rs10490924

rs10490924, also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). Odds ratios for heterozygotes and homozygotes are, respectively, 2.69 (CI: 2.22-3.27) and 8.21 (CI: 5.79-11.65). Disease risk in combination with the rs1061170 SNP in the CFH gene is dramatically increased. Homozygotes for both the rare/risk alleles at both loci are estimated to be at 57 fold higher risk for age related macular degeneration than individuals homozygous for the common alleles at both loci. A subsequent study indicated that the risk based on solely the ARMS2 SNP rs10490924 is significantly higher in smokers than in non-smokers. Based on a study of ~750 patients, rs10490924 is significantly higher in participants with choroidal neovascularization than in those with geographic atrophy (odds ratio 1.37, CI: 1.21-1.54, p = 4.2 × 10(-7)). Note that this SNP is completely predictive (ie is in perfect linkage disequilibrium) with rs11200638, thus the status of one predicts the status of the other. A likely biological mechanism is that the A69S change in the LOC387715/ARMS2 protein affects its presumptive function in mitochondria. rs10490924 and rs11200638 defined 2 significant haplotypes associated with increased risk of neovascular AMD. In comparison with wild-type homozygosity (G;G), homozygosity for the at-risk allele genotype (T;T) increased the likelihood for polypoidal choroidal vasculopathy (PCV) 8.4-fold (CI: 3.6-19.5) and heterozygosity for the at-risk allele genotype (G;T) increased the risk for PCV 4x (CI: 1.9-8.4), based on a study of ~100 Japanese patients. An analysis of the joint effects of rs1061170, rs11200638 and rs10490924 on AMD Susceptibility genes for age-related maculopathy on chromosome 10q26. 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Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. Combining identity by descent and association in genetic case-control studies. Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population. Polymorphisms in the LOC387715/ARMS2 putative gene and the risk for Alzheimer's disease. Molecular pathology of age-related macular degeneration. Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration. Sequence variants in HTRA1 and LOC387715/ARMS2 and phenotype and response to photodynamic therapy in neovascular age-related macular degeneration in populations from Israel. Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study. Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers. Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration. CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD. A particle swarm based hybrid system for imbalanced medical data sampling. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. Risk factors for age-related maculopathy. C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy. LOC387715/HTRA1 polymorphisms, smoking and combined effects on exudative age-related macular degeneration in a Korean population. Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Monozygotic twins with polypoidal choroidal vasuculopathy. Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision. Elevated C-reactive protein levels and ARMS2/HTRA1 gene variants in subjects without age-related macular degeneration. Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy. 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