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From SNPedia

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
is asnp
is mentioned by
dbSNP (classic)rs10818488
1000 genomesrs10818488
GWAS Ctlgrs10818488
Max Magnitude0
? (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

[PMID 31570557OA-icon.png] Association of TRAF1/C5 locus polymorphisms with epilepsy and clinical traits in Mexican neurocysticercosis patients.