Have questions? Visit https://www.reddit.com/r/SNPedia

rs10818488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.1x increased risk for rheumatoid arthritis
(A;G) 1.4x increased risk for rheumatoid arthritis
(G;G) normal
ReferenceGRCh38 38.1/141
Chromosome9
Position120942809
GeneTRAF1
is asnp
is mentioned by
dbSNPrs10818488
ebirs10818488
HLIrs10818488
Exacrs10818488
Varsomers10818488
Maprs10818488
PheGenIrs10818488
hapmaprs10818488
1000 genomesrs10818488
hgdprs10818488
ensemblrs10818488
gopubmedrs10818488
geneviewrs10818488
scholarrs10818488
googlers10818488
pharmgkbrs10818488
gwascentralrs10818488
openSNPrs10818488
23andMers10818488
23andMe allrs10818488
SNP Nexus

SNPshotrs10818488
SNPdbers10818488
MSV3drs10818488
GWAS Ctlgrs10818488
GMAF0.4908
Max Magnitude
? (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 20205706OA-icon.png] 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 17880261OA-icon.png] 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 18434327OA-icon.png] 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 18648537OA-icon.png] A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2.


[PMID 18987647OA-icon.png] Rheumatoid arthritis: a view of the current genetic landscape.


[PMID 19302705OA-icon.png] Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.


[PMID 19445664OA-icon.png] Association of common polymorphisms in known susceptibility genes with rheumatoid arthritis in a Slovak population using osteoarthritis patients as controls.


[PMID 19674979OA-icon.png] 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 20353580OA-icon.png] 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