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Seven new loci associated with age-related macular degeneration.
Nat. Genet. 45, 433-439 (2013)
Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P < 5 × 10(-8). These loci show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Our results include seven loci with associations reaching P < 5 × 10(-8) for the first time, near the genes COL8A1-FILIP1L, IER3-DDR1, SLC16A8, TGFBR1, RAD51B, ADAMTS9 and B3GALTL. A genetic risk score combining SNP genotypes from all loci showed similar ability to distinguish cases and controls in all samples examined. Our findings provide new directions for biological, genetic and therapeutic studies of AMD.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Genome-wide Association ; Complement Factor-h ; Genotype Imputation ; Apolipoprotein-e ; Influences Risk ; Susceptibility ; Gene ; Variants ; Diseases ; Cfh
Language
english
Publication Year
2013
HGF-reported in Year
2013
ISSN (print) / ISBN
1061-4036
e-ISSN
1546-1718
Journal
Nature Genetics
Quellenangaben
Volume: 45,
Issue: 4,
Pages: 433-439
Publisher
Nature Publishing Group
Publishing Place
New York, NY
Reviewing status
Peer reviewed
Institute(s)
Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
POF-Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-504100-001
G-503900-002
G-500700-001
G-503900-002
G-500700-001
PubMed ID
23455636
DOI
10.1038/ng.2578
WOS ID
WOS:000316840600015
Scopus ID
84875706378
Erfassungsdatum
2013-04-11