Almost total protection from age-related macular degeneration by haplotypes of the Regulators of Complement Activation |
| |
| Authors: | Williamson Joseph F McLure Craig A Guymer Robyn H Baird Paul N Millman John Cantsilieris Stuart Dawkins Roger L |
| |
| Affiliation: | aC.Y. O'Connor ERADE Village Foundation, Canning Vale, Western Australia, Australia;bDivision of Health Sciences, Murdoch University, Murdoch, Western Australia, Australia;cGenetic Technologies Limited, Fitzroy, Victoria, Australia;dDepartment of Veterinary Sciences, University of Melbourne, Victoria 3000, Australia;eCentre for Eye Research Australia, University of Melbourne, Victoria, Australia;fFaculty of Medicine & Dentistry, University of Western Australia, Nedlands, Western Australia, Australia |
| |
| Abstract: | Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It has been proposed that the polymorphism encoding Y402H (T1277C) in the complement factor H gene (CFH) is one of the main determinants of disease. We genotyped the polymorphism at a number of loci in the region encompassing the Regulators of Complement Activation (RCA) on chromosome 1, including T1277C SNP, in 187 patients and 146 controls. Haplotypes have been classified as protective (P) or susceptible (S) with respect to AMD. This included the identification of an S haplotype with a T at 1277. The results show that no single locus should be assumed to be directly responsible for AMD, but rather argue for the existence of RCA haplotypes, which can be assigned meaningful predictive values for AMD. We conclude that the critical sequences are within a region 450 kb centromeric to 128 kb telomeric of CFH. |
| |
| Keywords: | Abbreviations: AH, ancestral haplotype AMD, age-related macular degeneration C2, complement component 2 C3, complement component 3 CFB, complement factor B CFH, complement factor H CNV, copy number variation indels, insertions or deletions MBL2, mannose-binding lectin 2 MHC, major histocompatibilty complex P, protective haplotype RCA, Regulators of Complement Activation S, susceptible haplotype VEGF, vascular endothelial growth factor |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ |
|
