rs2032582, ABCB1

N. diseases: 97
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The estimated allele frequencies of functional polymorphisms in(of) exon 21 (2677 G>T, Ala893Ser) and exon 26(3435 C>T, Ilel 142I1e) of the MDR] gene were 0.42 and 0.46 in the controls and 0.54 (p=0.035) and 0.60 (p=0.017) in the MSI-H tumors. 11980438 2002
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.020 GeneticVariation BEFREE Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high microsatellite instability. 11980438 2002
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.020 GeneticVariation BEFREE The frequency of each individual SNPs; -41 A > G (intron -1), -145 C > G (exon 1), -129 T > C (exon 1), 1236 T > C (exon 12), 2677 G > T/A (exon 21), 3435 C > T (exon 26), and 4036 A > G (exon 28) did not differ between PD and controls. 15542248 2004
Balkan Nephropathy
CUI: C0004698
Disease: Balkan Nephropathy
0.010 GeneticVariation BEFREE The constitutional genotype frequencies of two SNPs (C3435T and G2677T) in the MDR1 gene in 112 healthy control subjects were investigated and compared with those of 96 patients with BEN. 14752243 2004
Ulcerative Colitis
CUI: C0009324
Disease: 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
Crohn Disease
CUI: C0010346
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
Ulcerative Colitis
CUI: C0009324
Disease: 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
Crohn Disease
CUI: C0010346
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
Crohn Disease
CUI: C0010346
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
Ulcerative Colitis
CUI: C0009324
Disease: 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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.040 GeneticVariation BEFREE In this study we have undertaken a meta-analysis of the available findings obtained with two SNPs polymorphism (C3435T and G2677T/A) in IBD; a significant association of 3435T allele and 3435TT genotype has been found with UC (OR = 1.17, P = 0.003 and OR = 1.36, P = 0.017, respectively). 16773678 2006
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE The mdr-1 polymorphism G2677T/A in exon 21 correlates with the paclitaxel response in ovarian cancer and may be important for the function of P-glycoprotein and resistance to paclitaxel and provide useful information for individualized therapy. 16467099 2006
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE The current results taken together suggest that, aside from other known causes of lung cancer, such as tobacco smoke, the existence of polymorphisms in the ABCB1 gene and, specifically, the presence of the G2677T mutation can be crucial in conferring susceptibility to lung cancer. 17120199 2006
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.020 GeneticVariation BEFREE The current results taken together suggest that, aside from other known causes of lung cancer, such as tobacco smoke, the existence of polymorphisms in the ABCB1 gene and, specifically, the presence of the G2677T mutation can be crucial in conferring susceptibility to lung cancer. 17120199 2006
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.020 GeneticVariation BEFREE The current results taken together suggest that, aside from other known causes of lung cancer, such as tobacco smoke, the existence of polymorphisms in the ABCB1 gene and, specifically, the presence of the G2677T mutation can be crucial in conferring susceptibility to lung cancer. 17120199 2006
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.020 GeneticVariation BEFREE The present study was therefore designed to examine whether the major polymorphisms of MDR1 gene, C3435T and G2677T/A are related to therapeutic response to neuroleptics in the treatment of schizophrenia. 16386826 2006
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.010 GeneticVariation BEFREE Our findings suggest that the MDR1 2677G>T and 3435C>T polymorphisms can be used for predicting treatment response to etoposide-cisplatin chemotherapy in SCLC patients. 16478794 2006
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE The mdr-1 polymorphism G2677T/A in exon 21 correlates with the paclitaxel response in ovarian cancer and may be important for the function of P-glycoprotein and resistance to paclitaxel and provide useful information for individualized therapy. 16467099 2006
Familial hypercholesterolemia - heterozygous
0.010 GeneticVariation BEFREE Twenty children with HeFH (aged 4.9-15.6 years) and 12 cardiac transplant recipients (aged 4.4-18.7 years and receiving triple immunosuppressive medication) who had participated in previous pharmacokinetic and pharmacodynamic studies with pravastatin were genotyped for the -11187G > A and 521T > C SNPs in the SLCO1B1 gene and for the 2677G > T/A and 3435C > T SNPs in the ABCB1 gene. 16722833 2006
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.010 GeneticVariation BEFREE The mdr-1 polymorphism G2677T/A in exon 21 correlates with the paclitaxel response in ovarian cancer and may be important for the function of P-glycoprotein and resistance to paclitaxel and provide useful information for individualized therapy. 16467099 2006
Epilepsy
CUI: C0014544
Disease: 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
Ulcerative Colitis
CUI: C0009324
Disease: 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
Ulcerative Colitis
CUI: C0009324
Disease: 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
Crohn Disease
CUI: C0010346
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
Crohn Disease
CUI: C0010346
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