Single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 genes in the pathogenesis of polycystic ovary syndrome

• Published in: Journal of genetics 2017-03, Vol.96 (1), p.87-96
• Main Authors: THANGAVELU, MAHESWARI, GODLA, USHA RANI, PAUL, SOLOMON F. D., MADDALY, RAVI
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Animal Genetics and Genomics; Biomarkers; Biomedical and Life Sciences; Body mass index; Calpain - genetics; Case-Control Studies; Diabetes; Evolutionary Biology; Female; Gene Frequency; Genes; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Infertility; Insulin - genetics; Insulin Receptor Substrate Proteins - genetics; Insulin resistance; Kinases; Life Sciences; Luteinizing hormone; Microbial Genetics and Genomics; Middle Aged; Odds Ratio; Ovaries; Pathogenesis; Phenotype; Plant Genetics and Genomics; Polycystic ovary syndrome; Polycystic Ovary Syndrome - blood; Polycystic Ovary Syndrome - genetics; Polymerase chain reaction; Polymorphism; Polymorphism, Single Nucleotide; PPAR gamma - genetics; Receptor, Insulin - genetics; Research Article; Signal transduction; Single nucleotide polymorphisms; Stein-Leventhal syndrome; Young Adult
• ISSN: 0022-1333; 0973-7731
• DOI: 10.1007/s12041-017-0749-z

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 ( χ 2 ) 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.