rs10818488
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.1x increased risk for rheumatoid arthritis | |
| (A;G) | 1.4x increased risk for rheumatoid arthritis | |
| (G;G) | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 120942809 |
| Gene | TRAF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10818488 |
| dbSNP (classic) | rs10818488 |
| ClinGen | rs10818488 |
| ebi | rs10818488 |
| HLI | rs10818488 |
| Exac | rs10818488 |
| Gnomad | rs10818488 |
| Varsome | rs10818488 |
| LitVar | rs10818488 |
| Map | rs10818488 |
| PheGenI | rs10818488 |
| Biobank | rs10818488 |
| 1000 genomes | rs10818488 |
| hgdp | rs10818488 |
| ensembl | rs10818488 |
| geneview | rs10818488 |
| scholar | rs10818488 |
| rs10818488 | |
| pharmgkb | rs10818488 |
| gwascentral | rs10818488 |
| openSNP | rs10818488 |
| 23andMe | rs10818488 |
| SNPshot | rs10818488 |
| SNPdbe | rs10818488 |
| MSV3d | rs10818488 |
| GWAS Ctlg | rs10818488 |
| GMAF | 0.4908 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs10818488, a SNP located in between the C5 and TRAF1 genes, was identified as the SNP from this region showing maximal association with rheumatoid arthritis in a study of ~2000 Dutch, Swedish, and American patients. This study also reported that this SNP was significantly (p = 0.008) associated with increased disease progression as determined by radiographic damage over time in rheumatoid arthritis patients. 10.1371/journal.pmed.0040278
The risk allele for rs10818488 is the minor allele, (A). If (and as) reported from just the Dutch RA patients, the odds ratio associated with rs10818488(A;G) heterozygotes is 1.38 (CI 1.04-1.83, p = 0.027) and with rs10818488(A;A) homozygotes 2.06 (95% CI 1.42-2.98, p = 1.29E-3). Combining data from all 2,000 patients, the odds ratio associated with rs10818488(A) is 1.26 (CI 1.15-1.37, pcombined = 1.40E-8) with a population attributable fraction (or risk) of 6.1% (CI 4.0-8.5).
A study of RA patients from Crete also found that the rs10818488(A) allele represented increased risk for rheumatoid arthritis.[PMID 18625278]
A further study of 1,356 western Europeans confirmed the association between the rs10818488(A) allele and rheumatoid arthritis, finding that individuals with this allele have a 1.2x increased risk for the disease (CI: 1.04-1.5).[PMID 18759306]
[PMID 18593758] The rs10818488(A) allele was associated with the susceptibility to rheumatoid factor-negative polyarthritis with an 11% increase in allele frequency (OR 1.54, CI: 1.09 to 2.18, p = 0.012) in a study of 338 Caucasian patients with juvenile idiopathic arthritis.
Note that rs10818488 is reported to be in complete (100%) linkage disequilibrium with rs2416808, in other words, the genotype of one perfectly predicts the other.
[PMID 19433411] The TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseases
[PMID 19336421] Association study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese
[PMID 20205706
] TRAF1/C5 polymorphism is not associated with increased mortality in rheumatoid arthritis; two large longitudinal studies
[PMID 20030635] The TRAF1/C5 locus confers risk for familial and severe alopecia areata
[PMID 21968398] TRAF1/C5, eNOS, C1q, but not STAT4 and PTPN22 gene polymorphisms are associated with genetic susceptibility to systemic lupus erythematosus in Turkey
[PMID 17880261] A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis.
[PMID 18432273] STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians.
[PMID 18434327] Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility.
[PMID 18648537] A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2.
[PMID 18987647] Rheumatoid arthritis: a view of the current genetic landscape.
[PMID 19302705] Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.
[PMID 19445664] Association of common polymorphisms in known susceptibility genes with rheumatoid arthritis in a Slovak population using osteoarthritis patients as controls.
[PMID 19674979] Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.
[PMID 19918040] Lack of association between TRAF1/C5 gene polymorphisms and biopsy-proven giant cell arteritis.
[PMID 20353580] Evaluation of the rheumatoid arthritis susceptibility loci HLA-DRB1, PTPN22, OLIG3/TNFAIP3, STAT4 and TRAF1/C5 in an inception cohort.
[PMID 24234752] Association between polymorphism in TRAF1/C5 gene and risk of rheumatoid arthritis: a meta-analysis
[PMID 22820624] Associations between TNFSF4 and TRAF1-C5 gene polymorphisms and systemic lupus erythematosus: a meta-analysis.
[PMID 23321589] Association study of TRAF1/C5 polymorphism (rs10818488) with susceptibility to rheumatoid arthritis and systemic lupus erythematosus: a meta-analysis.
[PMID 23777930] Investigation of juvenile idiopathic arthritis susceptibility loci: results from a Greek population.
[PMID 25500258] TRAF1/C5 rs10818488 polymorphism is not a genetic risk factor for acquired aplastic anemia in a Chinese population
[PMID 31570557] Association of TRAF1/C5 locus polymorphisms with epilepsy and clinical traits in Mexican neurocysticercosis patients.
