Association of common variations of the E-cadherin with endometriosis

Abstract

Endometriosis is a polygenic and multifactorial disease. E-cadherin (CDH1) gene encodes an epithelial cell–cell adhesion glycoprotein that modulates a wide variety of processes, including cell polarization, migration and cancer metastasis. Decreased expression of CDH1 in epithelial cells in peritoneal endometriosis has been reported in advanced stages of endometriotic lesions. We investigated the CDH1 −160C/A and +54C/T variations with susceptibility to endometriosis in an Iranian population. In this case-control study, 149 patients with endometriosis (stages I–IV) and 151 healthy women as controls were included. Genotyping was performed using PCR-RFLP method. A p value of <0.05 was considered statistically significant. The CDH1 + 54TT genotype was significantly lower (p = 0.012; OR = 0.30, 95% CI: 0.12–0.77) in the patients (11.6%) than the control group (26.7%). The CDH1 + 54T allele was significantly lower (p = 0.001; OR = 0.55, 95% CI: 0.38–0.77) in the cases (35.7%) compared with the control group (50.3%). No association was found between CDH1 − 160C/A polymorphism and endometriosis. The CDH1 +54C/T was associated with susceptibility to endometriosis in Iranian population, and +54T allele may have a protective role in progression of endometriosis.

Chinese abstract

子宫内膜异位症是一种多基因、多因素的疾病。钙黏蛋白(CDH1)基因编码一种上皮细胞间的粘着糖蛋白，该粘着糖蛋白调节包括细胞极化、迁移及癌症转移在内的多种进程。腹膜型子宫内膜异位的上皮细胞CDH1基因的表达下调已经在子宫内膜异位症的晚期阶段病变报道过。我们在一个伊朗人群中研究了CDH1 -160C/A和+54C/T变异对于子宫内膜异位症的易感性。这个病例对照研究对象包括149名子宫内膜异位症（分期I-IV）患者和151名作为对照的健康女性。通过限制性片段长度多态性分析技术（PCR-RFLP）进行基因分型。P<0.05被认为有统计学意义。子宫内膜异位症患者(11.6%)的CDH1 + 54TT基因型与正常对照组(26.7%)相比显著减少(p=0.012；OR=0.30，95% CI：0.12–0.77)。与对照组(50.3%)相比，病例组(35.7%)的CDH1 + 54T的等位基因明显减少（p=0.001；OR=0.55，95% CI：0.38–0.77) 。尚未发现 CDH1的-160C/A多态性和子宫内膜异位症之间的相关性。而在伊朗群体中 CDH1 +54C/T与子宫内膜异位症的发病相关。同时+54T的等位基因可能在子宫内膜异位症的发展进程中起到保护作用。

• Association study
• E-cadherin
• endometriosis
• polymorphism

Acknowledgements

We would like to thank all the participants in this study.

Declaration of interest

The authors report no conflicts of interest. This work was supported by the Avicenna Research Institute, Tehran, Iran (Project No: 890103-010).