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- Title
Genetic interaction assessment of major Age Related Macular Degeneration (AMD) susceptibility loci within the Northern Ireland population.
- Authors
McKay, G. J.; Silvestri, G.; Orr, N.; Chakravarthy, U.; Hughes, A. E.
- Abstract
Purpose: To assess the effect of Complement factor H (CFH), Factor B (FB), Component C2 (C2), LOC387715/HTRA1 locus and the influence of Vascular Endothelial Growth Factor (VEGF) and Apolipoprotein E (APOE) within a Northern Ireland AMD cohort. Methods: DNA samples (n=250) with end-stage wet AMD and an age and sex-matched control cohort (n=250) underwent ophthalmic examination with detailed medical and smoking history. Haplotype analysis was undertaken for CFH, CFHR1, CFHR3, LOC387715, FB, C2, VEGF and APOE. Haplotypic structure for each gene was determined from HapMap and tagged SNPs were multiplexed using SNaPshot technology (ABI). Results: Results show a higher incidence of AMD risk haplotypes within the affected cohort with a decreasing incidence of protective haplotypes when compared to the controls for CFH, C2/FB and LOC387715. Genetic variation within C2 and FB would appear to be less strongly associated with the disease cohort than previously reported. A significant role for VEGF in relation to wet AMD has not been shown. Conclusions: It would appear that CFH and LOC387715 remain the most strongly associated genetic factors with AMD and that VEGF is unlikely to have any significant involvement with disease manifestation within this population.
- Subjects
NORTHERN Ireland; VASCULAR endothelial growth factors; RETINAL degeneration; DNA; HUMAN genetic variation; SMOKING
- Publication
Ulster Medical Journal, 2008, Vol 77, Issue 1, p72
- ISSN
0041-6193
- Publication type
Article