Rs10490924

rs10490924 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 &#215; 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.

Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism.

The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples.

An update on the genetics of age-related macular degeneration.

The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration.

HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration.

HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration.

LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population.

Genome-wide association with bone mass and geometry in the Framingham Heart Study.

Genome-wide association with bone mass and geometry in the Framingham Heart Study.

Genetic markers and biomarkers for age-related macular degeneration.

Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.

Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration.

PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.

Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.

Prevalence of common disease-associated variants in Asian Indians.

HTRA1 polymorphism in dry and wet age-related macular degeneration.

CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration.

Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.

C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

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.

Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.

Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.

Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy.

A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report.

Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus.

Association of genetic polymorphisms and age-related macular degeneration in chinese population.