May 2008
Volume 49, Issue 13
ARVO Annual Meeting Abstract  |   May 2008
Association of the Y402H Polymorphism in Complement Factor H Gene and Age-Related Macular Degeneration in Brazilians
Author Affiliations & Notes
  • A. Teixeira
    Ophthalmology, UNIFESP, Sao Paulo, Brazil
  • A. S. Silva
    ICB, USP, Sao Paulo, Brazil
  • F. L. H. Lin
    ICB, USP, Sao Paulo, Brazil
  • L. Issac
    ICB, USP, Sao Paulo, Brazil
  • R. Belfort
    Ophthalmology, UNIFESP, Sao Paulo, Brazil
  • Footnotes
    Commercial Relationships  A. Teixeira, None; A.S. Silva, None; F.L.H. Lin, None; L. Issac, None; R. Belfort, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1706. doi:
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      A. Teixeira, A. S. Silva, F. L. H. Lin, L. Issac, R. Belfort; Association of the Y402H Polymorphism in Complement Factor H Gene and Age-Related Macular Degeneration in Brazilians. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1706. doi:

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

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This study was conducted to investigate whether the same associationbetween the Y402H polymorphism in CFH and AMD could be expectedin Brazilian individuals, known constituted by a large mixed-racepopulation.


Blood samples were collected from AMD patients (111) and controlscounterparts (111) from the Ophthalmology Department/SãoPaulo Federal University. After plasma separation, genomic DNAwas extracted, amplified by PCR technique and analyzed for theY402H polymorphism, located in exon 9 of CFH and PCR-directedsequencing. The samples were analized by the department of Immunology/SãoPaulo University. Criteria for inclusion were age (more than50 years) and the diagnosis of AMD without others ocular causesof neovascularization.


Mean age of AMD was 73,40 ys (50-92 ys) and Control was 71,25ys (50-93 ys), the prevalence of males were 39% (AMD) and 33%(Control). The frequency of the CC (Y402H) homozygous was 37.7%in AMD patients compared with 14.3% in controls (OR 4,29); CTheterozygous was 38% in AMD patients compared with 43.9% incontrols (OR 1,35) and 27.3 % TT (T402) homozygous (41.8% controlgroup). Patients between 60-79 ys heterozygous type were prevalent,50-59 ys and 80-89 ys CC homozygous type were prevalent andindividuals more than 90 ys CT and TT were equal with no CC.


The association of the Y402H polymorphism of the CFH gene toAMD susceptibility is more present in pacients with AMD compareto the control group.  


Keywords: age-related macular degeneration • genetics • retina 

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