Pak J Biol Sci. 2024 Oct;27(11):526-536. doi: 10.3923/pjbs.2024.526.536.
<b>Background and Objective:</b> Polycystic Ovarian Syndrome (PCOS) is a hormonal abnormality that influences the age during reproduction. This investigation aimed to identify the impact of insulin receptor-encoding genes (NsiI and PmLI) on the development of PCOS and their effect on insulin and HOMA-IR levels. <b>Materials and Methods:</b> The study included 80 patients and 25 healthy individuals. The concentrations of HOMA-IR, fasting blood sugar and fasting insulin hormone were determined. The PCR-RFLP was applied to identify insulin receptors in the NsiI and PmLI SNPs. Sanger sequencing was used for each of these patients. The study data were analyzed using SPSS version 16.0 and using χ<sup>2</sup> test p<0.05 was considered statistically significant. Also, Hardy-Weinberg equilibrium for genotype frequencies was used. <b>Results:</b> The HOMA-IR and mean insulin levels significantly differed between the control subjects and PCOS females ("p = 0.002 and "p = 0.000, correspondingly). Concerning the odds ratio and their NsiI frequency polymorphisms in the heterozygote genotype A/G and homozygote mutant G/G groups were greater in PCOS than control individual (OR = 1.14, p>0.05) (OR = 5.20, p>0.05). However, for the PmLI polymorphism, CC and TT were linked with pathogenic effects for PCOS susceptibility (OR = 1.83, p>0.05) (OR = 12.07, p>0.05) and CT was a protective factor (OR = 0.22, p<0.05). <b>Conclusion:</b> A strong relationship between high levels of hormone insulin as well as elevated HOMA-IR has been found in women with PCOS. Furthermore, INSR gene polymorphisms may be a molecular marker associated with decreased insulin sensitivity in women with PCOS.
<b>背景与目的:</b>多囊卵巢综合征(PCOS)是一种影响生殖年龄的激素异常。本研究旨在确定胰岛素受体编码基因(NsiI 和 PmLI)对 PCOS 发展的影响及其对胰岛素和 HOMA-IR 水平的影响。<b>材料与方法:</b>该研究纳入了 80 名患者和 25 名健康个体。测定了 HOMA-IR、空腹血糖和空腹胰岛素激素的浓度。应用 PCR-RFLP 鉴定胰岛素受体在 NsiI 和 PmLI SNPs 中的情况。对每位患者均进行 Sanger 测序。使用 SPSS 版本 16.0 分析研究数据,并使用 χ<sup>2</sup>检验,p<0.05 为具有统计学意义。此外,还使用 Hardy-Weinberg 平衡检验基因型频率。<b>结果:</b>与对照组女性相比,PCOS 女性的 HOMA-IR 和平均胰岛素水平差异显著(“p = 0.002 和“p = 0.000)。关于 NsiI 频率多态性的优势比及其杂合子基因型 A/G 和纯合子突变 G/G 组在 PCOS 中高于对照组个体(OR = 1.14,p>0.05)(OR = 5.20,p>0.05)。然而,对于 PmLI 多态性,CC 和 TT 与 PCOS 易感性的致病性有关(OR = 1.83,p>0.05)(OR = 12.07,p>0.05),而 CT 是一种保护因素(OR = 0.22,p<0.05)。<b>结论:</b>在 PCOS 女性中发现了高水平的激素胰岛素和升高的 HOMA-IR 之间存在很强的相关性。此外,INSR 基因多态性可能是与 PCOS 女性胰岛素敏感性降低相关的分子标志物。