Journal article
Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis
EG Holliday, AV Smith, BK Cornes, GHS Buitendijk, RA Jensen, X Sim, T Aspelund, T Aung, PN Baird, E Boerwinkle, CY Cheng, CM van Duijn, G Eiriksdottir, V Gudnason, T Harris, AW Hewitt, M Inouye, F Jonasson, BEK Klein, L Launer Show all
Plos One | Published : 2013
Abstract
Genetic factors explain a majority of risk variance for age-related macular degeneration (AMD). While genome-wide association studies (GWAS) for late AMD implicate genes in complement, inflammatory and lipid pathways, the genetic architecture of early AMD has been relatively under studied. We conducted a GWAS meta-analysis of early AMD, including 4,089 individuals with prevalent signs of early AMD (soft drusen and/or retinal pigment epithelial changes) and 20,453 individuals without these signs. For various published late AMD risk loci, we also compared effect sizes between early and late AMD using an additional 484 individuals with prevalent late AMD. GWAS meta-analysis confirmed previously..
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Awarded by National Center for Advancing Translational Sciences
Funding Acknowledgements
The Sax Institute; Cancer Council New South Wales; the National Heart Foundation of Australia (New South Wales Division); The New South Wales Ministry of Health; Beyondblue: the National Depression Initiative; Ageing, Disability and Home Care, New South Wales Family and Community Services; the Australian Red Cross Blood Service; Uniting Care Ageing; the Australian National Health and Medical Research Council. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.