Association of insulin receptor genetic variants with polycystic ovary syndrome in a population of women from Central Europe.
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.
Hanzu
Felicia A
FA
Molecular Endocrinology Laboratory, Institut Universitaire de Recherche Clinique (IURC), Unité Mixte de Recherche (UMR) 204-204, Montpellier, France.
Radian
Serban
S
Attaoua
Redha
R
Ait-El-Mkadem
Samira
S
Fica
Simona
S
Gheorghiu
Monica
M
Coculescu
Mihai
M
Grigorescu
Florin
F
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*
D011972:Receptor, Insulin