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

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.

journal_name

Semin Ophthalmol

authors

Deangelis MM,Silveira AC,Carr EA,Kim IK

doi

10.3109/08820538.2011.577129

subject

Has Abstract

pub_date

2011-05-01 00:00:00

pages

77-93

issue

3

eissn

0882-0538

issn

1744-5205

journal_volume

26

pub_type

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