Anda belum login :: 29 Jun 2022 11:47 WIB
Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome
Goodarzi, Mark O.
Taylor, Kent D.
Jones, Michael R.
Yii-Der, I. Chen
Uitterlinden, Andre G.
Laven, Joop S.E.
Article from Journal - ilmiah internasional
Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 95 no. 05 (Apr. 2011)
1 (dapat dipinjam: 0)
Lihat Detail Induk
Objective To evaluate association with polycystic ovary syndrome (PCOS) of 295 variants in 39 genes central to metabolic insulin signaling and glycogen synthase kinase 3ß (GSK-3ß) 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.
Klik untuk menuliskan opini Anda tentang koleksi ini!
Copyright © 2006, 2007
Unika Atma Jaya
, all rights reserved
Process time: 0.015625 second(s)