Ontology highlight
ABSTRACT: Objective
To evaluate association with polycystic ovary syndrome (PCOS) of 295 variants in 39 genes central to metabolic insulin signaling and glycogen synthase kinase 3? (GSK-3?) regulation, followed by replication efforts.Design
Case-control association study, with discovery and replication cohorts.Setting
Subjects were recruited from reproductive endocrinology clinics, and controls were recruited from communities surrounding the University of Alabama at Birmingham and Erasmus Medical Center, Rotterdam.Patient(s)
A total of 273 cases with PCOS and 173 control subjects in the discovery cohort; and 526 cases and 3,585 control subjects in the replication cohort. All subjects were caucasian.Intervention(s)
Phenotypic and genotypic assessment.Main outcome measure(s)
Detection of 295 single-nucleotide polymorphisms (SNPs), PCOS status.Result(s)
Several SNPs were associated with PCOS in the discovery cohort. Four insulin receptor (INSR) SNPs and three insulin receptor substrate 2 (IRS2) SNPs associated with PCOS were genotyped in the replication cohort. One INSR SNP (rs2252673) replicated association with PCOS. The minor allele conferred increased odds of PCOS in both cohorts, independent of body mass index.Conclusion(s)
A pathway-based tagging SNP approach allowed us to identify novel INSR SNPs associated with PCOS, one of which confirmed association in a large replication cohort.
SUBMITTER: Goodarzi MO
PROVIDER: S-EPMC3062664 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Goodarzi Mark O MO Louwers Yvonne V YV Taylor Kent D KD Jones Michelle R MR Cui Jinrui J Kwon Soonil S Chen Yii-Der I YD Guo Xiuqing X Stolk Lisette L Uitterlinden André G AG Laven Joop S E JS Azziz Ricardo R
Fertility and sterility 20110401 5
<h4>Objective</h4>To evaluate association with polycystic ovary syndrome (PCOS) of 295 variants in 39 genes central to metabolic insulin signaling and glycogen synthase kinase 3β (GSK-3β) regulation, followed by replication efforts.<h4>Design</h4>Case-control association study, with discovery and replication cohorts.<h4>Setting</h4>Subjects were recruited from reproductive endocrinology clinics, and controls were recruited from communities surrounding the University of Alabama at Birmingham and ...[more]