Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration |
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Authors: | Hamdi Hamdi K Reznik Jacob Castellon Raquel Atilano Shari R Ong John M Udar Nitin Tavis Jeffrey H Aoki Annette M Nesburn Anthony B Boyer David S Small Kent W Brown Donald J Kenney M Cristina |
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Institution: | Department of Surgery, Ophthalmology Research Laboratories, Burns and Allen Research Institute, Cedars-Sinai Medical Center, UCLA Medical School Affiliate, 90048, USA. hkhamdi@aol.com |
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Abstract: | Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly. We report an association between an Alu polymorphism in the angiotensin-converting enzyme (ACE) gene with the dry/atrophic form of AMD. Using the polymerase chain reaction (PCR) on genomic DNA isolated from patients with AMD (n=173), and an age-matched control population (n=189), we amplified a region polymorphic for an Alu element insertion in the ACE gene. The Alu(+/+) genotype occurred 4.5 times more frequently in the control population than the dry/atrophic AMD patient population, (p=0.004). The predominance of the Alu(+/+) genotype within the unaffected control group represents a protective insertion with respect to the human ocular disease, dry/atrophic AMD. This is the first demonstration of an Alu element insertion exerting protective effects against a known human disease. |
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Keywords: | Alu sequences Polymorphism ACE TPA AMD |
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