Ning Xu1, Kent D Taylor, Ricardo Azziz, Mark O Goodarzi. 1. Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
Abstract
OBJECTIVE: To study the role of genetic variation in the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase (HMGCR) gene in polycystic ovary syndrome (PCOS). DESIGN: Women with and without PCOS were genotyped for seven single-nucleotide polymorphisms (SNPs) in HMGCR. The SNPs and haplotypes were determined and tested for association with PCOS and its component traits. SETTING: Subjects were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham; control subjects were recruited from the surrounding community. Genotyping took place at Cedars-Sinai Medical Center in Los Angeles. PATIENT(S): A total of 287 white PCOS women and 187 control subjects were studied. INTERVENTION(S): Phenotypic and genotypic assessment. MAIN OUTCOME MEASURE(S): HMGCR genotype, PCOS diagnosis, androgen levels, metabolic traits. RESULT(S): No association with PCOS was observed. SNP rs4629571 was associated with increased insulin resistance. Haplotype 3 was associated with increased insulin resistance. Haplotype 5 was associated with higher SHBG and lower free T. CONCLUSION(S): Variation in the HMGCR gene may influence component features of PCOS, including insulin resistance, SHBG, and free T. HMGCR may thus act as a modifier gene in PCOS. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
OBJECTIVE: To study the role of genetic variation in the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase (HMGCR) gene in polycystic ovary syndrome (PCOS). DESIGN:Women with and without PCOS were genotyped for seven single-nucleotide polymorphisms (SNPs) in HMGCR. The SNPs and haplotypes were determined and tested for association with PCOS and its component traits. SETTING: Subjects were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham; control subjects were recruited from the surrounding community. Genotyping took place at Cedars-Sinai Medical Center in Los Angeles. PATIENT(S): A total of 287 white PCOSwomen and 187 control subjects were studied. INTERVENTION(S): Phenotypic and genotypic assessment. MAIN OUTCOME MEASURE(S): HMGCR genotype, PCOS diagnosis, androgen levels, metabolic traits. RESULT(S): No association with PCOS was observed. SNP rs4629571 was associated with increased insulin resistance. Haplotype 3 was associated with increased insulin resistance. Haplotype 5 was associated with higher SHBG and lower free T. CONCLUSION(S): Variation in the HMGCR gene may influence component features of PCOS, including insulin resistance, SHBG, and free T. HMGCR may thus act as a modifier gene in PCOS. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Authors: Mark O Goodarzi; Xiuqing Guo; Kent D Taylor; Manuel J Quiñones; Carlos Samayoa; Huiying Yang; Mohammad F Saad; Aarno Palotie; Ronald M Krauss; Willa A Hsueh; Jerome I Rotter Journal: Genet Med Date: 2003 Jul-Aug Impact factor: 8.822
Authors: Leslee J Shaw; C Noel Bairey Merz; Ricardo Azziz; Frank Z Stanczyk; George Sopko; Glenn D Braunstein; Sheryl F Kelsey; Kevin E Kip; Rhonda M Cooper-Dehoff; B Delia Johnson; Viola Vaccarino; Steven E Reis; Vera Bittner; T Keta Hodgson; William Rogers; Carl J Pepine Journal: J Clin Endocrinol Metab Date: 2008-01-08 Impact factor: 5.958
Authors: Mark O Goodarzi; Stephen Erickson; Sidney C Port; Robert I Jennrich; Stanley G Korenman Journal: Metabolism Date: 2003-06 Impact factor: 8.694