Abstract
Age-related macular degeneration (AMD) is a chronic, degenerative, and significant cause of visual impairment and blindness in the elderly. Genetic and epidemiological studies have confirmed that AMD has a strong genetic component, which has encouraged the application of increasingly sophisticated genetic techniques to uncover the important underlying genetic variants. Although various genes and pathways have been implicated in the risk for AMD, complement activation has been emphasized repeatedly throughout the literature as having a major role both physiologically and genetically in susceptibility to and pathogenesis of this disease. This article explores the research efforts that brought about the discovery and characterization of the role of inflammatory and immune processes (specifically complement) in AMD. The focus herein is on the genetic evidence for the role of complement in AMD as supported specifically by genome-wide association (GWA) studies, which interrogate hundreds of thousands of variants across the genome in a hypothesis-free approach, and other genetic interrogation methods.
| Original language | English (US) |
|---|---|
| Pages (from-to) | a017186 |
| Journal | Cold Spring Harbor perspectives in medicine |
| Volume | 4 |
| Issue number | 12 |
| DOIs | |
| State | Published - Dec 1 2014 |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
Genome-wide association studies : getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration. / Cooke Bailey, Jessica N.; Pericak-Vance, Margaret A.; Haines, Jonathan L.
In: Cold Spring Harbor perspectives in medicine, Vol. 4, No. 12, 01.12.2014, p. a017186.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Genome-wide association studies
T2 - getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration
AU - Cooke Bailey, Jessica N.
AU - Pericak-Vance, Margaret A.
AU - Haines, Jonathan L.
PY - 2014/12/1
Y1 - 2014/12/1
N2 - Age-related macular degeneration (AMD) is a chronic, degenerative, and significant cause of visual impairment and blindness in the elderly. Genetic and epidemiological studies have confirmed that AMD has a strong genetic component, which has encouraged the application of increasingly sophisticated genetic techniques to uncover the important underlying genetic variants. Although various genes and pathways have been implicated in the risk for AMD, complement activation has been emphasized repeatedly throughout the literature as having a major role both physiologically and genetically in susceptibility to and pathogenesis of this disease. This article explores the research efforts that brought about the discovery and characterization of the role of inflammatory and immune processes (specifically complement) in AMD. The focus herein is on the genetic evidence for the role of complement in AMD as supported specifically by genome-wide association (GWA) studies, which interrogate hundreds of thousands of variants across the genome in a hypothesis-free approach, and other genetic interrogation methods.
AB - Age-related macular degeneration (AMD) is a chronic, degenerative, and significant cause of visual impairment and blindness in the elderly. Genetic and epidemiological studies have confirmed that AMD has a strong genetic component, which has encouraged the application of increasingly sophisticated genetic techniques to uncover the important underlying genetic variants. Although various genes and pathways have been implicated in the risk for AMD, complement activation has been emphasized repeatedly throughout the literature as having a major role both physiologically and genetically in susceptibility to and pathogenesis of this disease. This article explores the research efforts that brought about the discovery and characterization of the role of inflammatory and immune processes (specifically complement) in AMD. The focus herein is on the genetic evidence for the role of complement in AMD as supported specifically by genome-wide association (GWA) studies, which interrogate hundreds of thousands of variants across the genome in a hypothesis-free approach, and other genetic interrogation methods.
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U2 - 10.1101/cshperspect.a017186
DO - 10.1101/cshperspect.a017186
M3 - Article
C2 - 25213188
VL - 4
SP - a017186
JO - Cold Spring Harbor perspectives in medicine
JF - Cold Spring Harbor perspectives in medicine
SN - 2157-1422
IS - 12
ER -