TBC1D9, TBC1 domain family member 9, 23158

N. diseases: 491; N. variants: 11
Source: ALL
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 MDR1 gene variants and haplotypes were associated with UC in Serbian IBD patients, further supporting their potential role in susceptibility to UC. 29543864 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE The current study suggests that CYP2D6*4 and MDR1 3435 C/T gene polymorphisms may be risk factors for UC susceptibility. 30551694 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 Biomarker disease BEFREE Here, we found that protein expression of ABCB1 (ATP Binding Cassette Subfamily B Member 1) / MDR1 (multidrug resistance 1) was diminished in the intestinal mucosa of patients with active UC with or without CAC, but not in non-UC patients with sporadic colon cancer. 28686677 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE The correlations between SNPs of CTLA-4 gene, MDR1 gene and the risk of UC were evaluated by OR at 95%CI. 26379408 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE Besides, stratified analysis by clinical type also indicated that no significant association between MDR1 C3435T and the risk of Crohn's disease and ulcerative colitis was observed. 24449364 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE Finally, active UC in patients carrying the TLR2-R753Q and MDR1-C3435T polymorphisms was associated with increased nuclear expression of caspase-1 protein and cell death in areas of acute inflammation, compared with active UC patients without these variants. 23636052 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE MDR1 polymorphisms are associated with both CD and UC with a stronger association with UC. 23537364 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE The expression level of the ABCB1/MDR1 gene which encodes P-glycoprotein seems to be of great prognostic relevance while evaluating patients' susceptibility to UC or CD. 22661185 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE The polymorphism located in intron 3 of the MDR1 gene showed a weak association with CD, and a marginally suggestive association with UC. 18819034 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 Biomarker disease BEFREE The results of our study support the role of MDR1 as a candidate gene for ulcerative colitis. 19685447 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE We investigated whether common MDR1 variants were associated with UC in the genetically heterogeneous North Indian population. 19005421 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE We investigated DNA methylation of the MDR1 gene in ulcerative colitis (UC) and its relation to MDR1 C3435T genotypes.Eighty-three UC patients were enrolled. 19288029 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 AlteredExpression disease BEFREE Expression of both efflux transporters BCRP and MDR1 is reduced, but only in inflamed tissue of patients with active UC. 19052456 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE We tried to determine the frequency of C3435T polymorphism of the MDR1 gene in Iranian patients with ulcerative colitis and to compare it with a healthy control population. 17242936 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE With the genotype/phenotype analysis, no correlation in patients with UC with the MDR1 gene was found. 17255827 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE A total of 211 patients with Crohn's disease (CD), 97 patients with ulcerative colitis (UC), and 212 control subjects were investigated for the presence of MDR1 G2677T/A and C3435T polymorphisms. 17260353 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE In patients with extensive UC a significantly different distribution of genotypes of the MDR1 G/A change located in intron 3 (rs3789243) was observed between carriers/noncarriers of the -25385T risk allele (P = 0.005). 17828778 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 AlteredExpression disease BEFREE MDR1 mRNA levels in uninflamed colon of UC patients were comparable to healthy controls, while they were slightly decreased in ileum and slightly increased in colon of CD patients. 17262809 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE The TT genotype of exon 21 MDR1 polymorphisms is associated with a higher risk of CsA failure in patients with steroid resistant UC. 17206635 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE Three hundred eighty-eight German IBD patients [244 with Crohn's disease (CD), 144 with ulcerative colitis (UC)] and 1,005 German healthy controls were genotyped for the two MDR1 SNPs on positions 2677G>T/A and 3435C>T. 17665184 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE MDR1 C3435T polymorphism is predictive of later onset of ulcerative colitis in Japanese. 16462040 2006
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE This 'candidate gene' approach provides compelling evidence to support the contribution of the ABCB1/MDR1 gene in determining risk to UC but not to CD and provides new insights into the localization of the critical susceptibility determinants within the gene. 16434479 2006
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE Therefore, considering our results and those from others, the MDR1 gene behaves as a common risk factor for both CD and UC. 16374256 2006
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease BEFREE This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-characterized Scottish white cohort (335 with ulcerative colitis [UC], 268 with Crohn's disease [CD], and 370 healthy controls). 15685540 2005
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 AlteredExpression disease BEFREE The amounts of MDR1 mRNA in PBMCs of UC patients having experienced GC therapy significantly correlated with the total dose of GCs administered (p = 0.0175). 15102868 2004