Results
| PMID | 22434855 |
| Gene Name | CDH1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | E-cadherin (rs4783689) |
| Population size | 1009 |
| Population details | 1009 (511 women with endometriosis (the majority in Stages III and IV), 498 healthy controls) |
| Sex | Female |
| Associated genes | E-cadherin |
| Other associated phenotypes |
Endometriosis |
|
Hum Reprod. 2012 Jun;27(6):1685-9. doi: 10.1093/humrep/des080. Epub 2012 Mar 20. 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| Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. 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. Mesh Terms: Adult| Cadherins/*genetics| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease/*genetics| Genotype| Humans| Japan| Polymerase Chain Reaction| Polymorphism, Single Nucleotide/*genetics|DA 2012/09/18 06:00 |
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