rs1128503, ABCB1

N. diseases: 64
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.020 GeneticVariation BEFREE MDD is associated with the rs2032582 (<i>G2677T</i>) and rs1128503 (<i>C1236T</i>) single-nucleotide polymorphisms (SNPs) of <i>ABCB1</i> but not with rs1045642, rs2032583, rs2235040, and rs2235015. 31333472 2019
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.020 GeneticVariation BEFREE C1236T genotype may predict changes in pathological features of patients with HCC to a certain extent, and C3435T SNP can be used as one of the prognostic factors of HCC. 30779721 2019
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.020 GeneticVariation BEFREE A significant protection for MDD males carrying the T allele was observed (C1236T: odds ratio (OR)=0.360, 95% confidence interval [CI]: [0.140-0.950], p=0.022; C3435T: OR=0.306, 95% CI: [0.096-0.980], p=0.042; and G2677TA: OR=0.300, 95% CI: [0.100-0.870], p=0.013). 24200053 2014
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
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
0.020 GeneticVariation BEFREE ABCB1 C1236T, ABCB1 G2677 T/A genotype and BMI are probably the factors influencing the clinical efficacy of TAC in treating patients with NS. 29615122 2018
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.010 GeneticVariation BEFREE ABCB1 gene rs2032582 and rs1128503 polymorphisms may be associated with the efficacy of etanercept in AS patients. 28151874 2017
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.020 GeneticVariation BEFREE Additionally, there are three SNPs (rs1045642, rs2032582 and rs1128503) within the most widely studied of these genes, ABCB1, which have been suggested to have a potential impact on OS in PCM and which may form a haplotype in ABCB1. rs1045642 in ABCB1 appears to be the only SNP affecting OS within the PCM patients studied, with minimal linkage disequilibrium demonstrated between it and rs2032582 and rs1128503. 21705081 2011
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
0.020 GeneticVariation BEFREE Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever. 22194207 2011
Childhood Acute Lymphoblastic Leukemia
0.030 GeneticVariation BEFREE C3435T and C1236T MDR1 polymorphism are significantly associated with the high-risk group (OR=2.6, 95%CI=1.164-5.808; P=0.028 and OR=2.231, 95%CI=1.068-4.659; p=0.047, respectively), indicating that both may be candidates for molecular markers in the high-risk group of ALL. 25854371 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE CC and TC+TT genotype patients with C1236T loci showed statistically significant differences in tumor size stratification (χ=4.006, P=0.045). 30779721 2019
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.010 GeneticVariation BEFREE Considering genotype analyses, CT (rs1128503) demonstrated an increased chance of anti-TB</span> drug resistance (odds ratio (OR): 2.34, <i>P</i>=0.02), while the analyses for ethambutol resistance revealed an association with a rare A allele (rs2032582) (OR: 12.91, <i>P</i>=0.01), the haplotype TTC (OR: 5.83, <i>P</i>=0.05), and any haplotype containing the rare A allele (OR: 7.17, <i>P</i>=0.04). 28572401 2017
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.020 GeneticVariation BEFREE Conversely, according to a recessive model, increased HCC risk was associated with two polymorphisms: <i>XRCC3</i> rs1799794 (OR = 3.70, 95%CI: 1.02-13.39, <i>P</i> = 0.0461) and <i>ABCB1</i> rs1128503 (OR = 2.06, 95%CI: 1.18-3.61, <i>P</i> = 0.0111). 29085212 2017
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Data from 30 pharmacogenomic studies that investigated MDR1 mRNA expression or gene variants (C3435T, G2677TA, C1236T) and response to therapy in acute myeloid leukaemia (AML) were synthesized. 23805980 2013
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
Malignant neoplasm of colon and/or rectum
0.020 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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.030 GeneticVariation BEFREE Fifty-four Italian patients diagnosed with probable mild to moderate Alzheimer's disease, treated with donepezil (37 patients 5 mg/day, 17 patients 10 mg/day) were genotyped for CYP3A4 (*1B, *3, and *4), CYP3A5 (*2, *3, and *6) and ABCB1 (3435C>T, 2677G>T/A, and 1236C>T) polymorphisms. 20931330 2011
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.030 GeneticVariation BEFREE Five SNPs, rs1128503 (P = 0.02), rs1202184 (P = 0.008), rs1202186 (P = 0.02), rs2091766 (P = 0.03), and rs2235046 (P = 0.03) were nominally associated with noninflammatory CD. 19107781 2009
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE For the first time, we demonstrated that MDR1 rs1128503 polymorphisms were associated with SLE susceptibility in Chinese Guangxi population. 28154898 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
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
Bullous pemphigoid
CUI: C0030805
Disease: Bullous pemphigoid
0.010 GeneticVariation BEFREE Haplotypes of ABCB1 1236C >T (rs1128503), 2677G >T/A (rs2032582), and 3435C >T (rs1045642) in patients with bullous pemphigoid. 29948283 2018
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
0.010 GeneticVariation BEFREE Here, we investigated whether common MDR1 single nucleotide polymorphisms (SNPs) (C1236T, C3435T, and G2677T/A) affect predisposition to chronic lymphocytic leukemia (CLL). 21463115 2011
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