title: Single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 genes in the pathogenesis of polycystic ovary syndrome.
abstract: Polycystic ovary syndrome (PCOS) is the most common and a complex female endocrine disorder, and is one of the leading cause of female infertility. Here, we aimed to investigate the association of single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 gene in the pathogenesis of PCOS. A hospital-based, observational case-control study was carried on 169 PCOS and 169 control women in the southern region of India. Genotype was carried out by real-time polymerase chain reaction. A chi-square (χ2) test was performed and the genotypes were verified to comply with the Hardy- Weinberg equilibrium. Odds ratio and 95% confidence interval were calculated to assess the relative risk. Comparison of clinical characteristics of women with PCOS and controls reveal an increase in body mass index (BMI), luteinizing hormone / follicle stimulating hormone (LH/FSH) ratio, glucose levels, insulin, testosterone, hirsutism and antral follicular count in PCOS women. The variant rs1801278 (P = 0.002; OR = 2.88; 95% CI = 1.43, 5.80) show an association with PCOS. In the genotypic (P = 0.0002) and allelic models (P = 0.000), significance persisted even after Bonferroni correction. The genotypes of SNPs strongly influence BMI, LH, LH/FSH ratio, ovarian volume and antral follicular count in PCOS women. The study results were suggestive of a positive association between Gly972Arg of IRS1 and PCOS in the south Indian population, while INS, IRS2, PPAR-G and CAPN10 failed to show any association with PCOS in our studied population. Further studies focussing the role of IRS1 are warranted to delineate its implication towards PCOS.
authors.affiliation: Faculty of Biomedical Sciences, Sri Ramachandra University, Chennai 600 116, India. maddalyravi@hotmail.com.
authors.forename: Maheswari
authors.initials: M
authors.lastname: Thangavelu
authors.forename: Usha Rani
authors.initials: UR
authors.lastname: Godla
authors.forename: F D
authors.initials: FD
authors.lastname: Paul Solomon
authors.forename: Ravi
authors.initials: R
authors.lastname: Maddaly
mesh_terms: D000328:Adult; D000483:Alleles; D015415:Biomarkers; D002154:Calpain / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007328:Insulin / Q000235:genetics*; D055504:Insulin Receptor Substrate Proteins / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D047495:PPAR gamma / Q000235:genetics*; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011972:Receptor, Insulin / Q000235:genetics*; D055815:Young Adult
chemical_list: D015415:Biomarkers; C526292:IRS1 protein, human; C526297:IRS2 protein, human; D007328:Insulin; D055504:Insulin Receptor Substrate Proteins; D047495:PPAR gamma; D011972:Receptor, Insulin; D002154:Calpain; C415197:calpain 10