April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Elastin rs2301995 Polymorphism is not Associated with Polypoidal Choroidal Vasculopathy in Caucasians
Author Affiliations & Notes
  • Luiz H. Lima
    Ophthalmology, Federal University of Sao Paulo-UNIFESP, Sao Paulo, Brazil
    Ophthalmology, Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York
  • Joanna Merriam
    Ophthalmology, Columbia University, New York, New York
  • Irene A. Barbazetto
    Ophthalmology, Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York
  • K B. Freund
    Ophthalmology, Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York
  • Richard F. Spaide
    Ophthalmology, Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York
  • Lawrence A. Yannuzzi
    Ophthalmology, Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York
  • Rando Allikmets
    Ophthalmology, Columbia University, New York, New York
  • Footnotes
    Commercial Relationships  Luiz H. Lima, None; Joanna Merriam, None; Irene A. Barbazetto, None; K. B. Freund, None; Richard F. Spaide, None; Lawrence A. Yannuzzi, None; Rando Allikmets, None
  • Footnotes
    Support  NIH EY13435, EY017404, The Macula Foundation, Inc, Research to Prevent Blindness, Inc
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5250. doi:
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    • Get Citation

      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)

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Abstract

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 (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.

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%).

Conclusions: : The PCV phenotype in European-American patients is not associated with rs2301995 SNP in the ELN locus.

Keywords: genetics • retina • age-related macular degeneration 
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