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dc.contributor.authorMartínez-Barricarte, Rubén-
dc.contributor.authorRecalde, Sergio-
dc.contributor.authorFernández-Robredo, Patricia-
dc.contributor.authorMillán, Isabel-
dc.contributor.authorOlavarrieta, Leticia-
dc.contributor.authorViñuela, Antonio-
dc.contributor.authorPérez-Pérez, Julián-
dc.contributor.authorGarcía-Layana, Alfredo-
dc.contributor.authorRodríguez de Córdoba, Santiago-
dc.identifier.citationInvestigative Ophthalmology & Visual Science 53(3):1087-1094(2012)es_ES
dc.description31 p.-4 fig.-4 tab.-
dc.description.abstractPurpose. 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 (ΔCFHR3-CFHR1). The purpose of these studies was to evaluate the contribution of newly described CFHR1 alleles to the association of the 1q31 locus with AMD. Methods. Two hundred fifty-nine patients and 191 age-matched controls of Spanish origin were included in a transversal case–control study using multivariate logistic regression analysis and ROC (receiver operating characteristic) statistics to generate and test models predictive of the development of AMD. Results. 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. Conclusions. The results support a relevant role of CFHR1 in the pathogenesis of AMDes_ES
dc.description.sponsorshipSupported by Grant SAF2008-00226 from the Spanish Ministerio de Ciencia e Innovación, the Ciber de Enfermedades Raras, and the Fundación Renal Iñigo Alvarez de Toledo (SRdeC); Grants RTICS RD07/0062, FIS PI 08/1705, and FIS 11/00898 from the Instituto de Salud Carlos III (AG-L); and Grant 35/2008 from the Comunidad Autónoma de Madrid, Dirección General de Innovación Tecnológica of the Consejeria Economía e Innovavión Tecnológica (JP-P)es_ES
dc.publisherAssociation for Research in Vision and Ophthalmologyes_ES
dc.titleRelevance of complement factor H-related 1 (CFHR1) genotypes in age- related macular degeneration (AMD)es_ES
dc.description.peerreviewedPeer reviewedes_ES
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