Elastin rs2301995 Polymorphism is not Associated with Polypoidal Choroidal Vasculopathy in Caucasians
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2011-06-01
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Lima, Luiz H. 
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Methods: Association analysis of allele and genotype frequencies, determined by TaqMan assays, was performed for the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the ELN locus in fifty-six patients with PCV, 368 patients with advanced age-related macular degeneration (AMD) and 368 age- and ethnically-matched unaffected controls.Results: the ELN rs2301995 SNP was not statistically significantly associated with the PCV phenotype (P == 0.9). the frequency of the minor allele of the rs2301995 SNP was practically identical in the PCV, AMD and control groups (6.3% vs. 5.4% vs. 7.1%).Conclusion: the PCV phenotype in European-American patients is not associated with rs2301995 SNP in the ELN locus.
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Ophthalmic Genetics. London: Informa Healthcare, v. 32, n. 2, p. 80-82, 2011.