Abstract
Purpose: :
Age-related macular degeneration (AMD) is the leading cause of blindness. The neovascular AMD can be subdivided into predominantly classic (PC) and minimally classic / occult (MC-O) choroidal neovascularisation (CNV). Several studies have suggested that complement factor F (CFH) Y402H polymorphisms are associated with classic CNV as compared with occult CNV suggesting there are pathophysiological differences of the 2 types of CNV.To investigate the association of polymorphisms in CFH (rs1061170), Factor B / C2 (rs 9332739, rs547154, rs4151667, rs641153), LOC387715 (rs10490924), and HTRA1 (rs11200638) with CNV phenotype.
Methods: :
PCR amplification of genomic DNA extracted from peripheral blood from 185 patients of a Caucasian population with neovascular AMD. CFH, Factor B / C2, LOC387715 and HTRA1 were analysed via Taqman PCR techniques. Chi-Square test for significant variation in CNV subtype and logistic regression was used for gene interaction.
Results: :
There were 73 patients with PC CNV and 112 patients with MC-O CNV. The mean age was 75 (range 64 - 87) in PC CNV and 79 (range 67 - 90) in MC-O CNV. Both CFH (p0.01) and HTRA (p0.05) at risk genotype is associated with predominantly classic lesions. LOC387715 and Factor B2/C2 were not associated with a particular subtype of membrane lesion.
Conclusions: :
Our study reinforces the evidence for subtype differentiation dependant upon genotype for CFH and includes similar evidence for HTRA1. No such association is found for LOC387715 or Factor B/C2. Synergistic association between CFH and HTRA was not evident.
Keywords: age-related macular degeneration • genetics • choroid: neovascularization