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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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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.
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.
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).
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.
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