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中国女性中SMAD3和SMAD7基因多态性与压力性尿失禁易感性的关联

Association between SMAD3 and SMAD7 gene polymorphisms and susceptibility to stress urinary incontinence in Chinese women.

作者信息

Chen Wenpu, Wang Xingqiong, Yu Chengshuai, Yu Guofeng

机构信息

Department of Urology Surgery, Jinshan Branch of Shanghai Sixth People's Hospital Shanghai, China.

School of Statistics, Renmin University of China Beijing, China.

出版信息

Am J Transl Res. 2025 Feb 15;17(2):1097-1105. doi: 10.62347/LXZT1726. eCollection 2025.

Abstract

OBJECTIVE

This study aimed to investigate the correlation between single nucleotide polymorphisms (SNPs) in SMAD3 and SMAD7 genes and the genetic risk of stress urinary incontinence (SUI) in Chinese women.

METHODS

A case-control study was conducted with 117 women diagnosed with SUI and 103 healthy controls. SNPs in SMAD3 (rs28683050, rs12901499) and SMAD7 (rs12953717, rs4939827) were analyzed using polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP). Allele and genotype frequencies were assessed using the SHEsis online platform. Epidemiological, clinical, and laboratory data were collected retrospectively. SUI patients underwent pelvic floor muscle training (PFMT), and treatment outcomes were evaluated after 3 months.

RESULTS

The G allele and GG genotype of rs12901499 in SMAD3 were significantly more common in the SUI case group (p_allele < 0.001, p_genotype = 0.002). Similarly, the T allele and TT genotype at rs12953717 in SMAD7 were more frequent in the SUI case group (p_allele = 0.002, p_genotype = 0.007). Multivariate logistic regression revealed that body mass index (BMI), family history, and the rs12901499 and rs12953717 polymorphisms were significant risk factors for SUI (P < 0.05). Furthermore, the TT genotype at rs12953717 was associated with poorer PFMT treatment outcomes.

CONCLUSION

Our findings suggest that the rs12901499 and rs12953717 polymorphisms are potential risk factors for SUI in women. Additionally, the rs12953717 polymorphism may influence the effectiveness of PFMT in SUI treatment.

摘要

目的

本研究旨在探讨中国女性中SMAD3和SMAD7基因的单核苷酸多态性(SNP)与压力性尿失禁(SUI)遗传风险之间的相关性。

方法

进行了一项病例对照研究,纳入117例诊断为SUI的女性和103例健康对照。使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析SMAD3(rs28683050、rs12901499)和SMAD7(rs12953717、rs4939827)中的SNP。使用SHEsis在线平台评估等位基因和基因型频率。回顾性收集流行病学、临床和实验室数据。SUI患者接受盆底肌肉训练(PFMT),并在3个月后评估治疗效果。

结果

SMAD3中rs12901499的G等位基因和GG基因型在SUI病例组中显著更常见(p等位基因<0.001,p基因型=0.002)。同样,SMAD7中rs12953717的T等位基因和TT基因型在SUI病例组中更频繁(p等位基因=0.002,p基因型=0.007))。多因素逻辑回归显示,体重指数(BMI)、家族史以及rs12901499和rs12953717多态性是SUI的显著危险因素(P<0.05)。此外,rs12953717的TT基因型与PFMT治疗效果较差相关。

结论

我们的研究结果表明,rs12901499和rs12953717多态性是女性SUI的潜在危险因素。此外,rs12953717多态性可能影响PFMT在SUI治疗中的有效性。

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