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首页> 外文期刊>Journal of genetics >Single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 genes in the pathogenesis of polycystic ovary syndrome
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Single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 genes in the pathogenesis of polycystic ovary syndrome

机译：INS，INSR，IRS1，IRS2，PPAR-G和CAPN10基因的单核苷酸多态性在多囊卵巢综合征的发病机制中

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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 (chi (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.
机译：多囊卵巢综合征（PCOS）是最常见和复杂的雌性内分泌疾病，是女性不孕症的主要原因之一。在这里，我们旨在研究INS，INSR，IRS1，IRS2，PPAR-G和CAPN10基因在PCOS发病机制中的单核苷酸多态性的关联。在印度南部地区的169名PCOS和169名妇女上进行了一项基于医院的观察病例对照研究。基因型通过实时聚合酶链反应进行。进行Chi-Square（Chi（2））测试，验证基因型符合Hardy-Weinberg平衡。计算赔率比和95％置信区间以评估相对风险。 PCOS和对照妇女临床特征的比较揭示了体重指数（BMI）的增加，叶氏化激素/卵泡刺激激素（LH / FSH）比，葡萄糖水平，胰岛素，睾酮，HIRSUTIS和嗜睡卵泡计数。变型RS1801278（P = 0.002;或= 2.88; 95％CI = 1.43,5.80）显示与PCOS的关联。在基因型（P = 0.0002）和等位基因型号（P = 0.000）中，即使在Bonferroni校正之后也持续存在显着性。 SNP的基因型强烈影响PCOS女性BMI，LH，LH / FSH比率，卵巢体积和嗜睡卵泡计数。研究结果暗示了南印度人口南印度人口的1件IRS1和PCO之间的积极关联，而INS，IRS2，PPAR-G和CAPN10未能在我们学习的人口中显示任何与PCOS的关联。进一步的研究侧重于IRS1的作用是值得描绘其对PCOS的含义。

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