The cuttable C-related genotype and allele for the E-cadherin 3’-UTR Pml I polymorphism are associated with higher susceptibility to endometriosis

Abstract

Epithelial cadherin (E-cadherin; CDH1) may influence pericellular proteolysis and intracellular signal transduction, which plays an essential part of tumor invasion. In our study we investigated the correlation between CDH1 gene polymorphism and endometriosis in two groups of pre-menopausal Taiwanese women, group 1 (n = 150) consisting of women with severe stage IV endometriosis and group 2 (n = 159) of women with no endometriosis. The polymerase chain reaction (PCR) was used to identify the cuttable (C) and uncuttable (T) polymorphism of the CDH1-Pml I gene (rs1801026) located on the 3'-untranslated region (3'-UTR) of chromosome 16 and compare the genotypes and allelic frequencies of this gene in both groups. We found that the genotype and allele distributions of the CDH1-Pml I C/T polymorphism were significantly different in both groups. In group 1 the CDH1*C frequency was 47.7% and the T frequency 52.3%, while the CC homozygote frequency was 6.7%, the TT homozygote 11.3% and the CT heterozygote 82%. In group 2 the CDH1*C frequency was 17% and the T frequency 83%, while the CC frequency was 0.6%, the TT 66.1% and the CT 33.3%. These data indicate that the CDH1 gene polymorphism may be associated with the development of severe endometriosis and that the CDH1 gene C allele is related to higher susceptibility to endometriosis.

Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis

“…In Caucasian women, the p.G241R polymorphism in the ICAM1 gene may influence disease severity ( Vigano et al ., 2003 ), but neither this nor the p.K469E polymorphism appear to have a direct influence on endometriosis susceptibility in either Caucasian or Japanese women ( Vigano et al ., 2003 ; Yamashita et al ., 2005 ; Kitawaki et al ., 2006 ). The PmII C/T polymorphism of the epithelial cadherin ( CDH1 ) gene was associated with late-stage endometriosis in Taiwanese women ( Hsieh et al ., 2005c ). In a Chinese study, the CDH1 3′-UTR C/T polymorphism, but not the −160C/A or −347G/GA promoter polymorphisms, was associated with endometriosis ( Shan et al ., 2007 ).…”

“…Endometriosis shows some of the characteristics typically seen in malignant cells, such as neovascularization and local invasion ( Hsieh et al ., 2005c ). Therefore, polymorphisms in a number of genes involved in vascular and cellular growth and reorganization have been investigated for a possible role in endometriosis.…”

The p21 codon 31∗C- and DRD2 codon 313∗T-related genotypes/alleles, but not XRCC1 codon 399, hOGG1 codon 326, and DRD1-48 polymorphisms, are correlated with the presence of leiomyoma

“…Regardless of their generally benign neoplastic character, uterine fibroids are responsible for significant morbidity of the female population during the reproductive years. Leiomyomas may involve a complex interventions or interactions between cell metapasia, genetic defects, DNA repair, cell stability, and angiogenesis (34). The identification of the genes for complex and polygenic disorders such as leiomyomas is difficult.…”

X-ray repair cross-complementing group 4 (XRCC4) promoter −1394∗T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter −114, polymorphisms are correlated with higher susceptibility to myoma

“…These contributions include genetic, dietary, genetic mutation, and environmental-regulating hormonal and nonhormonal conditions. Leiomyoma involves a complex intervention or interaction among cell metaplasia, genetic defect, DNA repair, cell stability, and angiogenesis (12). However, the identification of the genes for complex and polygenic disorders such as leiomyoma is difficult.…”