title: Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration.
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.
authors.affiliation: Department of Surgery, Ophthalmology Research Laboratories, Burns and Allen Research Institute, Cedars-Sinai Medical Center, UCLA Medical School Affiliate, 90048, USA. hkhamdi@aol.com
authors.forename: Hamdi K
authors.initials: HK
authors.lastname: Hamdi
authors.forename: Jacob
authors.initials: J
authors.lastname: Reznik
authors.forename: Raquel
authors.initials: R
authors.lastname: Castellon
authors.forename: Shari R
authors.initials: SR
authors.lastname: Atilano
authors.forename: John M
authors.initials: JM
authors.lastname: Ong
authors.forename: Nitin
authors.initials: N
authors.lastname: Udar
authors.forename: Jeffrey H
authors.initials: JH
authors.lastname: Tavis
authors.forename: Annette M
authors.initials: AM
authors.lastname: Aoki
authors.forename: Anthony B
authors.initials: AB
authors.lastname: Nesburn
authors.forename: David S
authors.initials: DS
authors.lastname: Boyer
authors.forename: Kent W
authors.initials: KW
authors.lastname: Small
authors.forename: Donald J
authors.initials: DJ
authors.lastname: Brown
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Kenney
mesh_terms: D000367:Age Factors; D000375:Aging; D000483:Alleles; D020087:Alu Elements / Q000235:genetics*; D001483:Base Sequence; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008969:Molecular Sequence Data; D007703:Peptidyl-Dipeptidase A / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012737:Sex Factors; D010959:Tissue Plasminogen Activator / Q000235:genetics
chemical_list: D007703:Peptidyl-Dipeptidase A; D010959:Tissue Plasminogen Activator