2007
DOI: 10.1038/sj.eye.6702830
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An analysis of the CFH Y402H genotype in AMD patients and controls from the UK, and response to PDT treatment

Abstract: Aim Mutation in the complement factor H (CFH) gene is an important risk factor for age-related macular degeneration (AMD). In this study, we identified the strength of the CFH Y402H gene variant association in a UK AMD cohort and tested the hypothesis that this variant may influence the biological response of choroidal neovascularisation (CNV) following photodynamic therapy (PDT) for CNV. Methods A total of 557 cases with AMD and 551 normal controls were genotyped for the CFH Y402H (1277 C/T) variant using the… Show more

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Cited by 76 publications
(63 citation statements)
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“…We found a significant difference in the percentage of eyes in each CFH genotype group with predominantly classic lesions, consistent with our and other earlier reports, [10][11][12] which found a higher percentage of predominantly classic lesions in the CFH CFH, complement factor H; PDT, photodynamic therapy; SD, standard deviation; VA, visual acuity. The P-value is from a one-way analysis of variance that compares means of the variables between genotypes using a Bonferroni multiple comparison correction.…”
Section: Discussionsupporting
confidence: 82%
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“…We found a significant difference in the percentage of eyes in each CFH genotype group with predominantly classic lesions, consistent with our and other earlier reports, [10][11][12] which found a higher percentage of predominantly classic lesions in the CFH CFH, complement factor H; PDT, photodynamic therapy; SD, standard deviation; VA, visual acuity. The P-value is from a one-way analysis of variance that compares means of the variables between genotypes using a Bonferroni multiple comparison correction.…”
Section: Discussionsupporting
confidence: 82%
“…While a small number of reports have correlated AMD clinical phenotypes with CFH Y402H genotype, 10-12 with one study demonstrating a possible association between PDT response and CFH genotype, 11 there are still few data available regarding such genotype-phenotype correlations.…”
Section: Discussionmentioning
confidence: 99%
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“…Recently, genetic variants in the complement factor H (CFH) gene on chromosome 1q32 have been tested to explain the response to PDT [10][11][12][13][14]. In particular, the Y402H coding variant (rs1061170) in CFH is presumed to have functional consequences consistent with AMD pathology [15][16][17][18][19] and most studies have been conducted to find that CFH Y402H correlates with the outcome of PDT [10][11][12][13][14]. In neovascular AMD, Brantley et al [12] reported an association of the CFH Y402H variant with the visual outcome after PDT [12].…”
Section: Introductionmentioning
confidence: 99%