Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration
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- 15 April 2005
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 308 (5720) , 419-421
- https://doi.org/10.1126/science.1110359
Abstract
Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains ∼43% of AMD in older adults.Keywords
This publication has 21 references indexed in Scilit:
- The human complement factor H: functional roles, genetic variations and disease associationsMolecular Immunology, 2004
- Genetic and environmental factors influencing the human factor H plasma levelsImmunogenetics, 2004
- Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage DiseaseAmerican Journal of Human Genetics, 2004
- Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular DegenerationAmerican Journal of Human Genetics, 2004
- Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large familyHuman Molecular Genetics, 2003
- Association Between Complement Factor H and Proteoglycans in Early Human Coronary Atherosclerotic LesionsArteriosclerosis, Thrombosis, and Vascular Biology, 2003
- A common site within factor H SCR 7 responsible for binding heparin, C‐reactive protein and streptococcal M proteinEuropean Journal of Immunology, 2003
- Genetic influence on early age-related maculopathyOphthalmology, 2002
- A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathyOphthalmic Genetics, 2002
- Macrophages related to Bruch's membrane in age-related macular degenerationEye, 1990