rs1128503, ABCB1

N. diseases: 64
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.050 GeneticVariation BEFREE Consistently, TT genotype of C1236T and TTT haplotype were also found more frequently in UC patients. 29543864 2018
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.050 GeneticVariation BEFREE ABCB1 1236C>T polymorphism significantly affects the therapeutic efficacy of tarcolimus at 12 weeks under the tight dose-adjusting treatment for ulcerative colitis. 28135009 2017
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.050 GeneticVariation BEFREE The CC genotype and C allele of ABCB1 C1236T polymorphisms are significantly associated with UC susceptibility, so we conclude that ABCB1 C1236T polymorphisms might serve as genetic-susceptibility factors for UC. 25755800 2015
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.050 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.050 GeneticVariation BEFREE SNP C1236T was significantly (P=0.05) overrepresented in the U</span>C patients. 19005421 2009
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.040 GeneticVariation BEFREE C1236T polymorphism was associated with steroid resistance in INS children (odds ratio: 2.27, 95 % confidence interval: 1.2-4.4; P = 0.012). 27719329 2017
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.040 GeneticVariation BEFREE MDR1 rs1128503, rs1045642, and rs2032582 polymorphisms are not associated with INS susceptibility; however, there is evidence of an association between rs1128503 and increased risk of steroid resistance in children with INS, which indicates MDR1 may play a role in steroid resistance found in children with INS. 28614261 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Genetic polymorphisms of MDR1 C3435T and G2677A/T, but not C1236T, are associated with increased risk of breast cancer. 26838221 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE In this study, we examined the association between polymorphisms 3435 C/T and 1236 C/T in the ABCB1 gene and breast cancer development in Mexican women according to their menopausal status and molecular classification. 25730063 2015
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.040 GeneticVariation BEFREE The purpose of the study was to investigate the distribution of insertion/deletion (I/D) polymorphisms of the angiotensin-converting enzyme (ACE) gene and three exonic polymorphisms of the multidrug resistance 1 (MDR1) gene (C3435T, C1236T, and G2677T) in children diagnosed with idiopathic nephrotic syndrome (INS). 26154535 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.040 GeneticVariation BEFREE Therefore, we aimed to investigate the relationship between colorectal cancer and the functional common variants of ABCB1 (1236C > T; 2677G > T/A; 3435C > T). 23193993 2013
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
0.040 GeneticVariation BEFREE Our results indicate that among our pediatric patients with INS the C1236T polymorphism in the ABCB1 gene was associated with steroid resistance, while the A6986G polymorphism in the CYP3A5 gene showed a trend of association, but did not reach statistical significance, requiring further analysis. 22610055 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE However, we did not find statistically significant association between C1236T genotypes and the risk or prognosis of breast carcinoma. 22526155 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Whether ABCB1 polymorphisms including T-129C, A61G, C1236T, G2677T/A and C3435T polymorphisms could account for variations in the disposition of docetaxel and whether menopausal status at the time of diagnosis might interact with this effect were analysed in women receiving neoadjuvant chemotherapy for breast cancer (n=86). 20628376 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.040 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.040 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
0.040 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
Idiopathic Nephrotic Syndrome
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
0.030 GeneticVariation BEFREE Studies have investigated rs1128503, rs1045642, and rs2032582 in multidrug resistance protein 1 (MDR1) for association with susceptibility to idiopathic nephrotic syndrome (INS) and steroid resistance. 28614261 2017
Nephrotic Syndrome, Minimal Change
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
0.030 GeneticVariation BEFREE Studies have investigated rs1128503, rs1045642, and rs2032582 in multidrug resistance protein 1 (MDR1) for association with susceptibility to idiopathic nephrotic syndrome (INS) and steroid resistance. 28614261 2017
Childhood Acute Lymphoblastic Leukemia
0.030 GeneticVariation BEFREE The present meta-analysis found no evidence for ABCB1 C3435T and C1236T polymorphisms as risk factors for pediatric ALL. 28845766 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.030 GeneticVariation BEFREE The NOS1 exon18 and ABCB1 1236C/T variants might play a role in the risk of Parkinson's disease, whereas NOS1 exon29 and ABCB1 3435C/T polymorphisms might not contribute to PD susceptibility. 27749554 2016
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.030 GeneticVariation BEFREE Overall, the analysis suggested that MDR1 C123</span>6T polymorphism substantially contribute to Parkinson's disease in the recessive genetic model. 27538645 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Genetic polymorphisms of MDR1 C3435T and G2677A/T, but not C1236T, are associated with increased risk of breast cancer. 26838221 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.030 GeneticVariation BEFREE Our data suggest that the C1236T and G2677A/T SNPs in the MDR1 gene are associated with CD and the C1236T risk allele with a more severe course of disease in Algerian pediatric patients. 27603561 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.030 GeneticVariation BEFREE Here, we performed a meta-analysis to assess whether ABCB1 polymorphisms 3435C > T (rs1045642), 2677G > T/A (rs2032582), 1236C > T (rs1128503) and haplotypes were associated with AD risk. 27600024 2016