Association of E-Cadherin Gene 3’-UTR C/T Polymorphism with Primary Open Angle Glaucoma

Abstract

Purpose: E-cadherin (E-CDH) is one of the most important cell surface glycoproteins involved in cell morphogenesis. In primary open angle glaucoma (POAG), the extracellular matrixes of trabecular meshwork and lamina cribrosa in the optic nerve head are out of balance. We suspected that E-CDH by way of metalloproteinases is closely related to POAG. We therefore investigated the relationship between CDH-1 gene 3′ untranslated region (3′-UTR) polymorphism and POAG patients in order to support this hypothesis. Patients and Methods: We enrolled 60 POAG patients and 103 healthy volunteers from the Department of Ophthalmology at the China Medical University Hospital, Taichung, Taiwain, ROC. None of the control subjects had a history of eye disease and all underwent the same examination as the POAG patients. PCR-based analysis of the restriction fragment length polymorphism was used to test the CDH-1 gene 3′-UTR polymorphism. All statistical analyses were performed by the χ² test. Result: There was a significant difference in the distribution of the CDH-1 gene 3′-UTR C/T polymorphism between POAG patients and the normal controls (p <0.000). The odds ratio of the ‘C’ allele was al so significantly different between both groups (odds ratio = 5.510, 95% confidence interval = 3.171–9.574). Conclusion: CDH-1 is closely related to metalloproteinase and plays an important but not well-understood role in the onset and progression of POAG. The exact role of CDH-1 in POAG could be resolved by the posttranslated products of the gene and the protein-protein interaction of the gene products in the future.

Association of Polymorphisms of Tumor Necrosis Factor and Tumor Protein p53 with Primary Open-Angle Glaucoma

“…For rs1801026, whereas the allele T frequency was similar in POAG patients, in control subjects, it was much lower in our study (17.4%) than in the original study (52.4%). 20 However, our results in control subjects are very close to statistics in the dbSNP database for Asians (16.7%). As for rs1801270, association with POAG had not been replicated in two studies of Caucasians.…”

Association of three single nucleotide polymorphisms of the E-cadherin gene with endometriosis in a Chinese population

“…Although the function of the 3 0 -UTR C54 C/T polymorphism was unclear, studies have showed that this polymorphism was associated with cancer and other diseases (Tsai et al 2003, Wu et al 2005, Lin et al 2006. Wu et al found that the 'CC' homozygote indicates a relatively higher risk for developing prostate cancer than other genotypes (Lin et al 2006).…”

“…Although the function of the 3 0 -UTR C54 C/T polymorphism was unclear, studies have showed that this polymorphism was associated with cancer and other diseases (Tsai et al 2003, Wu et al 2005, Lin et al 2006. Wu et al found that the 'CC' homozygote indicates a relatively higher risk for developing prostate cancer than other genotypes (Lin et al 2006). Our study also showed that the frequency of the 'CC' homozygote in endometriosis patients (57.9%) was higher than that in controls (43.4%) and the 'CC' homozygote carriers had a higher incidence of developing endometriosis (1.79-fold) than those who do not.…”

Genetic polymorphism in the 3′‐untranslated region of the E‐cadherin gene is associated with risk of different cancers

“…T SNP (rs1801026) at nucleotide 2797 of the CDH1 cDNA is located 54 nucleotides downstream from the TAG stop codon [12] and are associated with risk of prostate cancer and primary open angle glaucoma, but these studies did not examine a large cohort of individuals [12,13]. Our previous study, using a large cohort of samples showed the 3 0 -UTR þ54C/T polymorphism of CDH1 was associated with the epithelial ovarian cancer and endometriosis development in Chinese Abbreviations: PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; ESCC, esophageal squamous cell carcinoma; GCA, gastric cardiac adenocarcinoma; NSCLC, nonsmall-cell lung cancer; CDH1, E-cadherin gene; SNP, single-nucleotide polymorphisms; TNM, tumor-node-metastasis; FIGO, International Federation of Gynecology and Obstetrics.…”