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Seven new loci associated with age-related macular degeneration.

TitleSeven new loci associated with age-related macular degeneration.
Publication TypeJournal Article
Year of Publication2013
AuthorsFritsche, L. G., Chen W., Schu M., Yaspan B. L., Yu Y., Thorleifsson G., et al.
Corporate AuthorsAMD Gene Consortium
JournalNat Genet
Volume45
Issue4
Pagination433-9, 439e1-2
Date Published2013 Apr
ISSN1546-1718
KeywordsBiological Markers, Case-Control Studies, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Macular Degeneration, Male, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk Factors
Abstract

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.

DOI10.1038/ng.2578
Alternate JournalNat. Genet.
PubMed ID23455636
PubMed Central IDPMC3739472
Grant ListG0000067 / / Medical Research Council / United Kingdom
MR/K006584/1 / / Medical Research Council / United Kingdom
P30 EY014800 / EY / NEI NIH HHS / United States
R01 EY013435 / EY / NEI NIH HHS / United States
R01 EY022005 / EY / NEI NIH HHS / United States
R01 HG007022 / HG / NHGRI NIH HHS / United States

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