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T. Yasuma, M. Nakamura, M. Kikuchi, K. Ishikawa, H. Nishihara, H. Kaneko, K. M. Nishiguchi, H. Terasaki; Association of c.*372_815del443ins54 Polymorphism in the ARMS2 (LOC387715) Gene With Neovascular Age-Related Macular Degeneration (AMD) and Polypoidal Choroidal Vasculopathy (PCV) in a Japanese Population. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3436.
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© ARVO (1962-2015); The Authors (2016-present)
To report the association between a deletion-insertion (delins) polymorphism in the ARMS2 (LOC387715) gene, c.*372_815del443ins54, in Japanese patients with neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV). The associations between the delins polymorphism and other AMD-related single nucleotide polymorphism (SNP) in the same chromosomal locus, rs10490924 (ARMS2 A69S) and rs11200638 (HTRA1 promoter), were examined.
One-hundred and eighty-six patients with neovascular AMD, 100 patients with PCV, and 138 control subjects without any macular abnormality were studied. Genomic DNA was extracted from peripheral blood, and the delins polymorphism was analyzed by direct sequencing and/or polymerase chain reaction (PCR) methods. The genotypes were compared between patients with AMD or PCV and control groups. The associations between each genotype and the risk of the diseases were examined after backgrounds such as gender and age were adjusted using logistic regression analysis by computing the odds ratios (ORs) and 95% confidence intervals (CIs). The genotypes for the delins polymorphism, rs10490924, and rs11200638 were compared in these participants, and the measure of linkage disequilibrium, D', was caluculated.
The allele frequencies of the delins polymorphism in patients with AMD (64%) and PCV (53%) were significantly higher than that in control subjects (38%, p<0.05 for each). Heterozygosity and homozygosity for the delins polymorphism were associated with AMD (OR[95% CI]; 1.88[1.15-3.09] and 7.73[4.50-13.27], respectively), and homozygosity for the polymorphism was associated with PCV (3.56[1.89-6.68]). The delins polymorphism was in complete linkage disequilibrium with rs10490924 and rs11200638 (D'= 0.975 and 0.990, respectively).
The c.*372_815del443ins54 polymorphism in the ARMS2 (LOC387715) gene is frequently present Japanese population. It is strongly associated with AMD and PCV, being in complete linkage disequilibrium with SNPs rs10490924 and rs11200638, in the Japanese population.
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