| Literature DB >> 12099691 |
Hamdi K Hamdi1, Jacob Reznik, Raquel Castellon, Shari R Atilano, John M Ong, Nitin Udar, Jeffrey H Tavis, Annette M Aoki, Anthony B Nesburn, David S Boyer, Kent W Small, Donald J Brown, M Cristina Kenney.
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. (c) 2002 Elsevier Science (USA).Entities:
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Year: 2002 PMID： 12099691 DOI： 10.1016/s0006-291x(02)00728-3
Source DB: PubMed Journal: Biochem Biophys Res Commun ISSN： 0006-291X Impact factor: 3.575