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Possible involvement of the E-cadherin gene in genetic susceptibility to endometriosis
- Source :
- Human Reproduction. 27:1685-1689
- Publication Year :
- 2012
- Publisher :
- Oxford University Press (OUP), 2012.
-
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.
- Subjects :
- Adult
Oncology
medicine.medical_specialty
Genotype
Endometriosis
Single-nucleotide polymorphism
Biology
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Gene Frequency
Japan
Internal medicine
medicine
Genetic predisposition
Humans
Genetic Predisposition to Disease
Allele
Allele frequency
Gene
Rehabilitation
Obstetrics and Gynecology
Odds ratio
Cadherins
medicine.disease
Reproductive Medicine
Cancer research
Female
Gene polymorphism
Subjects
Details
- ISSN :
- 14602350 and 02681161
- Volume :
- 27
- Database :
- OpenAIRE
- Journal :
- Human Reproduction
- Accession number :
- edsair.doi.dedup.....0a23be0d0611151b9d6bfe499e872257