Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration
| Autor: | Anthony B. Nesburn, M. Cristina Kenney, Jacob Reznik, Raquel Castellon, David S. Boyer, Shari R. Atilano, Kent W. Small, Nitin Udar, John M. Ong, Jeffrey H Tavis, Annette M. Aoki, Donald J. Brown, Hamdi K. Hamdi |
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| Rok vydání: | 2002 |
| Předmět: |
Aging
Genotype genetic structures Molecular Sequence Data Biophysics Alu element Ace gene Peptidyl-Dipeptidase A Biology Polymerase Chain Reaction Biochemistry law.invention Macular Degeneration Sex Factors Alu Elements law medicine Humans Molecular Biology Gene Alleles Polymerase chain reaction chemistry.chemical_classification Polymorphism Genetic Base Sequence Age Factors Cell Biology Macular degeneration medicine.disease Molecular biology eye diseases genomic DNA Enzyme chemistry Tissue Plasminogen Activator sense organs |
| Zdroj: | Biochemical and Biophysical Research Communications. 295:668-672 |
| ISSN: | 0006-291X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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