Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration.
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.
Hamdi
Hamdi K
HK
Department of Surgery, Ophthalmology Research Laboratories, Burns and Allen Research Institute, Cedars-Sinai Medical Center, UCLA Medical School Affiliate, 90048, USA. hkhamdi@aol.com
Reznik
Jacob
J
Castellon
Raquel
R
Atilano
Shari R
SR
Ong
John M
JM
Udar
Nitin
N
Tavis
Jeffrey H
JH
Aoki
Annette M
AM
Nesburn
Anthony B
AB
Boyer
David S
DS
Small
Kent W
KW
Brown
Donald J
DJ
Kenney
M Cristina
MC
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
D007703:Peptidyl-Dipeptidase A; D010959:Tissue Plasminogen Activator