NOTE: information for rs1050152 was accidentally entered for this SNP, rs3792876. Although the SNPs are in the same gene, the original reference does not specifically refer to rs3792876 and the degree of linkage has not been confirmed.
rs1051052, a SNP in the SLC22A4 gene known as L503F, has been associated with an autoimmune disease, in this case, Crohn's disease, odds ratio = 2.1 (CI = 1.31â€“3.39, p = 0.002), based on a study of 203 cases and 200 controls. The risk allele is rs1050152(T).[PMID 15107849]
[PMID 15751072] Investigation of the SLC22A4 gene (associated with rheumatoid arthritis in a Japanese population) in a United Kingdom population of rheumatoid arthritis patients.
[PMID 16519819] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
[PMID 16796743] Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.
[PMID 17476680] Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease.
[PMID 19840389] Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria.
[PMID 19956108] Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.
[PMID 20444268] Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.
[PMID 25707686] Association of joint erosion with SLC22A4 gene polymorphisms inconsistently associated with rheumatoid arthritis susceptibility