Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045642
rs1045642
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation BEFREE The analysis showed marginal significant association for the C3435T variant in UC: the risk estimate for the allele contrast was OR = 1.11 (1.00-1.22) and OR(G) = 1.12 (1.01-1.27), indicating that a subject with high mutational load has a 12% higher probability of being diseased. 21887726

2012

dbSNP: rs1045642
rs1045642
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.100 GeneticVariation BEFREE We found that patients carrying the CYP3A5*1/*3 genotype demonstrated more side effects of fever, pleural effusion, and febrile neutropenia than those with the CYP3A5*3/*3 genotype (p = 0.075, 0.077, and 0.030, respectively); moreover, patients with the ABCB1 2677G/G genotype also showed more side effects of fever and febrile neutropenia than those with other genotypes (p = 0.024 and 0.027), In regard to ABCB1 3435C>T, patients with ABCB1 3435C/C tended to suffer leucopenia (p = 0.057). 19332043

2009

dbSNP: rs1045642
rs1045642
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation BEFREE Controversy has surrounded the reported association of the single nucleotide polymorphism (SNP) C3435T of the ATP-binding cassette subfamily B member 1 (ABCB1, MDR1) gene, with refractory epilepsy. 17125969

2007

dbSNP: rs1045642
rs1045642
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation BEFREE Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey. 17917461

2008

dbSNP: rs1045642
rs1045642
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation BEFREE Heterozygous carriers for C3435T were significantly less likely to have CD (p=0.02; OR 0.58, 95% CI (0.36-0.91)). 23537364

2013

dbSNP: rs1045642
rs1045642
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation BEFREE ABCB1 3435C>T and 2677G>T/A polymorphisms in Polish and Bosnian patients with Crohn's disease - A preliminary report. 28759738

2017

dbSNP: rs1045642
rs1045642
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In this study suggest that C3435T MDR1 polymorphism has an association with colorectal cancer. 20127181

2011

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The present study was aimed to evaluate the possible effects of ABCB1 C3435T and ABCG2 C421A single nucleotide polymorphisms on clinical and pathological outcomes of Kurdish patients with breast cancer. 26700668

2016

dbSNP: rs1045642
rs1045642
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In this study, a panel of 5 SNPs, namely ABCC2 (-24C > T/rs717620 and c.4544 G > A/rs8187710), ABCG2 (c.421 C > A/rs2231142), ABCB1 (c.3435 C > T/rs1045642) and SLC31A1 (c.-36 + 2451 T > G/rs10981694), was evaluated to assess their association with grade 2-3 OXPN in metastatic CRC patients. 30713338

2019

dbSNP: rs1045642
rs1045642
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE This meta-analysis indicated that the C3435T polymorphism of MDR1 may not confer susceptibility to IBD. 24449364

2014

dbSNP: rs1045642
rs1045642
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation BEFREE These results suggest that ABCB1 3435C>T polymorphism is associated with antiemetic treatment efficacy in patients with cancer treated with 5-HT(3) antagonists, particularly in granisetron-treated patients, during the short-term phase of chemotherapy. 16338277

2005

dbSNP: rs1045642
rs1045642
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation BEFREE The importance of MDR1 SNPs 2677G > T/A in exon 21 and 3435C > T in exon 26 for cancer susceptibility, however, has not yet been clearly defined. 17146660

2007

dbSNP: rs1045642
rs1045642
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation BEFREE A significant association of MDR1 C3435T with CD was observed (CC vs (CT + TT): P = 0.007; OR [95% CI] = 1.58 [1.12-2.23]). 16374256

2006

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We investigated the incidence of C3435T polymorphisms at exon 26 in the MDR-1 gene in 92 women with breast cancer and potential association of altered genotypes with smoking and high body mass index in cancer development among patients. 17549370

2007

dbSNP: rs1045642
rs1045642
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation BEFREE In summary, this meta-analysis provided evidence that MDR1 C3435T polymorphism is associated with a decreased risk of CRC in Asian population. 29390571

2017

dbSNP: rs1045642
rs1045642
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 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

dbSNP: rs1045642
rs1045642
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation BEFREE C3435T polymorphism of MDR1 gene was analysed by the high resolution melting technique in a group of patients with drug-resistant (n = 106) and drug-responsive epilepsy (n = 67), as well as in non-epileptic children (n = 98) hospitalised at the Department of Neurology, Polish Mother's Memorial Hospital in Lodz. 27391700

2016

dbSNP: rs1045642
rs1045642
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation BEFREE CYP3A5*3 and C3435T MDR1 polymorphisms in prognostication of drug-resistant epilepsy in children and adolescents. 23984379

2013

dbSNP: rs1045642
rs1045642
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE We have previously found association between the ABCB1 C-rs3789243-T polymorphism and CRC risk and interactions between the ABCB1 C-rs3789243-T and C3435T polymorphisms and meat intake in relation to CRC risk (Andersen, BMC Cancer, 2009, 9, 407). 23977225

2013

dbSNP: rs1045642
rs1045642
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation BEFREE We have detected no significant association of C3435T SNP and pediatric CD. 27603561

2016

dbSNP: rs1045642
rs1045642
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation BEFREE All the case-control association researches evaluating the role of MDR1 C3435T polymorphism in childhood epilepsy to antiepileptic drugs were identified. 24553780

2014

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE These results suggest that C3435T polymorphism genotyping and menopausal status at the time of diagnosis might be useful when considering chemotherapy regimens including docetaxel in breast cancer patients. 20628376

2010

dbSNP: rs1045642
rs1045642
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation BEFREE The ABCB1 T-129C, C1236T, G2677T/A and C3435T polymorphisms were genotyped in 210 Japanese epileptics who had been prescribed AEDs, including CBZ, for longer than 2 years. 16753003

2006

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We conclude that the T allele carrier of the 34</span>35 C/T polymorphism in the ABCB1 gene in combination with an estrogen receptor-negative status may be an important risk factor for breast cancer development in premenopausal women. 25730063

2015

dbSNP: rs1045642
rs1045642
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The results suggest that the ABCB1-C3435T gene polymorphism might be a genetic risk factor and a potential biomarker for breast cancer. 28039704

2017