Journal article
Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.
S Cantsilieris, SJ White, AJ Richardson, RH Guymer, PN Baird
Plos One | PUBLIC LIBRARY SCIENCE | Published : 2012
Abstract
Copy Number Variants (CNVs) are now recognized as playing a significant role in complex disease etiology. Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the western world. While a number of genes and environmental factors have been associated with both risk and protection in AMD, the role of CNVs has remained largely unexplored. We analyzed the two major AMD risk-associated regions on chromosome 1q32 and 10q26 for CNVs using Multiplex Ligation-dependant Probe Amplification. The analysis targeted nine genes in these two key regions, including the Complement Factor H (CFH) gene, the 5 CFH-related (CFHR) genes representing a known copy number "hot..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This study was supported by the National Health and Medical Research Council (NHMRC) Centre for Clinical Research Excellence #529923-Translational Clinical Research in Major Eye Diseases and NHMRC Project Grant #1008979 and NHMRC practitioner fellowship (RHG). CERA and MIMR receives Operational Infrastructure Support from the Victorian Government. The information contained in this manuscript has not been published before. The authors have no financial interests or involvements with companies regarding this work. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.