Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration
Laura Lorés‐Motta, Anna E. van Beek, Esther Willems, Judith Zandstra, Gerard van Mierlo, Alfred Einhaus, Jean-Luc Mary, Corinne Stucki, Bjorn Bakker, Carel B. Hoyng, Sascha Fauser, Simon J. Clark, Marien I. de Jonge, Everson Nogoceke, Elod Koertvely, Ilse Jongerius, Taco W. Kuijpers, Anneke I. den Hollander
Abstract
). Finally, we showed localization of FHR-2 and FHR-5 in the choriocapillaris and in drusen. Our study identifies FHR proteins as key proteins in the AMD disease mechanism. Consequently, therapies that modulate FHR proteins might be effective for treating or preventing progression of AMD. Such therapies could target specific individuals with AMD on the basis of their genotypes at the CFH locus.
Topics & Concepts
Factor HMacular degenerationLocus (genetics)HaplotypeGenome-wide association studyGeneticsAllele frequencyBiologyAlleleGenetic associationPopulationInternal medicineSingle-nucleotide polymorphismGeneComplement systemMedicineGenotypeAntibodyEnvironmental healthOphthalmologyRetinal Diseases and TreatmentsRetinal Imaging and AnalysisComplement system in diseases