Seven New Loci Associated with Age-Related Macular Degeneration
By Lars G. Fritsche, Wei Chen, M. Schu, B. Yaspan, Yi Yu, G. Thorleifsson, Donald J. Zack, S. Arakawa, V. Cipriani, S. Ripke and 146 more. Nature Genetics, 2013
796 citations recorded by the source corpus.
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.
Subfields: Molecular Biology, Ophthalmology, Radiology, Nuclear Medicine and Imaging
View Paper: https://www.semanticscholar.org/paper/6fdcda9d7a79b5197ed12da43c2a5c4f8ad34db1
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In Molecular Biology
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Citations in the corpus
- Understanding multicellular function and disease with human tissue-specific networks (2015, neutral): “After labeling specifically co-expressed gene-pairs/edges across all tissues, we considered four classes of edges – C1, C2, C3 and C4 – to constitute each tissue standard:”
- An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans (2017, background): “27) have been associated with agerelated macular degeneration(14).”
- ADAMTS proteins in human disorders (2018, background): “Because efficient ADAMTS9 secretion depends on the activity of one of its modifying enzymes B3GLCT (also known as B3GALTL) [42], it is intriguing that B3GLCT and ADAMTS9 are strongly expressed in the eye [42] and vascular endothelial cells [40] and each is associated with agerelated macular degenera”