Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.

Abstract:

:Age-related macular degeneration (AMD) is a progressive neurodegenerative disease, which affects quality of life for millions of elderly individuals worldwide. AMD is associated with a diverse spectrum of clinical phenotypes, all of which include the death of photoreceptors in the central part of the human retina (called the macula). Tremendous progress has been made in identifying genetic susceptibility variants for AMD. Variants at chromosome 1q32 (in the region of CFH) and 10q26 (LOC387715/ARMS2) account for a large part of the genetic risk to AMD and have been validated in numerous studies. In addition, susceptibility variants at other loci, several as yet unidentified, make substantial cumulative contribution to genetic risk for AMD; among these, multiple studies support the role of variants in APOE and C2/BF genes. Genome-wide association and re-sequencing projects, together with gene-environment interaction studies, are expected to further define the causal relationships that connect genetic variants to AMD pathogenesis and should assist in better design of prevention and intervention.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Swaroop A,Branham KE,Chen W,Abecasis G

doi

10.1093/hmg/ddm212

subject

Has Abstract

pub_date

2007-10-15 00:00:00

pages

R174-82

eissn

0964-6906

issn

1460-2083

pii

16/R2/R174

journal_volume

16 Spec No. 2

pub_type

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