Published in

Nature Research, Nature Genetics, 4(45), p. 433-439, 2013

DOI: 10.1038/ng.2578

Links

Tools

Export citation

Search in Google Scholar

Seven new loci associated with age-related macular degeneration.

Journal article published in 2013 by Lars G. Fritsche, Cornelia M. van Duijn, Matthew Schu, Brian L. Yaspan, Yi Yu, Gudmar Thorleifsson, Wei Chen, Donald J. Zack, Stephan Ripke, Satoshi Arakawa, Xueling Sim, Valentina Cipriani, Daniel E. Weeks, Robert P. Igo, Joanna E. Merriam and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

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.