Article
Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration.
Investigative ophthalmology & visual science - 1 Mar 2012
Martínez-Barricarte Rubén, Recalde Sergio, Fernández-Robredo Patricia, Millán Isabel, Olavarrieta Leticia, Viñuela Antonio, Pérez-Pérez Julián, García-Layana Alfredo, Rodríguez de Córdoba Santiago
Abstract excerpt
PURPOSE: Age-related macular degeneration (AMD) has a strong genetic component with a major locus at 1q31, including the complement factor H (CFH) gene. Detailed analyses of this locus have demonstrated the existence of one SNP haplotype block, carrying the CFH 402His allele, which confers increased risk for AMD, and two protective SNP haplotypes, one of them carrying a deletion of the CFHR1 and CFHR3 genes...
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