April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Haplotypes in CFH, Factor B and LOC387715 Genes on CNV-AMD
S. Recalde; J. Zarranz-Ventura; P. Fernandez-Robredo; J. M. Caire; H. Heras; R. Martinez-Barricarte; A. Salinas-Alaman; S. R. De Cordoba; A. Garcia-Layana
Author Affiliations & Notes
  • S. Recalde
    Ophthalmology Laboratory, University of Navarra, Pamplona, Spain
  • J. Zarranz-Ventura
    Ophthalmology, Clínica Universidad de Navarra. University of Navarra, Pamplona, Spain
  • P. Fernandez-Robredo
    Ophthalmology Laboratory, University of Navarra, Pamplona, Spain
  • J. M. Caire
    Ophthalmology, Clínica Universidad de Navarra. University of Navarra, Pamplona, Spain
  • H. Heras
    Ophthalmology, Hospital Virgen del Camino, Pamplona, Spain
  • R. Martinez-Barricarte
    Departamento de Fisiopatología Celular y Molecular, Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas and Centro de Investigación Biomédica en Red de Enfermedades Raras–Instituto de Salud Carlos, Madrid, Spain
  • A. Salinas-Alaman
    Ophthalmology, Clínica Universidad de Navarra. University of Navarra, Pamplona, Spain
  • S. R. De Cordoba
    Departamento de Fisiopatología Celular y Molecular, Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas and Centro de Investigación Biomédica en Red de Enfermedades Raras–Instituto de Salud Carlos, Madrid, Spain
  • A. Garcia-Layana
    Ophthalmology, Clínica Universidad de Navarra. University of Navarra, Pamplona, Spain
  • Footnotes
    Commercial Relationships  S. Recalde, None; J. Zarranz-Ventura, None; P. Fernandez-Robredo, None; J.M. Caire, None; H. Heras, None; R. Martinez-Barricarte, None; A. Salinas-Alaman, None; S.R. De Cordoba, None; A. Garcia-Layana, None.
  • Footnotes
    Support  Supported in part by a grant from Gangoiti Foundation, PIUNA projects of University of Navarra Foundation and Evaluación de Tecnologías Sanitarias of Instituto Carlos III (PI06/90133), Madrid, Spain
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1264. doi:
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      S. Recalde, J. Zarranz-Ventura, P. Fernandez-Robredo, J. M. Caire, H. Heras, R. Martinez-Barricarte, A. Salinas-Alaman, S. R. De Cordoba, A. Garcia-Layana; Haplotypes in CFH, Factor B and LOC387715 Genes on CNV-AMD. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1264.

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Abstract

Purpose: : To analyze the specific SNP haplotypes of principal genes implicated in CNV-AMD in a cohort of 97 patients and 98 controls

Methods: : 6 SNPs within CFH gene, 5 within MCP, 3 within Factor B , 1 of C3 and 1 of LOC387715 were genotyped by allelic discrimination using TaqMan® SNP genotyping assays or by automatic DNA sequencing. Haplotype frequencies were estimated by the SNPstats software.

Results: : CFH H1 and Factor B B1 haplotypes are associated to a higher risk of CNV-AMD (OR: 2.6, p<0.001; 1.9, p=0.008) whereas CFH H2, H4a, and Factor B B3 had a protective effect (OR: 0.5, p=0.02; 0.26, p<0.001; 0.33, p=0.008). Significant ratios were also observed for Y402H, IV15, A69S and ΔCFHR1-3.

Conclusions: : CFH and Factor B haplotypes are specifically associated to CNV-AMD.

Keywords: age-related macular degeneration • neovascularization • genetics 
© 2010, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2024 Association for Research in Vision and Ophthalmology.
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