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M. Nakamura, T. Yasuma, M. Kikuchi, K. Ishikawa, H. Nishihara, T. Yamakoshi, H. Kaneko, K. Nishiguchi, H. Terasaki; Association of Single Nucleotide Polymorphisms in the HTRA1, LOC387715, and CFH Genes With Neovascular Age-Related Macular Degeneration (AMD) and Polypoidal Choroidal Vasculopathy (PCV) in a Japanese Population. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2664.
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© ARVO (1962-2015); The Authors (2016-present)
To report the association between the single nucleotide polymorphisms (SNPs) in the HTRA1, LOC387715, and complement factor H (CFH) genes in Japanese patients with neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV).
One-hundred and eighty-six patients with neovascular AMD, 100 patients with PCV, and 424 control subjects without any macular abnormality were studied. Genomic DNA was extracted from peripheral blood, and the SNPs in the HTRA1 promoter (rs11200638), LOC387715 region (rs10490924), and CFH (Y402H), were analyzed by direct sequencing. 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).
For the HTRA1 variant, the frequencies of genotypes of AA, AG, GG were 0.467, 0.350, 0.183, respectively, among the AMD group, 0.300, 0.450, 0.250, respectively, among the PCV group, and 0.134, 0.479, 0.397, respectively, among the control subjects. There were statistical differences between the disease groups and the control group (p<0.001). Homozygosity for the risk allele (AA genotype) were associated with both AMD (OR[95% CI]; 9.24[5.03-16.83] and PCV (3.70[1.87-7.34]). For the LOC387715 variant, similar results were obtained and the homozygosity for the risk allele (TT genotype) were strongly associated with both AMD (9.34[5.08-17.17]) and PCV (3.83[1.93-7.58]). For the CFH variant, the frequencies of genotypes of CC, CT, TT were 0, 0.194, 0.807, respectively, among the AMD group, 0.030, 0.170, 0.800, respectively, among the PCV group, and 0.003, 0.109, 0.888, respectively, among the control subjects. Homozygosity or heterozygosity for the risk allele (CC or CT genotypes) was associated with AMD (1.97[1.11-3.50]) as well as with PCV (2.28[1.15-4.31]).
All of the SNPs in the HTRA1, LOC387715, and CFH genes were associated with both neovascular AMD and PCV in the Japanese population.
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