism (SNP) at position -71 of the promoter of 17beta-hydroxysteroid dehydrogenase type 5 gene (-71A/G HSD17B5 SNP) and polycystic ovary syndrome (PCOS) in a well characterized cohort of caucasian PCOS women with biochemical hyperandrogenemia. DESIGN:The PCOS patients and unrelated healthy control subjects were genotyped for the -71A/G HSD17B5 SNP. The acquired genotypic data was tested for association with PCOS and other quantitative phenotypic traits of the syndrome in PCOS patients. SETTING:Subjects were recruited from the Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, at the University Hospital of Patras, Greece. Genotyping and biochemical determinations took place at the Laboratory of Molecular Endrocinology, University of Patras Medical School, Rion, Greece. PATIENT(S):Participants comprised 150 caucasian Greek PCOS women with biochemical hyperandrogenism and chronic anovulation and polycystic ovarian morphology on ultrasound and 51 healthy control subjects. MAIN OUTCOME MEASURE(S):HSD17B5 genotype, serum testosterone, serum androstenedione. RESULT(S):No association of the -71A/G HSD17B5 SNP with PCOS was detected. However, the -71G HSD17B5 variant was associated with increased serum testosterone levels and decreased androstenedione/testosterone ratio. CONCLUSION(S):The -71G HSD17B5 variant is not a major component of the molecular pathogenetic mechanisms of PCOS, although it might contribute to the severity of hyperandrogenemia in women with PCOS and biochemical hyperandrogenism.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Marioli DJ,Saltamavros AD,Vervita V,Koika V,Adonakis G,Decavalas G,Markou KB,Georgopoulos NA

doi

10.1016/j.fertnstert.2008.06.016

subject

Has Abstract

pub_date

2009-08-01 00:00:00

pages

648-52

issue

2

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(08)01310-1

journal_volume

92

pub_type

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