Abstract

This study investigated whether rs2009262 EFEMP1 and rs3809060 WT1 single nucleotide polymorphisms are associated with anterior abdominal wall hernia. DNA samples were obtained from 253 patients with anterior abdominal wall hernia (60 males, 193 females, 82 patients with umbilical hernia, 171 patients with postoperative hernia) and 240 age-matched healthy controls (52 males, 188 females). Genotyping was performed by TaqMan-based PCR. Detection of associations between SNPs and hernia risk was performed by logistic regression analysis. We found that the polymorphism rs2009262 EFEMP1 is associated with decreased risk of hernia after adjustment for age and gender (OR = 0.74, 95% CI = 0.56–0.98; P = 0.034). The stratified analysis showed that rs2009262 EFEMP1 is associated with decreased risk of disease only in patients with umbilical hernia (OR = 0.57, 95% CI = 0.37–0.88; P = 0.008). Meanwhile no association between rs2009262 EFEMP1 and postoperative hernia was observed. Our study showed for the first time an association of rs2009262 EFEMP1 with lower risk of umbilical hernia in Russians.

中文翻译：

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rs2009262 EFEMP1变体与脐疝的发生有关，但与俄罗斯人的术后疝无关

摘要

这项研究调查了rs2009262 EFEMP1和rs3809060 WT1单核苷酸多态性是否与腹前壁疝相关。从253例前腹壁疝患者（男性60例，女性193例，脐疝82例，术后疝171例）和240例年龄相匹配的健康对照组（男性52例，女性188例）中获取DNA样本。基因分型是通过基于TaqMan的PCR进行的。通过Logistic回归分析检测SNP与疝气风险之间的关联。我们发现，经过年龄和性别调整后，rs2009262 EFEMP1多态性与疝风险降低相关（OR = 0.74，95％CI = 0.56-0.98；P= 0.034）。分层分析显示，rs2009262 EFEMP1仅与脐疝患者的疾病风险降低相关（OR = 0.57，95％CI = 0.37–0.88; P = 0.008）。同时，未观察到rs2009262 EFEMP1与术后疝之间的关联。我们的研究首次显示rs2009262 EFEMP1与俄罗斯人脐带疝风险较低相关。