Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 26484421
Gene Name CDH1
Condition Endometriosis
Association Associated
Mutation CDH1 (-160C/A polymorphism, +54C/T)
Population size 300
Population details 300 (149 patients with endometriosis (stages I-IV), 151 healthy women as controls)
Sex Female
Other associated phenotypes Endometriosis
Association of common variations of the E-cadherin with endometriosis.

Gynecol Endocrinol. 2015;31(11):899-902. doi: 10.3109/09513590.2015.1101436. Epub

Saliminejad, Kioomars| Edalatkhah, Haleh| Kamali, Koorosh| Memariani, Toktam| Nasiri, Mahbobeh| Saket, Mitra| Khorram Khorshid, Hamid Reza

a Reproductive Biotechnology Research Center, Avicenna Research Institute , ACECR , Tehran , Iran .| a Reproductive Biotechnology Research Center, Avicenna Research Institute , ACECR , Tehran , Iran .| a Reproductive Biotechnology Research Center, Avi

Endometriosis is a polygenic and multifactorial disease. E-cadherin (CDH1) gene encodes an epithelial cell-cell adhesion glycoprotein that modulates a wide variety of processes, including cell polarization, migration and cancer metastasis. Decreased expression of CDH1 in epithelial cells in peritoneal endometriosis has been reported in advanced stages of endometriotic lesions. We investigated the CDH1 -160C/A and +54C/T variations with susceptibility to endometriosis in an Iranian population. In this case-control study, 149 patients with endometriosis (stages I-IV) and 151 healthy women as controls were included. Genotyping was performed using PCR-RFLP method. A p value of <0.05 was considered statistically significant. The CDH1 + 54TT genotype was significantly lower (p = 0.012; OR = 0.30, 95% CI: 0.12-0.77) in the patients (11.6%) than the control group (26.7%). The CDH1 + 54T allele was significantly lower (p = 0.001; OR = 0.55, 95% CI: 0.38-0.77) in the cases (35.7%) compared with the control group (50.3%). No association was found between CDH1 - 160C/A polymorphism and endometriosis. The CDH1 +54C/T was associated with susceptibility to endometriosis in Iranian population, and +54T allele may have a protective role in progression of endometriosis.

Mesh Terms: Adult| Alleles| Cadherins/*genetics| Case-Control Studies| Endometriosis/*genetics| Female| Genetic Predisposition to Disease| Genotype| Humans| Iran| Polymerase Chain Reaction| Polymorphism, Genetic| Polymorphism, Restriction Fragment Length|