1. Possible involvement of the E-cadherin gene in genetic susceptibility to endometriosis.
- Author
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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, and Tanaka, Kenichi
- Subjects
GENETICS of disease susceptibility ,CADHERINS ,ENDOMETRIOSIS ,EPITHELIAL cells ,MESENCHYMAL stem cells ,CELL migration ,CANCER invasiveness - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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