Association of complement factor H Y402H polymorphism with phenotype of neovascular age related macular degeneration in Israel

作者：Chowers Itay^*; Cohen Yoram; Goldenberg Cohen Nitza; Vicuna Kojchen Joaquin; Lichtinger Alejandro; Weinstein Orly; Pollack Ayala; Axer Siegel Ruth; Hemo Itzhak; Averbukh Edward; Banin Eyal; Meir Tal; Lederman Michal

来源：Molecular Vision, 2008, 14(216): 1829-1834.

Purpose: The Tyr402His variant of complement factor H (CFH) is associated with age-related macular degeneration (AMD) in several populations. Our aim was to evaluate if this single nucleotide polymorphism (SNP) is associated with AMD in the Israeli population and see if it underlies heterogeneity in clinical manifestation and responses to photodynamic therapy (PDT), which characterize neovascular AMD (NVAMD).
Methods: Genotyping for the Tyr402His variant was performed in 240 NVAMD patients (78.1 +/- 7 age range) and 118 controls (70.8 +/- 8.2 age range). Genotyping was correlated with clinical characteristics and treatment parameters in sequential 131 NVAMD patients who underwent PDT.
Results: The Tyr402His coding allele was associated with NVAMD in the Israeli population: odds ratio(OR) = 1.9; 95% confidence interval (CI)= 1.3-2.6; p = 0.0002. Homozygosity for this variant was associated with an OR of 3.4 (95% CI: 1.7-6.8) for having AMD. There was no association among this SNP and age of onset of NVAMD, gender, neovascular lesion size, initial or final visual acuity, and number of PDT sessions required.
Conclusions: In accordance with findings from the majority of previous study populations, the Tyr402His variant of CFH is associated with NVAMD in Israel. However, heterogeneity in clinical manifestations of NVAMD and in its response to PDT is not underlined by this CFH variant and may be accounted for by other genetic and environmental factors.

• 出版日期2008-10-8