Seven new loci associated with age-related macular degeneration.
Title | Seven new loci associated with age-related macular degeneration. |
Publication Type | Journal Article |
Year of Publication | 2013 |
Authors | Fritsche, L. G., Chen W., Schu M., Yaspan B. L., Yu Y., Thorleifsson G., et al. |
Corporate Authors | AMD Gene Consortium |
Journal | Nat Genet |
Volume | 45 |
Issue | 4 |
Pagination | 433-9, 439e1-2 |
Date Published | 2013 Apr |
ISSN | 1546-1718 |
Keywords | Biological 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. |
DOI | 10.1038/ng.2578 |
Alternate Journal | Nat. Genet. |
PubMed ID | 23455636 |
PubMed Central ID | PMC3739472 |
Grant List | G0000067 / / 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 |