Autori: Hanzu FA, Radian S, Attaoua R, Ait-El-Mkadem S, Fica S, Gheorghiu M, Coculescu M, Grigorescu F.
Editorial: Elsevier, Fertil Steril. Epub 2010 May 20., 94(6), p.2389-2392, 2010.
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.
Cuvinte cheie: gena receptorului insulinic, rezistenta la insulina,sindrom metabolic,sindromul ovarului polichistic // insuline rece0ptor gene, insuline resistance, metabolic syndrome, polycystic ovary syndrome (PCOS)