The rs2165241 polymorphism of the Loxl1 gene in postmenopausal women with pelvic organ prolapse

Abstract

Objective

This study aimed to verify the presence of polymorphism rs2165241 of the lysyl oxidase-like 1 (Loxl1) gene and its association with pelvic organ prolapse (POP) in Brazilian women and determine risk factors for POP development.

Methods

The study was previously approved by the local research and ethics board. Postmenopausal women were included and divided into POP (stages III and IV) and control (stages 0 and I) groups. Peripheral blood samples were collected, and the DNA sequence of interest was analyzed by real-time reverse-transcriptase polymerase chain reaction. We used logistic regression and considered a recessive model of inheritance for the analysis, with p < 0.05 for significance.

Results

A total of 836 women were assessed: 426 POP cases and 410 controls. The frequencies of CC, CT and TT genotypes were similar in both groups. Age (odds ratio [OR] = 1.1, 95% confidence interval [CI] = 1.07; 1.14), number of vaginal births (OR = 17.06, 95% CI = 5.94; 48.97), family history (OR = 2.87, 95% CI = 1.57; 5.22) and weight of largest newborn (OR = 1.001, 95% CI = 1.0003; 1.001) were independent risk factors for POP, while multiple cesarean sections (two or more) was protective (OR = 0.17, 95% CI = 0.07; 0.42).

Conclusion

No association was detected between rs2165241 of the Loxl1 gene and POP.

摘要

目的：本研究旨在验证赖氨酰氧化酶样1（Loxl1）基因多态性rs2165241的存在及其与巴西女性盆腔器官脱垂（POP）的相关性, 并确定POP发生的危险因素。

方法：该研究之前已获得当地研究和伦理委员会的批准。绝经后妇女被纳入研究, 并分为POP组（III和IV期）和对照组（0和I期）。采集外周血样本, 并通过实时逆转录聚合酶链反应分析相关DNA序列。我们使用logistic回归分析, 并考虑隐性遗传模型进行分析, p<0.05有统计学意义。

结果：共对836名女性进行了评估：426例POP病例和410名对照。两组中CC、CT和TT基因型的频率相似。年龄（优势比[OR]＝1.1, 95%可信区间[CI]＝1.07；1.14）, 阴道分娩次数（OR＝17.06, 95%可信区间＝5.94；48.97）, 家族史（OR＝2.87, 95%可信区间＝1.57；5.22）和最大新生儿体重（OR＝1.001, 95%可信区间＝1.0003；1.001）是POP的独立危险因素, 而多次剖宫产（两次或两次以上）具有保护作用（OR＝0.17, 95%可信区间＝0.07；0.42）。

结论：Loxl1基因的rs2165241与POP之间未检测到关联性。

Keywords:

• Pelvic organ prolapse
• polymorphism
• elastin
• elastic fibers
• lysyl oxidase-like 1
• extracellular matrix

Acknowledgements

The authors thank the patients for their participation.

Potential conflicts of interest

No potential conflict of interest was reported by the authors.

Source of funding

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Fundação de Amparo à Pesquisa do Estado de são Paulo (FAPESP); Núcleo de Estudos, Pesquisa e Assessoria à Saúde (NEPAS).

Additional information

Funding

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Fundação de Amparo à Pesquisa do Estado de são Paulo (FAPESP); Núcleo de Estudos, Pesquisa e Assessoria à Saúde (NEPAS).