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E. Fletcher, T. Adewoyin, M. Hodges, F. Chang, K. Gregory-Evans, V. Chong; Genotype / Phenotype Correlation of Neovascular Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2671. doi: https://doi.org/.
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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.
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.
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.
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.
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