Possible involvement of the E-cadherin gene in genetic susceptibility to endometriosis

Author： Yoshida Kunihiko Yoshihara Kosuke Adachi Sosuke Haino Kazufumi Nishino Koji Yamaguchi Masayuki Nishikawa Nobumichi Kashima Katsunori Yahata Tetsuro Masuzaki Hideaki Katabuchi Hidetaka Ikuma Kenichiro Suginami Hiroshi Tanaka Kenichi

Publisher： Oxford University Press

ISSN： 1460-2350

Source： Human Reproduction, Vol.27, Iss.6, 2012-06, pp. : 1685-1689

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

BACKGROUND Endometriotic cells display invasive characteristics, despite their benign histological appearance. Recently, the epithelial–mesenchymal transition, in which epithelial cells acquire mesenchymal and migratory properties, has attracted attention as a mechanism of tumor invasion. We aimed to investigate the association between endometriosis and polymorphisms of the E-cadherin gene, a central player in the epithelial–mesenchymal transition, in Japanese women. METHODS Twelve single-nucleotide polymorphisms (SNPs) in the E-cadherin gene were identified by real-time polymerase chain reaction using a TaqMan assay in 511 women with endometriosis (the majority in Stages III and IV) and 498 healthy controls. RESULTS Allele frequency analysis indicated that there was a marginally higher frequency of the rs4783689 C allele in women with endometriosis compared with controls (corrected P = 0.007; odds ratio = 1.37; 95% confidence interval, 1.14–1.64). No significant associations with endometriosis were found for the other 11 SNPs. CONCLUSIONS Although this study was limited by sample size, the E-cadherin gene polymorphism rs4783689 was marginally associated with endometriosis in the Japanese population, suggesting that E-cadherin might be involved in genetic susceptibility to endometriosis.