Detalle Publicación

ARTÍCULO
Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration.
Autores: Martínez-Barricarte R; Recalde Maestre, Sergio; Fernández Robredo, Patricia; Millán I; Olavarrieta L; Viñuela A; Pérez-Pérez J; García Layana, Alfredo; Rodríguez de Córdoba S; Spanish Multicenter Group on AMD
Título de la revista: INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE
ISSN: 0146-0404
Volumen: 53
Número: 3
Páginas: 1087-94
Fecha de publicación: 2012
Resumen:
This study showed for the first time that a particular CFHR1 allotype, CFHR1*A, is strongly associated with AMD (odds ratio, 2.08; 95% confidence interval, 1.59-2.73; P<0.0001) and illustrate a peculiar genotype-phenotype correlation between the CFHR1 alleles and different diseases that may have important implications for understanding the pathophysiology of AMD. It also shows that CFHR1*A is in strong linkage disequilibrium with the CFH 402His allele, which provides additional candidate variants within the major risk haplotype at 1q31, promoting its association with AMD. Further, using the Spanish population as a model, the results showed that analysis of the CFHR1 genotypes provide sufficient information to delineate the individual risk of developing AMD