Rs10818488

From SNPedia

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 = 1.29 × 10−3). Combining data from all 2,000 patients, the odds ratio associated with rs10818488(A) is 1.26 (CI 1.15–1.37, pcombined = 1.40 × 10−8) 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