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细胞色素P450 17α-羟化酶/17,20-裂解酶1基因(CYP17A1)rs743572多态性可能与子宫内膜异位症易感性有关:一项病例对照研究的证据

CYP17A1 rs743572 polymorphism might contribute to endometriosis susceptibility: evidences from a case-control study.

作者信息

Cong Lili, Fu Qiang, Gao Tianming

机构信息

Department of Gynaecology and Obstetrics, Affiliated Zhongshan Hospital of Dalian University, Dalian, Liaoning, China..

出版信息

Medicine (Baltimore). 2018 Jul;97(28):e11415. doi: 10.1097/MD.0000000000011415.

Abstract

This case-control study was aimed to evaluate the influence of cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene rs743572 polymorphism for the susceptibility to endometriosis.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype rs743572 polymorphism in 143 endometriosis patients and 148 healthy controls. Hardy-Weinberg equilibrium (HWE) test was utilized to detect the representativeness of the study subjects. Association strength was presented by odds ratios (ORs) with corresponding 95% confidence intervals (CIs).Genotype distribution of rs743572 polymorphism was conformed to HWE test both in case and control groups, revealing the good representativeness of our study subjects. Significantly positive association was discovered between rs743572 TT genotype and endometriosis susceptibility (P = .042, OR = 1.952, 95% CI = 1.020-3.736). Rs743572 T allele was more frequently discovered in cases than that in controls, revealing the enhanced susceptibility to endometriosis (P = .041, OR = 1.407, 95% CI = 1.014-1.951). Confounding factors (age and body mass index) were utilized to adjust the results, and then we found that the association strength had no significant changes (TT vs CC, P = .039, OR = 1.961, 95% CI = 1.023-3.742; T vs C, P = .038, OR = 1.413, 95% CI = 1.016-1.957). But we failed to find any obvious association of rs743572 genotypes with endometriosis stages and characteristics.T allele of rs743572 polymorphism might act as a risk factor for endometriosis, although it had no effects on the disease stages and basic features.

摘要

本病例对照研究旨在评估细胞色素P450家族17亚家族A成员1(CYP17A1)基因rs743572多态性对子宫内膜异位症易感性的影响。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对143例子宫内膜异位症患者和148例健康对照者的rs743572多态性进行基因分型。利用哈迪-温伯格平衡(HWE)检验来检测研究对象的代表性。关联强度用比值比(OR)及相应的95%置信区间(CI)表示。rs743572多态性的基因型分布在病例组和对照组中均符合HWE检验,表明我们的研究对象具有良好的代表性。发现rs743572 TT基因型与子宫内膜异位症易感性之间存在显著正相关(P = 0.042,OR = 1.952,95% CI = 1.020 - 3.736)。rs743572 T等位基因在病例组中的发现频率高于对照组,表明子宫内膜异位症易感性增强(P = 0.041,OR = 1.407,95% CI = 1.014 - 1.951)。利用混杂因素(年龄和体重指数)对结果进行调整后,我们发现关联强度无显著变化(TT与CC相比,P = 0.039,OR = 1.961,95% CI = 1.023 - 3.742;T与C相比,P = 0.038,OR = 1.413,95% CI = 1.016 - 1.957)。但我们未发现rs743572基因型与子宫内膜异位症分期及特征之间存在任何明显关联。rs743572多态性的T等位基因可能是子宫内膜异位症的一个危险因素,尽管它对疾病分期和基本特征没有影响。

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Social psychogenic stress promotes the development of endometriosis in mouse.社会心理性应激促进小鼠子宫内膜异位症的发展。
Reprod Biomed Online. 2017 Mar;34(3):225-239. doi: 10.1016/j.rbmo.2016.11.012. Epub 2016 Dec 16.
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