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Sergio Recalde, Patricia Fernandez, Laura Garcia-Garcia, Jose Caire, Ana Hernández, Vanessa Fernandez-Garcia, Maite Moreno-Orduña, Alfredo Garcia-Layana; Polymorphisms association of CFH, BF, C3, FHR 1-3 and ARMS2 genes with geographic atrophy progression in Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6183.
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Age related macular degeneration (AMD) is a leading cause of blindness. AMD is a complex disorder caused by genetic and environmental factors, in which single nucleotide polymorphisms (SNPs) in the genes CFH, BF, C3, FHR 1-3, and ARMS2/HTRA1 have prognostic importance of major risk to develop advanced AMD. To determine if genotype is associated with rate of growth of geographic atrophy (GA) in eyes with AMD, we assessed the relationship of GA progression with the previously mentioned SNPs associated with AMD in a Spanish population.
We performed a prospective, controlled, multicenter study in 8 Spanish Hospitals. Fundus autofluorescence photographs (FAF) were taken at 0 and 24 months from patients with GA form of AMD and changes in cumulative areas of GA were evaluated in 73 eyes of 73 patients. DNA samples were collected from donors to analyse SNPs in CFH, BF, C3, FHR 1-3, and ARMS2 genes. Simultaneous detection of SNPs was based on Multiplex PCR technology and minisequencing. Logistic regression was used to analyse the association of SNPs, Age, BMI, and smoking with GA progression.
The logistic regression analysis for Rate of Progression (RP) and Relative Growth (RG) showed a significant association between RP and genetic factors [Y402H (p=0.036), I62V (p=0.039)] and environmental factors [gender (p=0.025) and age (p=0.02) and between RG and genetic factor [R32Q (p=0.043)].
This study confirms that variants in CFH and CB genes and environmental risk factors confer significant risk for progression in geographic atrophy of AMD in a Spanish population.
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