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.
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.
Authors: Kathryn G Ewens; Douglas R Stewart; Wendy Ankener; Margrit Urbanek; Jan M McAllister; Chen Chen; K Maravet Baig; Stephen C J Parker; Elliot H Margulies; Richard S Legro; Andrea Dunaif; Jerome F Strauss; Richard S Spielman Journal: J Clin Endocrinol Metab Date: 2010-03-03 Impact factor: 5.958
Authors: Michelle R Jones; Angela Chua; Yii-Der I Chen; Xiaohui Li; Ronald M Krauss; Jerome I Rotter; Richard S Legro; Ricardo Azziz; Mark O Goodarzi Journal: PLoS One Date: 2011-05-17 Impact factor: 3.240