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ZFAT基因rs1036819多态性与盆腔器官脱垂的关联:一项病例对照研究。

Association between the rs1036819 polymorphism of the ZFAT gene and pelvic organ prolapse: a case-control study.

作者信息

da Silva Rebecca Sotelo Pinheiro, Bortolini Maria A T, Teixeira Juliana B, Batista Nilce C, Fitz Fatima F, Allen-Brady Kristina, Castro Rodrigo A

机构信息

Division of Urogynecology and Reconstructive Pelvic Surgery, Department of Gynecology, Federal University of São Paulo, São Paulo, Brazil.

Hospital Federal de Ipanema - Setor de Ginecologia, Rua Antônio Parreiras, 67 - 4º andar, CEP: 22411-020, Rio de Janeiro, RJ, Brazil.

出版信息

Int Urogynecol J. 2023 Oct;34(10):2611-2617. doi: 10.1007/s00192-023-05615-0. Epub 2023 Aug 3.

Abstract

INTRODUCTION AND HYPOTHESIS

The identification of risk factors for pelvic organ prolapse (POP) would contribute to planning prevention strategies. This study tests the hypothesis that the rs1036819 polymorphism in the ZFAT gene is associated with POP and investigates other risk factors for prolapse development.

METHODS

A case-control study was carried out including 826 postmenopausal women divided into POP cases (stages III and IV) and controls (stages 0 and I), assessed by anamnesis, examination, and peripheral blood samples. DNA was extracted from blood and genotyped by real-time RT-PCR. We used logistic regression models for the association analyses of variables, with p < 0.05 for significance.

RESULTS

Five hundred and sixty-eight women were evaluated (315 POP and 253 controls). The minor allele C was found in 19.3% of our sample and the genotype frequencies of AA, AC, and CC were similar in both groups. Age (OR 1.09, 95% CI 1.06-1.13), number of pregnancies (OR 1.23, 95% CI 1.08-1.41), history of one vaginal delivery (OR 3.39, 95% CI 1.38-8.33) or two or more (OR 2.51, 95% CI 1.04-6.07), weight of the largest newborn (OR 1.0001, 95% CI 1-1.001), and family history of POP (OR 2.27, 95% CI 1.24-4.13) were independent risk factors for POP, whereas one cesarean section (OR 0.48, 95% CI 0.27-0.88) or two or more (OR 0.14, 95% CI 0.05-0.38) were protective.

CONCLUSIONS

No association was detected between the rs1036819 polymorphism of the ZFAT gene and advanced POP. Age, number of pregnancies, at least one vaginal delivery, weight of the newborn, and POP family history were independent risk factors for POP.

摘要

引言与假设

确定盆腔器官脱垂(POP)的危险因素将有助于制定预防策略。本研究检验了ZFAT基因中rs1036819多态性与POP相关的假设,并调查了脱垂发生的其他危险因素。

方法

开展了一项病例对照研究,纳入826名绝经后女性,分为POP病例组(III期和IV期)和对照组(0期和I期),通过问诊、检查和外周血样本进行评估。从血液中提取DNA,并通过实时RT-PCR进行基因分型。我们使用逻辑回归模型对变量进行关联分析,显著性水平为p < 0.05。

结果

对568名女性进行了评估(315例POP患者和253名对照)。在我们的样本中,次要等位基因C的出现频率为19.3%,两组中AA、AC和CC的基因型频率相似。年龄(比值比1.09,95%置信区间1.06 - 1.13)、妊娠次数(比值比1.23,95%置信区间1.08 - 1.41)、一次阴道分娩史(比值比3.39,95%置信区间1.38 - 8.33)或两次及以上(比值比2.51,95%置信区间1.04 - 6.07)、最大新生儿体重(比值比1.0001,95%置信区间1 - 1.001)以及POP家族史(比值比2.27,95%置信区间1.24 - 4.13)是POP的独立危险因素,而一次剖宫产(比值比0.48,95%置信区间0.27 - 0.88)或两次及以上(比值比0.14,95%置信区间0.05 - 0.38)具有保护作用。

结论

未检测到ZFAT基因的rs1036819多态性与晚期POP之间存在关联。年龄、妊娠次数、至少一次阴道分娩、新生儿体重和POP家族史是POP的独立危险因素。

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