May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Alleles of the Y402H Variant of the Complement Factor H (CFH) Gene and Progression of Age Related Macular Degeneration (AMD)
Author Affiliations & Notes
  • L. Robman
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
  • P. Baird
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
  • A. Richardson
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
  • P. Dimitrov
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
  • G. Tikellis
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
  • C. McCarty
    Marshfield Clinic Research Foundation, Marshfield, Wisconsin
  • R. Guymer
    Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia
  • Footnotes
    Commercial Relationships L. Robman, None; P. Baird, None; A. Richardson, None; P. Dimitrov, None; G. Tikellis, None; C. McCarty, None; R. Guymer, None.
  • Footnotes
    Support NHMRC Grant 128201
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 3235. doi:
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    • Get Citation

      L. Robman, P. Baird, A. Richardson, P. Dimitrov, G. Tikellis, C. McCarty, R. Guymer; Alleles of the Y402H Variant of the Complement Factor H (CFH) Gene and Progression of Age Related Macular Degeneration (AMD). Invest. Ophthalmol. Vis. Sci. 2007;48(13):3235.

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

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Abstract

Purpose:: To examine the association of CFH genotypes (in particular the C allele of theY402H variant) with AMD progression in a cohort of older AMD-affected Australians.

Methods:: Genotyping for alleles of the CHF gene was performed for 254 individuals aged between 51 and 89 years, who were assessed for AMD progression in the course of the Cardiovascular Health and Age Related Maculopathy (CHARM) study. The common allelic variants T and C of the CFH gene, variant Y402H, were derived using the MassArray Platform (SEQUENOM) through the Australian Genome Research Facility (AGRF) in Brisbane. AMD progression over an average of 7 years was assessed using stereoscopic macular photographs.

Results:: Genotype data were available on 233(92%) individuals of which 77(33%) cases had signs of AMD progression. The T allele frequency was 61% and the C allele frequency was 39%. AMD progression occurred in 26% of subjects with the TT genotype, 33% with the TC genotype and 49% with the CC genotype. There was a significant increase of risk of AMD progression in people with the CC compared to the TT genotype (odds ratio (OR) 2.66; 95% CI 1.23-5.74) in unadjusted logistic regression models. This association remained significant after further adjustment for age, gender, smoking, family history of AMD, study source and duration of follow up (OR 2.43;95% CI 1.07-5.49). The TC carriers were also at higher risk of AMD compared to carriers with the TT genotype, but the difference was not statistically significant (OR 1.4, 95% CI 0.72-2.71).

Conclusions:: The presence of a C allele of the CFH gene was associated with a significantly increased risk of AMD progression.

Keywords: age-related macular degeneration • genetics 
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