June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Complement factor H polymorphisms associated with exudative or dry AMD in the Spanish population.
Author Affiliations & Notes
  • Montserrat Garcia
    Unidad de Genética de Enfermedades Oculares, Fundación de Investigación Oftalmológica. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain
  • Lydia Álvarez
    Unidad de Genética de Enfermedades Oculares, Fundación de Investigación Oftalmológica. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain
  • Alicja Maria Nogacka
    Unidad de Genética de Enfermedades Oculares, Fundación de Investigación Oftalmológica. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain
  • Hector Gonzalez-Iglesias
    Unidad de Genética de Enfermedades Oculares, Fundación de Investigación Oftalmológica. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain
  • Julio Escribano
    Laboratorio de Genética Molecular Humana, Facultad de Medicina/Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, Albacete, Spain
  • Beatriz Fernández-Vega
    Unidad de Genética de Enfermedades Oculares, Fundación de Investigación Oftalmológica. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain
  • Alvaro Fernández-Vega
    Unidad de Genética de Enfermedades Oculares, Fundación de Investigación Oftalmológica. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain
  • Luis Fernandez-Vega
    Unidad de Genética de Enfermedades Oculares, Fundación de Investigación Oftalmológica. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain
  • Miguel Coca-Prados
    Unidad de Genética de Enfermedades Oculares, Fundación de Investigación Oftalmológica. Instituto Oftalmológico Fernández-Vega, Oviedo, Spain
    Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT
  • Footnotes
    Commercial Relationships Montserrat Garcia, None; Lydia Álvarez, None; Alicja Nogacka, None; Hector Gonzalez-Iglesias, None; Julio Escribano, None; Beatriz Fernández-Vega, None; Alvaro Fernández-Vega, None; Luis Fernandez-Vega, None; Miguel Coca-Prados, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 783. doi:
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      Montserrat Garcia, Lydia Álvarez, Alicja Maria Nogacka, Hector Gonzalez-Iglesias, Julio Escribano, Beatriz Fernández-Vega, Alvaro Fernández-Vega, Luis Fernandez-Vega, Miguel Coca-Prados; Complement factor H polymorphisms associated with exudative or dry AMD in the Spanish population.. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):783.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: To elucidate the potential role of single nucleotide polymorphisms (SNPs) in complement factor H (CFH) gene in Spanish patients with aged-related macular degeneration (AMD).

Methods: A case-control study of 136 (46 dry, 37 wet, 53 dry + wet) unrelated native Spanish diagnosed with AMD and 106 controls matched by age and ethnicity were enrolled. DNA was isolated from peripheral blood and subjected to genotyping for AMD-associated SNPs (rs3753394, rs529825, rs800292, rs3766404, rs203674, rs3753396, rs1065489 and rs10671170) using TaqMan probes and restriction fragment-length polymorphism (RFLP). The association study was performed using the HaploView 4.0 software.

Results: The allelic frequency analysis revealed that rs529825, rs800292, rs3766404, rs203674 and rs10671170 were significantly associated with an increased risk for AMD. The haplotypes CGG (rs529825, rs800292 and rs233674) and GCAG (rs203674, rs1061170, rs3752296 and rs1065489), were significantly associated with AMD whereas the haplotypes CAA (rs529825, rs800292 and rs233674) and TTAG (rs203674, rs1061170, rs3752296 and rs1065489) were found to be protective. Small differences in allelic frequencies were found between dry or exudative cases, these differences were not significant and did not distinguish the two clinical forms of AMD

Conclusions: This study confirmed significant association of SNPs rs529825, rs800292, rs3766404, rs203674 and rs1061170 in the CFH gene with susceptibility to AMD in the Spanish population. We identified haplotypes that confer protection or increased risk of AMD. We did not find any specific genetic variant in CFH capable to distinguish the different clinical forms of AMD in this cohort. Collectively, our results confirmed that CFH represents a strong genetic risk factor for this disease in the Spanish population.

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