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Luiz H. Lima, Joanna Merriam, Irene A. Barbazetto, K B. Freund, Richard F. Spaide, Lawrence A. Yannuzzi, Rando Allikmets; Elastin rs2301995 Polymorphism is not Associated with Polypoidal Choroidal Vasculopathy in Caucasians. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5250.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the association of the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the elastin gene (ELN) with polypoidal choroidal vasculopathy (PCV) in European-American patients.
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 (7q11.2) in fifty-six patients with PCV, 368 patients with advanced age-related macular degeneration (AMD) and 368 age- and ethnically-matched unaffected controls.
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%).
The PCV phenotype in European-American patients is not associated with rs2301995 SNP in the ELN locus.
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