elastin and Choroid-Diseases

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 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.

Topics: Aged; Choroid; Choroid Diseases; Elastin; Genotype; Humans; Macular Degeneration; Peripheral Vascular Diseases; Polymorphism, Single Nucleotide; White People