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

Kosuke Yoshida, Kunihiko Yoshida, Kosuke Yoshihara, Sosuke Adachi, Kazufumi Haino, Kimihiro Nishino, Koji Nishino, Masayuki Yamaguchi, Munekage Yamaguchi, Nobumichi Nishikawa, Katsunori Kashima, Kohei Kashima, Tetsuro Yahata, Hiroaki Masuzaki, Hideaki Masuzaki, H. Katabuchi, Hidetaka Katabuchi, K Ikuma, Kenichiro Ikuma, Hiroshi Suginami, H. Suginami, Kenichi Tanaka
Human Reproduction · 2012 · vol. 27(6) , pp. 1685–1689 · doi:10.1093/humrep/des080 · PMID:22434855 · W2136001018
article OA: bronze CC0 ⤵ 13 in-corpus citations
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This study investigated E-cadherin gene polymorphisms in Japanese women and found a marginally higher frequency of the rs4783689 C allele in women with endometriosis.

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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.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Cadherins Endometriosis Genetic Predisposition to Disease Polymorphism, Single Nucleotide Adult Cadherins Endometriosis Female Gene Frequency Genetic Predisposition to Disease Genotype Humans Japan Polymerase Chain Reaction Polymorphism, Single Nucleotide

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