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ACE I/D基因变异对PCOS患者临床指标的影响

Clinical Study of the Impact of ACE I/D Gene Variation on the Clinical Parameters of Patients with Polycystic Ovary Syndrome

    摘要
  • 摘要:
      目的  探讨血管紧张素Ⅰ转换酶（angiotensin Ⅰ-converting enzyme, ACE）的基因I/D多态性与多囊卵巢综合征（polycystic ovary syndrome, PCOS）发病的遗传风险的关系，评价该基因变异对PCOS患者临床特征、激素、代谢和氧化应激指标的影响。
      方法  采用回顾性病例-对照研究，选择2006−2019年在四川大学华西第二医院生殖内分泌科门诊就诊的17～44岁PCOS患者1 020例及同期就诊的对照妇女825例纳入研究，使用聚合酶链反应（PCR）和琼脂糖凝胶电泳对ACE I/D基因进行分型。选择PCOS组667例和对照组527例进行基因型与生殖激素、糖脂代谢和氧化应激相关指标分析。
      结果  对照组与PCOS组基因型频率分布均符合Hardy-Weinberg平衡（P均>0.05），具有群体代表性。PCOS组与对照组间基因型和等位基因频率差异无统计学意义。在调整年龄和体质量指数之后，无论是在PCOS组内还是在对照组内，各基因型间临床特征差异均无统计学意义。在PCOS组中，与II基因型亚组比较，ID基因型亚组有更低的黄体生成素（luteinizing hormone, LH）/卵泡刺激素（follicle-stimulating hormone, FSH）比值，DD基因型亚组稳态模型胰岛素抵抗指数（homeostatic model assessment of insulin resistance, HOMA-IR）与血清丙二醛（malondialdehyde, MDA）水平增高；与ID基因型亚组比较，DD基因型亚组血清性激素结合球蛋白（sex hormone-binding globulin, SHBG）水平降低，但总胆固醇（total cholesterol, TC）与低密度脂蛋白胆固醇（low-density lipoprotein cholesterol, LDL-C）水平增高。在对照组中，II基因型亚组比DD基因型亚组具有更高的血清总氧化状态（total oxidant status, TOS）水平。
      结论  ACE基因I/D变异不是PCOS发生的遗传危险因素。ACE基因I/D变异可能与PCOS患者胰岛素抵抗、异常脂血症、高雄激素血症和氧化应激的发生有关。

     

    Abstract:
      Objective  To investigate the relationship between angiotensin Ⅰ-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism and the genetic risks for polycystic ovary syndrome (PCOS) and to evaluate the impact of ACE I/D genotypes on clinical, hormonal, metabolic and oxidative stress parameters in patients with PCOS.
      Methods  This was a retrospective case-control study involving a total of 1 020 PCOS patients and 825 female controls who visited the outpatient clinic of the Department of Reproductive Endocrinology, West China Second Hospital of Sichuan University between 2006 and 2019. The ages of the subjects ranged between 17 and 44. The ACE I/D genotypes were determined by polymerase chain reaction (PCR) and gel electrophoresis. 667 PCOS patients and 527 controls were selected for an analysis of their genotypes and the hormonal, metabolic and oxidative stress parameters.
      Results  The genotype distributions of the ACE I/D single nucleotide polymorphism was in Hardy-Weinberg equilibrium in both the PCOS group and the control group (all P>0.05), which was representative of the population. There were no statistically significant differences in genotype and allele frequencies between the PCOS and the control groups (P>0.05). After adjusting for both age and body mass index (BMI), there was no statistically significant difference in clinical characteristics among all genotypes in either the PCOS group or the control group. In the PCOS group, compared with the II genotype subgroup, the ID genotype subgroup had lower luteinizing hormone (LH)/follicle-stimulating hormone (FSH) ratio, while the DD genotype subgroup had higher homeostatic model assessment of insulin resistance (HOMA-IR) and malondialdehyde (MDA) levels. Compared with the ID genotype subgroup, the DD genotype subgroup had lower serum sex hormone binding globulin (SHBG) level, but higher total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels ( P<0.05). In the control group, II genotype subgroup had a higher level of total oxidant status (TOS) than that of the DD genotype subgroup.
      Conclusion  ACE I/D genetic polymorphism is not associated with risks for PCOS. The I/D variation of ACE gene may be related to insulin resistance, dyslipidaemia, hyperandrogenemia and oxidative stress in PCOS patients.

     

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