rs2032582, ABCB1

N. diseases: 97
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE The aim of the present study is to genotype the MDR1 2677G>T (rs2032582) and 3435C>T (rs1045642) polymorphism in patients with colorectal cancer and controls and to identify a possible association between individual genetic variation and susceptibility to colorectal cancer. 17674045 2008
Colorectal Carcinoma
CUI: C0009402
Disease: 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE In particular, carriers of the T/T genotype in exon 12 (1236 C-->T) SNP and the T/T genotype in exon 21 (2677G-->T) SNP were most significantly associated with a higher risk for developing MSI-H CRC compared to controls (P=0.01, OR=3.182 and P=0.005, OR=3.594, respectively). 18474294 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE Differences in ABCB1 (1236C>T) and ABCB1 (2677G>T/A) genotypes and T(1236) allele distribution between investigated populations indicate significant impact of these SNPs on risk of development of colorectal cancer. 19415305 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE Compared with the ABCB1 gene SNPs rs1045642, rs2032582 or rs3789243 alone, combined haplotypes of several SNPs might be a better marker to determine the genetic influence on the susceptibility to colorectal cancer among Caucasians. 23279665 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE To analyse the single-nucleotide polymorphisms (SNPs): ABCB1(1236C>T), ABCB1(2677G>T/A), ABCB1(3435C>T) and haplotypes in the ABCB1/MDR1 gene, which could contribute to genetic risk of colorectal cancer (CRC). 20533057 2010
Neutropenia
CUI: C0027947
Disease: Neutropenia
0.050 GeneticVariation BEFREE In toxicity, the 2677G/T or A was associated with grade 4 neutropenia. 17534875 2007
Leukopenia
CUI: C0023530
Disease: Leukopenia
0.050 GeneticVariation BEFREE Delayed time to neutropenia recovery was observed with ABCB1 rs2032582 variant (p = .047). 27701910 2017
Leukopenia
CUI: C0023530
Disease: Leukopenia
0.050 GeneticVariation BEFREE On evaluating higher order gene-gene interaction models by MDR analysis, CYP3A5*3; ABCB11236C>T and ABCB1 2677G>T/A; ABCB1 3435C>T and CYP1B1*3 showed significant association with treatment response, grade 2-4 anemia and dose delay/reduction due to neutropenia (P=0.024, P=0.004, P=0.026), respectively. 24704000 2014
Leukopenia
CUI: C0023530
Disease: Leukopenia
0.050 GeneticVariation BEFREE The multivariate logistic regression analysis revealed that the ABCB1 2677G>T/A polymorphism was a strong predictor of grade 3 or greater neutropenia (odds ratio: 3.76; 95% confidence interval: 1.44-9.81; p = 0.007). 25989890 2015
Neutropenia
CUI: C0027947
Disease: Neutropenia
0.050 GeneticVariation BEFREE On evaluating higher order gene-gene interaction models by MDR analysis, CYP3A5*3; ABCB11236C>T and ABCB1 2677G>T/A; ABCB1 3435C>T and CYP1B1*3 showed significant association with treatment response, grade 2-4 anemia and dose delay/reduction due to neutropenia (P=0.024, P=0.004, P=0.026), respectively. 24704000 2014
Neutropenia
CUI: C0027947
Disease: Neutropenia
0.050 GeneticVariation BEFREE Delayed time to neutropenia recovery was observed with ABCB1 rs2032582 variant (p = .047). 27701910 2017
Neutropenia
CUI: C0027947
Disease: Neutropenia
0.050 GeneticVariation BEFREE The multivariate logistic regression analysis revealed that the ABCB1 2677G>T/A polymorphism was a strong predictor of grade 3 or greater neutropenia (odds ratio: 3.76; 95% confidence interval: 1.44-9.81; p = 0.007). 25989890 2015
Leukopenia
CUI: C0023530
Disease: Leukopenia
0.050 GeneticVariation BEFREE In toxicity, the 2677G/T or A was associated with grade 4 neutropenia. 17534875 2007
Neutropenia
CUI: C0027947
Disease: Neutropenia
0.050 GeneticVariation BEFREE Meta-analysis showed an decreased risk of irinotecan-induced neutropenia in patients expressing ABCB1 2677G>T/G (odds ratio [OR]: 0.24; 95% CI: 0.1-0.59; p = 0.002) but increased risk for ABCC2 3972T>T (OR: 1.67; 95% CI: 1.01-2.74; p = 0.04). 27269636 2016
Leukopenia
CUI: C0023530
Disease: Leukopenia
0.050 GeneticVariation BEFREE Meta-analysis showed an decreased risk of irinotecan-induced neutropenia in patients expressing ABCB1 2677G>T/G (odds ratio [OR]: 0.24; 95% CI: 0.1-0.59; p = 0.002) but increased risk for ABCC2 3972T>T (OR: 1.67; 95% CI: 1.01-2.74; p = 0.04). 27269636 2016
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.040 GeneticVariation BEFREE Our findings demonstrate that G, GT at locus G2677T/A, and TT at locus C3435T might contribute to the susceptibility to DLBCL, as well as haplotype of T-G-T, G-T in 2677-3435 and diplotype of 2677GT/3435TT, while AT at locus G2677T/A might be a protective genotype. 26211578 2015
Malignant neoplasm of colon and/or rectum
0.040 GeneticVariation BEFREE Compared with the ABCB1 gene SNPs rs1045642, rs2032582 or rs3789243 alone, combined haplotypes of several SNPs might be a better marker to determine the genetic influence on the susceptibility to colorectal cancer among Caucasians. 23279665 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE These results suggest that ABCB1 gene C3435T, G2677T/A variations and haplotype 3435T-1236T-2677T relate to the risk and clinical outcomes of breast carcinoma and may function as candidate molecular markers of anthracycline chemosensitivity in breast carcinoma. 22526155 2012
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.040 GeneticVariation BEFREE Three single-nucleotide polymorphisms (C1236T, G2677T/A, C3435T) and/or mRNA expression changes of ABCB1 gene were demonstrated to be associated with inter-individual variability of imatinib response in CML patients. 28836054 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Significant associations of rs2032582 SNP with tumor size, negative HER-2/neu status, and family history of breast carcinoma were found. 23093106 2012
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.040 GeneticVariation BEFREE We therefore studied three polymorphisms (C1236T, G2677T and C3435T) in the human multidrug-resistance gene (MDR1) in 86 patients with chronic myeloid leukaemia treated with imatinib. 27294449 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The G2677T and C3435T polymorphisms were studied and immunohistochemical analysis of the tumor and adjacent normal tissue was performed. 19192650 2009
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
0.040 GeneticVariation BEFREE G2677T/A polymorphism of MDR1 may play a significant role in the development of DRE in the Polish patients. 28608314 2017
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.040 GeneticVariation BEFREE These results suggest that the MDR1 T-129C, G2677T/A and C3435T polymorphisms are associated with risk of and survival in DLBCL, although the p-values are not as strong after Bonferroni correction. 23088763 2013