Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome  

Oleh:

Goodarzi, Mark O. ; Taylor, Kent D. ; Jones, Michael R. ; Jinrui, Cui ; Soonil, Kwon ; Yii-Der, I. Chen ; Xiuqing, Guo ; Stolk, Lisette ; Uitterlinden, Andre G. ; Laven, Joop S.E. ; Azziz, Ricardo

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 95 no. 05 (Apr. 2011), page 1736-1741.
Topik: OVARY; PCOS; INSR; replication; SNP

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2011.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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