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I/D基因变异对多囊卵巢综合征患者临床参数影响的临床研究

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

作者信息

Ma Wan-di, Fan Ping, Liu Hong-Wei, Liu Qing-Qing, Hu Kai-Feng, Bai Huai, Li Sui-Yan

机构信息

College of Life Science and Engineering, Southwest Jiaotong University, Chengdu 610031, China.

Laboratory of Genetic Disease and Perinatal Medicine, West China Second University Hospital, Sichuan University, Chengdu 610041, China.

出版信息

Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Sep;52(5):877-882. doi: 10.12182/20210960207.

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 I/D single nucleotide polymorphism was in Hardy-Weinberg equilibrium in both the PCOS group and the control group (all >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 ( >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 ( <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

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.

摘要

目的

探讨血管紧张素Ⅰ转换酶(ACE)插入/缺失(I/D)基因多态性与多囊卵巢综合征(PCOS)遗传风险之间的关系,并评估ACE I/D基因型对PCOS患者临床、激素、代谢及氧化应激参数的影响。

方法

这是一项回顾性病例对照研究,共纳入2006年至2019年间就诊于四川大学华西第二医院生殖内分泌科门诊的1020例PCOS患者和825例女性对照。研究对象年龄在17至44岁之间。通过聚合酶链反应(PCR)和凝胶电泳确定ACE I/D基因型。选取667例PCOS患者和527例对照分析其基因型以及激素、代谢和氧化应激参数。

结果

I/D单核苷酸多态性的基因型分布在PCOS组和对照组中均处于Hardy-Weinberg平衡(均>0.05),具有人群代表性。PCOS组和对照组之间的基因型和等位基因频率无统计学显著差异(>0.05)。在调整年龄和体重指数(BMI)后,PCOS组或对照组中所有基因型的临床特征均无统计学显著差异。在PCOS组中,与II基因型亚组相比,ID基因型亚组的黄体生成素(LH)/卵泡刺激素(FSH)比值较低,而DD基因型亚组的胰岛素抵抗稳态模型评估(HOMA-IR)和丙二醛(MDA)水平较高。与ID基因型亚组相比,DD基因型亚组的血清性激素结合球蛋白(SHBG)水平较低,但总胆固醇(TC)和低密度脂蛋白胆固醇(LDL-C)水平较高(<0.05)。在对照组中,II基因型亚组的总氧化剂状态(TOS)水平高于DD基因型亚组。

结论

I/D基因多态性与PCOS风险无关。ACE基因的I/D变异可能与PCOS患者的胰岛素抵抗、血脂异常、高雄激素血症及氧化应激有关。

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本文引用的文献

5
Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment.多囊卵巢综合征:定义、病因、诊断与治疗。
Nat Rev Endocrinol. 2018 May;14(5):270-284. doi: 10.1038/nrendo.2018.24. Epub 2018 Mar 23.

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