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Abstract #13540 Published in IGR 8-1
Association of E-cadherin gene 3'-UTR C/T polymorphism with primary open angle glaucoma
Lin HJ; Tsai FJ; Hung P; Chen WC; Chen HY; Fan SS; Tsai SWOphthalmic Research 2006; 38: 44-48
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, Taiwan, 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 chi2 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.
Dr. H.J. Lin, Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan, ROC
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
