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

Research output: Contribution to journalArticle

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Abstract

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
Volume86
Issue number5
DOIs
Publication statusPublished - 2006

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Polycystic Ovary Syndrome
Androgens
Single Nucleotide Polymorphism
Body Mass Index
Alleles
Phenotype
National Institutes of Health (U.S.)
Genes
Insulin Resistance
Case-Control Studies
Fasting
Homeostasis
Outcome Assessment (Health Care)
Databases
Insulin
Glucose

Cite this

@article{717e2304dee145f2b8b8c440f037dec8,
title = "Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome",
abstract = "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.",
author = "M.R. Jones and L. Italiano and S.G. Wilson and B.H. Mullin and R. Mead and F. Dudbridge and Gerald Watts and Bronwyn Stuckey",
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Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome. / Jones, M.R.; Italiano, L.; Wilson, S.G.; Mullin, B.H.; Mead, R.; Dudbridge, F.; Watts, Gerald; Stuckey, Bronwyn.

In: Fertility and Sterility, Vol. 86, No. 5, 2006, p. 1438-1446.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome

AU - Jones, M.R.

AU - Italiano, L.

AU - Wilson, S.G.

AU - Mullin, B.H.

AU - Mead, R.

AU - Dudbridge, F.

AU - Watts, Gerald

AU - Stuckey, Bronwyn

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

U2 - 10.1016/j.fertnstert.2006.04.027

DO - 10.1016/j.fertnstert.2006.04.027

M3 - Article

VL - 86

SP - 1438

EP - 1446

JO - Ferility and Sterility

JF - Ferility and Sterility

SN - 0015-0282

IS - 5

ER -