No consistent evidence emerged of a strong association between the risk of PCOS and any known gene that is related to insulin signaling and glucose homeostasis. Moreover, recent genome-wide association studies are inconsistent in identifying the associations between PCOS and insulin metabolism genes. Many of the studies reviewed were limited by heterogeneity in the PCOS diagnosis and by not have having a sufficient number of study participants. Further studies are warranted to determine predisposing risk factors which could modify environmental factors and thus reduce the risk of PCOS. Large genome-wide association studies devoted solely to PCOS will be necessary to identify new candidate genes and proteins that are involved in PCOS risk.
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) 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.
Maheswari, et al.: A Case-controlled Comparative Study on Polycystic Ovary SyndromeThe objective of this study was to evaluate and compare the clinical, biochemical, hormonal and gynaecological aspects of polycystic ovary syndrome at a hospital in South India. The observational, case-controlled study was conducted from April 2011 to January 2014 and recruited 192 polycystic ovary syndrome patients and 205 normal women. Clinical history and biochemical and hormonal analysis were carried out. Correlation was tested between testosterone and other clinical findings. Variables were further analysed using logistic regression with adjusted odds ratio with a 95% confidence interval. About 16% of polycystic ovary syndrome women were obese and 91% reported to have an increased waist/hip ratio. Oligomenorrhea was observed in 74% women with polycystic ovary syndrome. The tested variables revealed that body mass index, waist/hip ratio, hirsutism, testosterone, insulin, ovarian volume and follicular count were elevated in polycystic ovary syndrome patients compared to the control subjects. Increased testosterone levels correlated positively with luteinizing hormone/follicle-stimulating hormone ratio (p=0.023), hirsutism (p=0.001) and antral follicular count (p=0.004) in polycystic ovary syndrome patients in the studied population. Waist/hip ratio could possibly be a better risk indicator than body mass index. Increased testosterone levels, ovarian volume and antral follicular count or combination of these have been considered to be risk factors in developing polycystic ovary syndrome patients.
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