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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration
2013
Nature Genetics
To define the role of rare variants in advanced age-related macular degeneration (AMD) risk, we sequenced the exons of 681 genes within AMD-associated loci and pathways in 2,493 cases and controls. We first tested each gene for increased or decreased burden of rare variants in cases compared to controls. We found that 7.8% of AMD cases compared to 2.3% of controls are carriers of rare missense CFI variants (OR=3.6, p=2×10 −8 ). There was a predominance of dysfunctional variants in cases
doi:10.1038/ng.2741
pmid:24036952
pmcid:PMC3902040
fatcat:2cxnoxijqjevncgintfuahcpsq