Genetics of age-related macular degeneration: current concepts, future directions

Semin Ophthalmol. 2011 May;26(3):77-93. doi: 10.3109/08820538.2011.577129.

Abstract

Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. More than 1.75 million individuals in the United States are affected by the advanced form of AMD. The etiological pathway of AMD is not yet fully understood, but there is a clear genetic influence on disease risk. To date, the 1q32 (CFH) and 10q26 (PLEKHA1/ARMS2/HTRA1) loci are the most strongly associated with disease; however, the variation in these genomic regions alone is unable to predict disease development with high accuracy. Therefore, current genetic studies are aimed at identifying new genes associated with AMD and their modifiers, with the goal of discovering diagnostic or prognostic biomarkers. Moreover, these studies provide the foundation for further investigation into the pathophysiology of AMD by utilizing a systems-biology-based approach to elucidate underlying mechanistic pathways.

Publication types

  • Review

MeSH terms

  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 10 / genetics
  • Complement Factor H / genetics
  • Genetic Predisposition to Disease
  • High-Temperature Requirement A Serine Peptidase 1
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Macular Degeneration / genetics*
  • Membrane Proteins / genetics
  • Proteins / genetics
  • Serine Endopeptidases / genetics

Substances

  • ARMS2 protein, human
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • PLEKHA1 protein, human
  • Proteins
  • complement factor H, human
  • Complement Factor H
  • High-Temperature Requirement A Serine Peptidase 1
  • HtrA1 protein, human
  • Serine Endopeptidases