May 2008
Volume 49, Issue 13
Free
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:https://doi.org/
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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: https://doi.org/.

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

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Abstract
 
Purpose:
 

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.

 
Methods:
 

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.

 
Results:
 

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.

 
Conclusions:
 

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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