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Association of three single nucleotide polymorphisms of the E-cadherin gene with endometriosis in a Chinese population

Department of Obstetrics and Gynecology, Fourth Hospital, Hebei Medical University, Shijiazhuang 050011, China, ¹ Department of Molecular Biology, Hebei Cancer Institute, Hebei Medical University, Jiankanglu 12, Shijiazhuang 050011, China and ² Department of Epidemiology, Hebei Cancer Institute, Shijiazhuang 050011, China

Correspondence should be addressed to Li Yan; Email: lykx1962{at}yahoo.com.cn

Endometriosis, one of the most frequent diseases in gynecology, is a benign but invasive and metastatic disease. The altered expression of E-cadherin may play an important role in developing endometriosis. In this paper, we discuss the association of three single nucleotide polymorphisms (SNPs) on the E-cadherin gene and risk of endometriosis. We examined the genotype frequency of three polymorphisms in 152 endometriosis patients and 189 control women. There was a significant difference in the frequency of the E-cadherin 3'-UTR C T genotypes between endometriosis and controls (P = 0.01). The frequency of the C allele in patients (71.1%) was significantly higher than in the controls (63.8%; P = 0.04). When compared with the T/T + T/C genotypes, the C/C genotype had a significantly increased susceptibility to endometriosis, with an adjusted odds ratio of 1.79 (95% confidence interval = 1.17–2.76). No significant difference was found between endometriosis and control women on two polymorphisms (–160 C A, –347 G GA) at the gene promoter region of E-cadherin. The –160 C A and –347 G GA polymorphisms displayed linkage disequilibrium (D' = 0.999). The –160 A/–347 GA haplotype was only detected in endometriosis patients (2%). These data show a relation between the E-cadherin 3'-UTR C T polymorphism, the –160 A/–347 GA haplotype of two promoter polymorphisms and risk of endometriosis, suggesting a potential role in endometriosis development, at least in North Chinese women.