Elastin rs2301995 Polymorphism is not Associated with Polypoidal Choroidal Vasculopathy in Caucasians

• Published in: Ophthalmic genetics Vol. 32; no. 2; pp. 80 - 82
• Main Authors: Lima, Luiz H., Merriam, Joanna E., Freund, K. Bailey, Barbazetto, Irene A., Spaide, Richard F., Yannuzzi, Lawrence A., Allikmets, Rando
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare 01-06-2011; Taylor & Francis
• Subjects: age-related macular degeneration; Aged; caucasians; Choroid - blood supply; Choroid Diseases - genetics; elastin; Elastin - genetics; European Continental Ancestry Group - genetics; genetics; Genotype; Humans; Macular Degeneration - genetics; Peripheral Vascular Diseases - genetics; Polymorphism, Single Nucleotide; polymorphisms; polypoidal choroidal vasculopathy
• ISSN: 1381-6810; 1744-5094
• DOI: 10.3109/13816810.2010.544362

Purpose: 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.
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.