Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE On the other hand, C allele and CC genotype of C1236T and C3435T, as well as G allele and GG genotype of G2677T/A were more frequent in healthy subjects, implying protective role of these variants in UC. 29543864

2018

dbSNP: rs2032582
rs2032582
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.080 GeneticVariation BEFREE The G2677T T and C3435T T alleles as well as the TT, CTT and TTT haplotypes seemed to be significantly associated with drug-resistance epilepsy in our population. 29198163

2018

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE Similarly, the genotype distribution of 3435C>T and 2677G>T/A SNPs was not significantly different between Polish and Bosnian patients with CD (p > 0.05). 28759738

2017

dbSNP: rs2032582
rs2032582
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.080 GeneticVariation BEFREE rs776746 and rs15524 in the CYP3A5 gene tend to affect CBZ metabolism, and rs2032582, rs10234411 in the ABCB1 gene may contribute to inter-individual variation in CBZ and in CBZ-E transport among patients with epilepsy using CBZ in combination with PHT or PB. 26421491

2015

dbSNP: rs2032582
rs2032582
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.080 GeneticVariation BEFREE The association between the non-synonymous polymorphism G2677T/A in the coding region of the ABCB1 gene, and the risk of resistance to anti-epileptic drugs (AEDs) in epilepsy remains controversial. 26220385

2015

dbSNP: rs2032582
rs2032582
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.080 GeneticVariation BEFREE Our results suggest that MDR1 C3435T and G2677T/A polymorphisms are not associated with AED resistance in Turkish epileptic patients. 24213830

2014

dbSNP: rs2032582
rs2032582
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.080 GeneticVariation BEFREE No significant association was found between G2677T/A polymorphism and epilepsy drug resistance in the different subgroups of patients. 21636342

2011

dbSNP: rs2032582
rs2032582
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.080 GeneticVariation BEFREE In this study, we analyzed whether the three single nucleotide polymorphisms (C1236T, G2677T/A, and C3435T) in the ABCB1 gene were associated with pharmacoresistant epilepsy in a western Chinese pediatric population. 21420937

2011

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE Two common single nucleotide polymorphisms (SNPs), C3435T and G2677T/A, thought to alter the function of the corresponding P-glycoprotein, have shown inconsistent associations with CD. 19107781

2009

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE Heterozygous carriers for the variants C1236T, rs2235046 (an SNP in intron 16), and G2677T/A showed a lower risk of developing ulcerative colitis (C1236T: odds ratio [OR] = 0.63, 95% confidence interval [CI] = 0.42-0.93, P = 0.03; G2677T/A: OR = 0.59, CI = 0.39-0.89, P = 0.02; and rs2235046: OR = 0.59, 95% CI = 0.38-0.91, P = 0.009) as compared with homozygotes. 19685447

2009

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE Three-marker (C1236T, G2677T/A, C3435T) and two-marker (C1236T, G2677T/A) haplotype analysis revealed significant associations with UC (TTT, P=0.04; TGT, P=0.01; TT, P=0.01; CT, P=0.03). 19005421

2009

dbSNP: rs2032582
rs2032582
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.080 GeneticVariation BEFREE Our aim was to investigate the effect of the 1236C>T(rs1128503), 2677G>T/A(rs2032582), and 3435C>T(rs1045642) single-nucleotide polymorphisms of ABCB1 (or MDR1) on drug resistance in north Indian patients with epilepsy. 18812236

2009

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE In this study, the G2677T/A polymorphism observed in the MDR1 gene was not found to be a risk factor for Crohn's disease or ulcerative colitis. 19115152

2008

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE No significant difference was observed for genotype frequencies for both MDR1 G2677T/A and C3435T polymorphisms on overall disease susceptibility for either CD or UC patients compared with control subjects. 17260353

2007

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE No significant association between G2677T/A polymorphism and any specific subphenotypes was found, nor was there any association with subphenotypic categories of UC and both single nucleotide polymorphisms. 17260353

2007

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE To investigate the contribution of multidrug resistance 1 (MDR1) gene pharmacogenetics (G2677T/A and C3435T) to the efficacy of azathioprine in inducing remission in patients with Crohn's disease (CD). 17262810

2007

dbSNP: rs2032582
rs2032582
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.080 GeneticVariation BEFREE Further analysis using a logistic regression model revealed that only 2677G>T and 3435C>T in the ABCB1 gene and their interaction term were associated with drug-resistant epilepsy after adjustment for etiology and epilepsy classification. 17924830

2007

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE The distribution of the different genotypes of single nucleotide polymorphisms (SNP) G2677T/A and C3435T of MDR1 exons 21 and 26, respectively, was studied in 154 patients (mean age, 44 yr) who had received CsA to treat severe attacks of steroid resistant UC in 11 centers in France and Belgium. 17206635

2007

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE The polymorphism Ala893Ser/Thr (G2677T/A) previously showed significant association with Crohn's disease (CD) and the Ile1145Ile (C3435T) with ulcerative colitis (UC). 16374256

2006

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE The polymorphism Ala893Ser/Thr (G2677T/A) previously showed significant association with Crohn's disease (CD) and the Ile1145Ile (C3435T) with ulcerative colitis (UC). 16374256

2006

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation BEFREE Two polymorphisms (C3435T and G2677T/A) of the multidrug resistance 1 gene have been correlated with the altered P-glycoprotein expression and function in humans, and associated with predisposition to ulcerative colitis and Crohn's disease. 16305727

2005

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation BEFREE Two polymorphisms (C3435T and G2677T/A) of the multidrug resistance 1 gene have been correlated with the altered P-glycoprotein expression and function in humans, and associated with predisposition to ulcerative colitis and Crohn's disease. 16305727

2005

dbSNP: rs2032582
rs2032582
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.080 GeneticVariation 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

dbSNP: rs2032582
rs2032582
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 GeneticVariation 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

dbSNP: rs2032582
rs2032582
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE We observed that the ABCB1 C3435T and G2677T/A variants as well as the 3435T-1236T-2677T haplotype significantly increased the risk of CRC. 23746184

2013