May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Genotype / Phenotype Correlation of Neovascular Age-Related Macular Degeneration
Author Affiliations & Notes
  • E. Fletcher
    Ophthalmology, Royal Berkshire and Battle NHS Trust, Marlow, United Kingdom
  • T. Adewoyin
    Ophthalmology, Guys and St Thomas' Hospital, London, United Kingdom
  • M. Hodges
    Neurosciences, Imperial College, London, United Kingdom
  • F. Chang
    Neurosciences, Imperial College, London, United Kingdom
  • K. Gregory-Evans
    Neurosciences, Imperial College, London, United Kingdom
  • V. Chong
    Ophthalmology, Oxford Eye Hospital, Oxford, United Kingdom
  • Footnotes
    Commercial Relationships  E. Fletcher, None; T. Adewoyin, None; M. Hodges, None; F. Chang, None; K. Gregory-Evans, None; V. Chong, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2671. doi:https://doi.org/
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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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      © ARVO (1962-2015); The Authors (2016-present)

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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 
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