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S. Recalde, J. Zarranz-Ventura, P. Fernandez-Robredo, J. M. Caire, H. Heras, R. Martinez-Barricarte, A. Salinas-Alaman, S. R. De Cordoba, A. Garcia-Layana; Haplotypes in CFH, Factor B and LOC387715 Genes on CNV-AMD. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1264.
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© ARVO (1962-2015); The Authors (2016-present)
To analyze the specific SNP haplotypes of principal genes implicated in CNV-AMD in a cohort of 97 patients and 98 controls
6 SNPs within CFH gene, 5 within MCP, 3 within Factor B , 1 of C3 and 1 of LOC387715 were genotyped by allelic discrimination using TaqMan® SNP genotyping assays or by automatic DNA sequencing. Haplotype frequencies were estimated by the SNPstats software.
CFH H1 and Factor B B1 haplotypes are associated to a higher risk of CNV-AMD (OR: 2.6, p<0.001; 1.9, p=0.008) whereas CFH H2, H4a, and Factor B B3 had a protective effect (OR: 0.5, p=0.02; 0.26, p<0.001; 0.33, p=0.008). Significant ratios were also observed for Y402H, IV15, A69S and ΔCFHR1-3.
CFH and Factor B haplotypes are specifically associated to CNV-AMD.
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