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• W2133184429 endingPage "1562" @default.
• W2133184429 startingPage "1562" @default.
• W2133184429 abstract "<h3>Objective</h3> To analyze the frequency of major age-related macular degeneration (AMD)-associated alleles in patients with multifocal choroiditis (MFC). <h3>Methods</h3> A cohort of 48 patients with MFC was compared with previously characterized cohorts of patients with advanced AMD (368 samples) and matched unaffected controls (368 samples). Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated alleles were evaluated: risk alleles in complement factor H (<i>CFH</i>) gene (Y402H and IVS14) and<i>LOC387715/HTRA1</i>gene on 10q26 (A69S) and protective alleles in<i>CFH</i>(IVS1, IVS6, and delCFHR1-3) and complement factor B loci (H9L and R32Q). <h3>Results</h3> Frequencies of all major AMD-associated alleles in the<i>CFH</i>locus indicate a strong, statistically significant association of<i>CFH</i>gene single nucleotide polymorphisms and MFC. However, the same analysis for the single nucleotide polymorphisms in complement factor B and 10q26 loci matched the results in the control group. <h3>Conclusions</h3> Like AMD, the MFC phenotype is strongly associated with the major alleles/haplotypes in the<i>CFH</i>locus. <h3>Clinical Relevance</h3> We report compelling evidence of a strong association between<i>CFH</i>polymorphisms and MFC, which contributes to the understanding of MFC pathogenesis and suggests new potential therapeutic targets." @default.
• W2133184429 created "2016-06-24" @default.
• W2133184429 creator A5059541679 @default.
• W2133184429 date "2008-11-10" @default.
• W2133184429 modified "2023-09-25" @default.
• W2133184429 title "Analysis of Major Alleles Associated With Age-Related Macular Degeneration in Patients With Multifocal Choroiditis" @default.
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• W2133184429 doi "https://doi.org/10.1001/archopht.126.11.1562" @default.
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