title: Association of insulin receptor genetic variants with polycystic ovary syndrome in a population of women from Central Europe.
abstract: To assess the role of the insulin receptor gene in polycystic ovary syndrome (PCOS) we performed a case-control study in a female population (n=226) from Central Europe by examining the genetic associations of single nucleotide polymorphisms (rs8107575, rs2245648, rs2245649, rs2963, rs2245655, and rs2962) and inferred haplotypes around exon 9 of this gene. The ancestral T allele of single nucleotide polymorphism rs2963 or the corresponding haplotype (GGTC-C) showed association with PCOS with odds ratio 2.99, 95% confidence interval 1.4-6.3, independent of obesity but related to the presence of Acanthosis nigricans and insulin resistance, metabolic syndrome, or hyperandrogeny, thus providing a frame for future fine mapping of the susceptibility loci in PCOS.
authors.affiliation: Molecular Endocrinology Laboratory, Institut Universitaire de Recherche Clinique (IURC), Unité Mixte de Recherche (UMR) 204-204, Montpellier, France.
authors.forename: Felicia A
authors.initials: FA
authors.lastname: Hanzu
authors.forename: Serban
authors.initials: S
authors.lastname: Radian
authors.forename: Redha
authors.initials: R
authors.lastname: Attaoua
authors.forename: Samira
authors.initials: S
authors.lastname: Ait-El-Mkadem
authors.forename: Simona
authors.initials: S
authors.lastname: Fica
authors.forename: Monica
authors.initials: M
authors.lastname: Gheorghiu
authors.forename: Mihai
authors.initials: M
authors.lastname: Coculescu
authors.forename: Florin
authors.initials: F
authors.lastname: Grigorescu
mesh_terms: D016022:Case-Control Studies; D005060:Europe; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D015810:Linkage Disequilibrium; D010802:Phylogeny; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011153:Population; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D011972:Receptor, Insulin