SLC22A4, solute carrier family 22 member 4, 6583

N. diseases: 90; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease LHGDN Replication of reported genetic associations of PADI4, FCRL3, SLC22A4 and RUNX1 genes with rheumatoid arthritis: results of an independent Japanese population and evidence from meta-analysis of East Asian studies. 18087673 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease LHGDN An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. 14608356 2003
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Three specific single-nucleotide polymorphisms (SNPs) have been reported to associate with RA and CD and to change the functional activity of two organic cation transporters, solute carrier family 22 member 4/5 (SLC22A4) and (SLC22A5). 16484987 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE SLC22A4 polymorphism and rheumatoid arthritis susceptibility: a replication study in a Japanese population and a metaanalysis. 18709696 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Data of the current study do not confirm the universal and population independent susceptibility role of the SLC22A4 C6607T and RUNX1 G24658C variants for rheumatoid arthritis; furthermore, the data presented here show, that there are no significant carnitine-metabolism associated functional consequences of the different genotypes evidenced by the lack of detectable differences in the carnitine ester profiles. 18328148 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE In particular, a functional single-nucleotide polymorphism (SNP) mapping to intron 1 of the organic cation transporter 1 (OCTN1; SLC22A4) gene was associated with RA in a Japanese population, and a haplotype of a different SNP in the same gene and one in an adjacent gene, OCTN2 (SLC22A5), was associated with CD. 15751072 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Variants of the SLC22A4 gene are associated with susceptibility to rheumatoid arthritis and Crohn's disease. 15795384 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Moreover, it has been shown that multiple genetic variants in one pathway (both in a transcription factor, RUNX-1, as in the transcription factor binding site of RUNX1 in the SLC22A4 gene) can each confer very small risks but by gene-gene interactions can confer a ninefold risk for rheumatoid arthritis. 15838240 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE The SLC22A4 and RUNX1 polymorphisms described as etiological in the Japanese study did not show a significant role in RA susceptibility in our population. 16652416 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analyzed do not confer a relevant role in susceptibility to RA in the Spanish population. 16821265 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE In addition, although the mechanism is not clear, single nucleotide polymorphisms of OCTN1 and OCTN2 genes are associated with increased incidences of rheumatoid arthritis, Crohn's disease and asthma. 22952014 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Overall, this study provided evidence that SLC22A4 gene polymorphisms played important roles in the etiology of RA in the largest Asian population, the Chinese population. 24599653 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease LHGDN No influence of SLC22A4 C6607T and RUNX1 G24658C genotypic variants on the circulating carnitine ester profile in patients with rheumatoid arthritis. 18328148 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease LHGDN SLC22A4 polymorphism and rheumatoid arthritis susceptibility: a replication study in a Japanese population and a metaanalysis. 18709696 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE Single nucleotide polymorphisms (SNPs) of Solute carrier family 22, member 4 (SLC22A4) have been shown to be associated with several autoimmune diseases, including Crohn's disease (CD) and rheumatoid arthritis (RA). 26329403 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 GeneticVariation disease BEFREE We used a case-control approach to investigate the prevalence of these variants in a Canadian RA cohort and to determine whether RA and Crohn's disease share SLC22A4 susceptibility alleles. 15693005 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE A major role in adult Crohn's disease (CD) has been defined for 3 polymorphisms in the CARD15 gene, whereas variants in the SLC22A4, SLC22A5, and DLG5 genes could have a minor contribution to IBD susceptibility. 16670523 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95% CI = 1.34-4.75); (Arg702Trp, OR = 6.65, 95% CI = 1.99-22.17); (1007fs, OR = 9.59, 95% CI = 3.94-23.29), and a weak association between both the protective OCTN1/OCTN2 CC haplotype (OR = 0.28, 95% CI = 0.08-0.94), and a variant of ATG16L1 gene (Thr300Ala, OR = 0.468, 95% CI = 0.24-0.90) with Crohn's disease. 18715515 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE We validated these candidate genes in Japanese patients with CD and found a weak but possible association with both SLC22A4 (P=0.028) and DLG5 (P=0.023). 15503241 2004
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease LHGDN These results suggest that SLC22A4, SLC22A5 and CARD15 act in a common pathogenic pathway to cause Crohn disease. 15107849 2004
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE IL23R is an IBD susceptibility gene, but has no epistatic interaction with CARD15 and SLC22A4/5. rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC. 17786191 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE There was a significant difference in the allele frequency (0.444 vs 0.519; P = 0.041) of the 1672T polymorphism in the SLC22A4 gene between controls and patients with CD. 16519742 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Association with 11 SNPs spanning the SLC22A4 and SLC22A5 genes, including a putative RA-causing functional polymorphism (rs3792876 [slc2f2]) and a functional haplotype previously associated with CD, was investigated in 909 RA cases and 594 population controls in the UK. 15751072 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Two of the loci are related to common chronic inflammatory diseases: the first, at locus 5q31.1 (SLC22A5, SLC22A4, IRF1), lies immediately adjacent to a locus linked to Crohn disease (P value for lead SNP, 1.24 x 10(-12)) and the second, at locus 17q25.1 (CD300LF, SLC9A3R1, NAT9), has been associated with psoriasis (P value for lead SNP, 7.72 x 10(-11)). 20031577 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Collectively, our results suggest that the 1672T variant of the OCTN1 gene and the -207C variant of the OCTN2 gene represent risk factors for CD in the Greek population. 16437728 2005