Rs10490924
From SNPedia
| age related macular degeneration |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10490924 |
| hapmap | rs10490924 |
| hgdp | rs10490924 |
| ensembl | rs10490924 |
| gopubmed | rs10490924 |
| scholar | rs10490924 |
| rs10490924 | |
| pharmgkb | rs10490924 |
| hgvbaseg2p | rs10490924 |
| medrefsnp | rs10490924 |
| 23andMe | rs10490924 |
| SNP Nexus |
| Gene | ARMS2 |
| Chromosome | 10 |
| Orientation | plus |
| Position | 124204437 |
| Genotype | Effect |
|---|---|
| rs10490924(G;G) | |
| rs10490924(G;T) | 2.7x risk for age related macular degeneration |
| rs10490924(T;T) | 8.2x risk for age related macular degeneration |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs10490924(G;G) | 00 | |
| Rs10490924(G;T) | 2.52.5 | 2.7x risk for age related macular degeneration |
| Rs10490924(T;T) | 3.53.5 | 8.2x risk for age related macular degeneration |
| | This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
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).[PMID 16174643]
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. [PMID 16174643]
A subsequent study indicated that the risk based on solely the ARMS2 SNP rs10490924 is significantly higher in smokers than in non-smokers. [PMID 16642439]
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.
[PMID 17884985] A likely biological mechanism is that the A69S change in the LOC387715/ARMS2 protein affects its presumptive function in mitochondria.
[PMID 18164066] rs10490924 and rs11200638 defined 2 significant haplotypes associated with increased risk of neovascular AMD.
[PMID 18400199] 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.
[PMID 18682806] An analysis of the joint effects of rs1061170, rs11200638 and rs10490924 on AMD
| Neighbor | rs11200638 |
| Distance | 6096 |
| ? | (G;G) (G;T) (T;T) |
|---|---|
|
| |
[PMID 19268887] ARMS2 (LOC387715) Variants in Japanese Patients with Exudative Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.
[PMID 19259132] Multilocus analysis of age-related macular degeneration.
[PMID 19255159] Age-Related Macular Degeneration Associated ARMS2 is not a Mitochondrial but Cytosolic Protein.
[PMID 19680273] ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population
[PMID 19797206] Susceptibility genes and progression in age-related maculopathy - a study of single eyes. The prospective Muenster Ageing and Retina Study (MARS)
[PMID 19796758] Comprehensive Analysis of Complement Factor H and LOC387715/ARMS2/HTRA1 Variants with Respect to Phenotype in Advanced Age-related Macular Degeneration
[PMID 19491722] Analyses of single nucleotide polymorphisms and haplotype linkage of LOC387715 and the HTRA1 gene in exudative age-related macular degeneration in a Chinese cohort
[PMID 19898184] Angiographic lesion size associated with loc387715 a69s genotype in subfoveal polypoidal choroidal vasculopathy
[PMID 19933195] Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10q26
| PharmGKB | PA161889387 |
| Name | |
| Annotation | In confirmation of other studies, rs10490924 was found to be significantly associated with risk of Age-related Macular degeneration in a Caucasian (White) case-control study. |
| Gene | HTRA1, ARMS2 |
| Featue | |
| Evidence | PubMed ID:17053109 |
| Drugs | |
| Diseases | Macular Degeneration |
| Curation Level | Curated |
[PMID 20157352] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population
[PMID 20182747] Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration