多囊卵巢综合征的遗传多态性

Shakir. M. S. Alfahdawi
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摘要

多囊卵巢综合征可以定义为对育龄妇女生殖系统影响最大的一种内分泌紊乱;其原因尚不清楚。然而,大多数专家认为,它是一个多因素的多因子实体。遗传学正变得越来越重要。近年来,已经确定了几个参与该综合征致病过程的基因。在这些基因中,最重要的是编码类固醇生成酶和胰岛素受体的基因,以及其他与胰岛素和促性腺激素及其受体的作用有关的激素。结果包括:1)与对照组相比,PCOS女性的脂联素水平显著降低。与对照组相比,瘦和肥胖的多囊卵巢综合征妇女的脂联素水平都明显较低。2)与对照组相比,PCOS女性的LH、FSH、LH/FSH比值和总睾酮水平显著升高。3)瘦型和肥胖型PCOS女性的LH、LH/FSH比值、总睾酮水平均显著高于对照组,而FSH水平仅在肥胖型PCOS女性中显著高于对照组。4)与对照组相比,PCOS女性的总胆固醇、甘油三酯、低密度脂蛋白胆固醇、VLDL胆固醇水平明显较高,高密度脂蛋白胆固醇水平较低。5)与对照组相比,瘦型和肥胖型PCOS女性的总胆固醇、甘油三酯、低密度脂蛋白胆固醇和VLDL胆固醇水平均显著升高。与对照组相比,只有肥胖的多囊卵巢综合征妇女的高密度脂蛋白胆固醇水平显著降低。6) FSHR基因多态性基因型分析显示,PCOS患者Ala/Thr基因型杂合子明显高于对照组(64.1%比40%)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Polymorphisms in Polycystic Ovarian Syndrome
Polycystic ovarian syndrome can be defined as an endocrine disorder that most affects the reproductive system of women of childbearing age; its causes are not exactly known. However, the majority of the experts agree that it is a multifactorial entity with multiple factors. Genetics is becoming increasingly important. In recent years, several genes that are involved in the pathogenic processes of this syndrome have been identified. Within these, the most important ones are the ones that encode steroidogenesis enzymes and insulin receptors, as well as other hormones that are associated with the actions of insulin and gonadotropins and their receptors. The results obtained included 1) women with PCOS had significantly lower levels of adiponectin compared to controls. Adiponectin levels were significantly lower in both lean and obese women with PCOS compared to the control group. 2) PCOS women had significantly higher levels of LH, FSH, LH/FSH ratio, and total testosterone compared to controls. 3) Both lean and obese PCOS women had significantly higher levels of LH, LH/FSH ratio, and total testosterone compared to the control group, however, FSH levels were significantly increased only in obese PCOS women compared to controls. 4) PCOS women had significantly higher levels of total cholesterol, triglycerides, LDL cholesterol, VLDL cholesterol, and lower levels of HDL-cholesterol compared to controls. 5) Both lean and obese PCOS women had significantly higher levels of total cholesterol, triglycerides, LDL cholesterol, and VLDL cholesterol compared to controls. Only obese PCOS women had significantly lower levels of HDL-cholesterol compared to the controls. 6) The genotype analysis of FSHR gene polymorphism showed that the heterozygote Ala/Thr genotype was significantly more frequent in PCOS patients than in controls (64.1% versus 40%).
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