Seven new loci associated with age-related macular degeneration.
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.
Duke Scholars
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Related Subject Headings
- Risk Factors
- Polymorphism, Single Nucleotide
- Meta-Analysis as Topic
- Male
- Macular Degeneration
- Humans
- Genome-Wide Association Study
- Genetic Predisposition to Disease
- Genetic Loci
- Female
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Risk Factors
- Polymorphism, Single Nucleotide
- Meta-Analysis as Topic
- Male
- Macular Degeneration
- Humans
- Genome-Wide Association Study
- Genetic Predisposition to Disease
- Genetic Loci
- Female