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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