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P. Fernandez, S. Recalde, M. Moreno, M. Altarriba, A. García-Layana; Different Association of Y402H and A69S Polymorphisms in Spanish Patients With Early and Wet Age-Related Macular Degeneration and Neovascular High Myopia. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2662. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
To determine if polymorphisms from complement factor H (CFH) and LOC387715 genes are associated with different forms of age-related macular degeneration (AMD) and choroidal neovascularization (CNV) related to high myopia in Spanish patients.
One hundred-seventy one patients with AMD, 100 patients with high myopia with CNV, and 151 healthy controls. The Y402H single nucleotide polymorphism (SNP) of the CFH gene was detected by polymerase chain reaction restriction fragment length SNP analysis; the A69S SNP of the LOC387715 gene was analyzed by TaqMan® SNP genotyping assay. The chi-square test and multivariate logistic regression were used to analyze the association.
The frequencies of risk alleles, C for Y402H and T for A69S, were significantly higher in patients with wet AMD versus controls by 2.2-fold (95% confidence interval [CI], 1.5-3.2; P=9.0x10-6) and 3.4-fold (95% CI, 2.3-5.0; P=6.6x10-11), respectively. Patients with early AMD only had significant differences in the C allele (odds ratio [OR], 1.6; 95% CI, 1.0-2.6; P=0.033). Individuals homozygous for the risk alleles had a significantly increased risk of neovascular AMD compared with controls of 7.7 fold (95% CI, 3.0-19.7; P=2.3x10-5) for Y402H and 11.8 fold (95% CI, 4.4-31.3; P=7.5x10-7) for A69S. The early AMD group only was associated with homozygosity for CFH Y402H SNP (OR, 3.9; 95% CI, 1.3-11.6), while those with CNV-high myopia did not have any significant differences in the allele and genotype frequencies compared with controls for any SNP.
Our data suggested that the SNPs Y402H on the CFH and A69S on LOC387715 genes were associated with AMD but not high myopia in a Spanish population. The association of AMD patients with both polymorphisms is unequal; Y402H is associated with early and wet AMD; meanwhile A69S is associated only with exudative AMD.
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