Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration

Biochem Biophys Res Commun. 2002 Jul 19;295(3):668-72. doi: 10.1016/s0006-291x(02)00728-3.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Aging
  • Alleles
  • Alu Elements / genetics*
  • Base Sequence
  • Genotype
  • Humans
  • Macular Degeneration / genetics*
  • Molecular Sequence Data
  • Peptidyl-Dipeptidase A / genetics*
  • Peptidyl-Dipeptidase A / metabolism
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Sex Factors
  • Tissue Plasminogen Activator / genetics

Substances

  • Peptidyl-Dipeptidase A
  • Tissue Plasminogen Activator