Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE Importantly, IL-8 mRNA expression was higher in UC and UCCP patients homozygous for the OCTN1 1672T variant compared to the other genotypes. 21793125 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 Biomarker disease BEFREE A statistically significant increase in the risk of UC was detected in a recessive model of inheritances for OCTN1 (OR = 1.23, 95% CI = 1.08-1.40, P < 0.001), OCTN2 (OR = 1.18, 95% CI = 1.05-1.33, P = 0.006), IGR2096a_1 (OR = 1.37, 95% CI = 1.15-1.62, P < 0.001) and IGR2198a_1 (OR = 1.35, 95% CI = 1.10-1.66, P = 0.004); the increased risks of UC were maintained in the adult and Caucasian subgroups, but not the pediatric subgroup. 21279723 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease 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
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 AlteredExpression disease BEFREE RUNX3, and OCTN1 expression in mucosal tissue from 30 patients (14 UC / 16 CD) and 6 controls were determined by quantitative polymerase chain reaction. 18668679 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE The SLC22A4 1672T allele frequency was 46.7% in the patients with UC and 46.4% in the controls, whereas the SLC22A5 -207C allele occurred in 48.8% of the patients and 51.4% of the controls. 17387389 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE The homozygous mutant OCTN1/2 haplotype was increased in IBD (24.3% v 16.1%, p = 0.02) and UC (28.2% v 16.1%, p = 0.02) compared with controls. 16469794 2006
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis. 16441470 2006
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE In the absence of the IBD5 risk haplotype, no association of OCTN1/2 variants with CD was detected.No associations were seen with UC. 16344054 2005
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE The polymorphisms in DLG5 (113 G-->A, 4136 C-->A, and DLG5_e26), SLC22A4 (1672 C-->T), and SLC22A5 (-207 G-->C) were assessed in 625 patients with Crohn's disease (CD), 363 patients with ulcerative colitis (UC), and 1012 healthy controls. 15955786 2005