Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE Several studies have demonstrated that the organic cation/carnitine transporter 1 (<i>OCTN1</i>) non-synonymous variant L503F is associated with susceptibility to CD. 28066136

2017

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation 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

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 AlteredExpression BEFREE OCTN1 expression was higher in Crohn's disease patients with mutant homozygous or heterozygous genotypes (0.6% ± 0.1 vs 3% ± 0.8, resp., p<0.02). 22325173

2012

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 Biomarker BEFREE These data identify a new transport role for OCTN1 and raise the possibility that its involvement in the non-neuronal acetylcholine system may be relevant to the pathogenesis of Crohn's disease. 22206629

2012

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 AlteredExpression BEFREE We observed a 72% increase in gene expression of IRF1 among Crohn's disease patients (P=0.0006) and no significant difference in expression of OCTN1. 21816865

2012

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE This meta-analysis suggests that OCTN1/2 polymorphisms were associated with susceptibility of CD in the Caucasian population but not in the East Asian population. 21706137

2012

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE In the Czech population we examined its genetic association using variants of the SLC22A4 (rs1050152), SLC22A5 (rs2631367), two single nucleotide polymorphisms (SNPs) shown to be associated with CD in genome-wide studies (rs6596075 and rs2188962), and four SNPs previously shown to tag the haplotype blocks 4, 7, 9, 10 of the IBD5 locus (IGR2063b_1, IGR2230a_1, IGR100Xa_1, IGR3236a_1). 21674708

2011

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE In the subgroup analysis, the statistically significant associations were also observed in adult- and pediatric-onset CD and in Caucasians for five IBD5 variants and the OCTN1/2 TC haplotype. 21279723

2011

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE Our data suggest that SNPs and haplotype in the IBD5 SLC22A4/SLC22A5 region contribute to the development of particularly refractory Crohn's disease in the Slovenian population, and expression studies in blood lymphocytes and colon tissue biopsies and eQTL analysis suggest that SLC22A5 is the main gene in the IBD5 region contributing to the IBD pathogenesis. 21695374

2011

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE The OCTN1 rs1050152 is associated with CD (OR=1.745, 95% CI=1.019-2.990, χ²=4.129, p=0.042) and with IBD (OR=1.68, 95% CI=1.052-2.676, χ²=4.732, p=0.030); while the variant rs272879 is not associated with IBD, CD or ulcerative colitis (UC). 21122496

2010

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation 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

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE Case-control data on New Zealand Caucasians show no differences for CD risk between individuals carrying the L503F OCTN1 C-allele when compared with those carrying the variant T-allele. 19660151

2009

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE Patients with CD who had the OCTN1 susceptibility allele were more likely to carry 1 of the 3 NOD2/CARD15 SNPs tested (P = 0.01; odds ratio = 4.8). 19412005

2009

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation 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

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE We provide evidence for the genetic association of RUNX3 with UC and for CD with the IBD5 locus including SLC22A4/5. 18668679

2008

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE Genotyping included CARD15/NOD2 variants p.Arg702Trp, p.Gly908Arg, and p.Leu1007fsX1008 and polymorphisms in SLC22A4/OCTN1 (1672 C-->T) and SLC22A5/OCTN2 (-207 G-->C) as well as 10 CD-associated IL23R variants. 18162085

2008

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation 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

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE Using Phase II HapMap data, we demonstrate that there are a set of polymorphisms, spanning genes from prolyl 4-hydroxylase (P4HA2) through interferon regulatory factor 1 (IRF1) with equivalent statistical evidence of association to the reported SLC22A4 variant and that each, by itself, could entirely explain the IBD5 association to CD. 17213842

2007

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation LHGDN Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases. 17451203

2007

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE Variant allelic frequency of SLC22A4, 1672T (44% versus 36%, p=0.03, OR=1.4) and homozygosity for the SLC22A4, SLC22A5 TC haplotype (1672T, -207C) (21.3% versus 12%, p=0.03, OR=1.78, population attributable risk (PAR)=11%) were associated with CD. 17340776

2007

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation 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

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation 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

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation BEFREE Allele frequencies of the OCTN1/2 variants were significantly higher in IBD/CD cases (p<0.04). 16469794

2006

Entrez Id: 6583
Gene Symbol: SLC22A4
SLC22A4
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation LHGDN Two variants, 1672C>T in SLC22A4 and -207G>C in SLC22A5, were shown to alter these genes' functions and were identified as genetic susceptibility factors for Crohn's disease (CD). 16333318

2006