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Invited Commentary
June 2016

Genetics and the Variable Phenotype of Age-Related Macular Degeneration

Author Affiliations
  • 1Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • 2Department of Human Genetics, The Hebrew University-Hadassah School of Medicine, Jerusalem, Israel

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Ophthalmol. 2016;134(6):681-682. doi:10.1001/jamaophthalmol.2016.0550

Age-related macular degeneration (AMD) is a multifactorial disease with a strong genetic basis. In recent years, the study of AMD genetics experienced a major advance; as a result, variants in more than 30 genes have been associated with AMD. It has been estimated that genetics contribute at least 40% of the risk associated with developing AMD.13 Most of this genetic risk is attributed to common single-nucleotide polymorphisms (SNPs) in the genes that encode CFH (HGNC 4883), ARMS2/HTRA1 (HGNC 32685/9476), and, to a lesser extent, CFB (HGNC 1037) and C3 (HGNC 1318); interestingly, the risk variants in the ARMS2 and HTRA1 genes are in nearly complete linkage disequilibrium. The remaining risk variants, including common (such as ones in VEGF [HGNC 12680] and CFI [HGNC 5394]) and rare variants (such as additional variants in CFI and CFH), have only a modest or minor contribution to the overall risk of developing AMD.1,2

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