May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
The Association of Complement Factor H Polymorphism (CFH), Elongation of Very Long Chain Fatty Acids-Like 4 (ELOVL4) and Apolipoprotein E (ApoE) in Age-Related Macular Degeneration (AMD)
Author Affiliations & Notes
  • N. H. Khatibi
    Department of Ophthalmology, University of California, Irvine, Orange, California
  • S. Teymoorian
    Department of Ophthalmology, University of California, Irvine, Orange, California
  • M. Memarzadeh
    Department of Ophthalmology, University of California, Irvine, Orange, California
  • R. Narayanan
    LV Prasad Eye Institute, Banjara Hills, Hyderabad, India
  • D. Boyer
    Retina-Vitreous Associates Medical Group, Beverly Hills, California
  • V. Butani
    Department of Ophthalmology, University of California, Irvine, Orange, California
  • D. Kim
    Department of Ophthalmology, University of California, Irvine, Orange, California
  • B. D. Kuppermann
    Department of Ophthalmology, University of California, Irvine, Orange, California
  • A. Nesburn
    Cedar-Sinai Medical Center, Los Angeles, California
  • M. C. Kenney
    Department of Ophthalmology, University of California, Irvine, Orange, California
  • Footnotes
    Commercial Relationships N.H. Khatibi, None; S. Teymoorian, None; M. Memarzadeh, None; R. Narayanan, None; D. Boyer, None; V. Butani, None; D. Kim, None; B.D. Kuppermann, None; A. Nesburn, None; M.C. Kenney, None.
  • Footnotes
    Support Discovery Eye Foundation, Iris and B. Gerald Cantor Foundation, Research to Prevent Blindness Foundation;
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 3654. doi:
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      N. H. Khatibi, S. Teymoorian, M. Memarzadeh, R. Narayanan, D. Boyer, V. Butani, D. Kim, B. D. Kuppermann, A. Nesburn, M. C. Kenney; The Association of Complement Factor H Polymorphism (CFH), Elongation of Very Long Chain Fatty Acids-Like 4 (ELOVL4) and Apolipoprotein E (ApoE) in Age-Related Macular Degeneration (AMD). Invest. Ophthalmol. Vis. Sci. 2007;48(13):3654.

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

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Abstract

Purpose:: To determine if the CFH (T1277C; Tyr402His), ELOVL4 (Met299Val) and ApoE (alleles 2 and 4) variants have an association with our AMD population and establish if any additive associations exist between these genes.

Methods:: Total DNA was isolated from 155 AMD subjects and 229 age-matched control subjects. The CFH, ELOVL4 and ApoE genes were amplified by polymerase chain reaction and digested with Nla III, BspHI and Hha-1, respectively.

Results:: For the CFH gene a strong association was found between CC genotype and AMD (OR=3.45; 95% CI [1.90-6.27]; p=0.000025), while the TT was more prevalent in the control subjects (OR=0.312, 95% CI [0.194-0.50], p=0.0000). For the ApoE gene, allele 4 was more prevalent in the control subjects (OR=0.2659; 95% CI [0.115-0.614]; p=0.000427). Allele 2 had a higher incidence with the AMD patients (OR=1.09; 95% CI [0.673-1.767]; p=0.09). For the ELOVL4 gene, the Val/Met variant was more prevalent in the control subjects (OR=0.544; 95% CI [0.3116-0.95]; p=0.01), while the Met/Met variant was associated with the AMD patients (OR=1.876; 95% CI [1.084-3.244]; p=0.0076). The relative risk increased to 3.42 for subjects with TC genotype for CFH plus allele 2 for ApoE (OR=3.8, p<0.03) as compared to the TC genotype plus allele 4 for ApoE (OR=0.220, relative risk 0.25; p=0.22). The TT genotype for CFH plus Met/Met for ELOVL4 had an OR=4.418; 95% CI [0.9373-20.82]; p=0.04 versus TT genotype plus Val/Met (OR=0.2438; 95% CI 0.0516-1.1522; p=0.03).

Conclusions:: The data for individual genes suggest that allele C of CFH and allele 2 of ApoE are associated with increased incidence of AMD and that both the ELOVL4 variant (Met299Val) and allele 4 of the ApoE gene are protective against AMD. Moreover, there is an additive effect for higher incidence of AMD with subjects who have the C allele for CFH and allele 2 of ApoE simultaneously.

Keywords: age-related macular degeneration • clinical (human) or epidemiologic studies: risk factor assessment • gene/expression 
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