rs1128503
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | may require more methadone during heroin withdrawal | |
| (T;T) | 0 | likely to require more methadone during heroin withdrawal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 87550285 |
| Gene | ABCB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1128503 |
| dbSNP (classic) | rs1128503 |
| ClinGen | rs1128503 |
| ebi | rs1128503 |
| HLI | rs1128503 |
| Exac | rs1128503 |
| Gnomad | rs1128503 |
| Varsome | rs1128503 |
| LitVar | rs1128503 |
| Map | rs1128503 |
| PheGenI | rs1128503 |
| Biobank | rs1128503 |
| 1000 genomes | rs1128503 |
| hgdp | rs1128503 |
| ensembl | rs1128503 |
| geneview | rs1128503 |
| scholar | rs1128503 |
| rs1128503 | |
| pharmgkb | rs1128503 |
| gwascentral | rs1128503 |
| openSNP | rs1128503 |
| 23andMe | rs1128503 |
| SNPshot | rs1128503 |
| SNPdbe | rs1128503 |
| MSV3d | rs1128503 |
| GWAS Ctlg | rs1128503 |
| GMAF | 0.4219 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1128503 is a SNP in the transporter P-glycoprotein (P-gp) 170, encoded by the ABCB1 (also known as MDR1) gene. Methadone is a substrate of this protein, so variants may affect the efficacy and optimal dosage of this drug as used for treating opiate dependence.
A study of 98 methadone-maintaining patients concluded that the higher (>150 mg/day) and lower (< or =150 mg/day) methadone dose groups differed significantly in their rs1128503 status (experiment-wise p = 0.0325). Furthermore, individuals with the 3-locus genotype pattern (T;T)-(T;T)-(T;T) for SNPs rs1045642, rs2032582 and rs1128503, respectively, had an approximately 5-fold chance of requiring the 'higher' methadone dose, while individuals heterozygous for these three SNPs have an approximately 3-fold chance of stabilizing at the 'lower' methadone dose (point-wise p-value = 0.026).[PMID 18424454
]
[PMID 19107781] Associations between ABCB1/MDR1 gene polymorphisms and Crohn's disease: a gene-wide study in a pediatric population
[PMID 19437139] ABCB1 single nucleotide polymorphisms in the Brazilian population
[PMID 21790905] CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction
[PMID 22015057] Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study
[PMID 22110582] Association of MDR1 Gene SNPs and Haplotypes with the Tacrolimus Dose Requirements in Han Chinese Liver Transplant Recipients
[PMID 21705081] Multidrug resistance gene expression and ABCB1 SNPs in plasma cell myeloma
[PMID 21806386] Pharmacogenetics of calcineurin inhibitors in Brazilian renal transplant patients
[PMID 22358301] ABCB1 genetic variation and P-glycoprotein expression/activity in a cohort of Brazilian acute myeloid leukemia patients
[PMID 22416375] [Genetic performance criteria valproate in patients with epilepsy]
[PMID 15197162] Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene.
[PMID 16999857] ABCB1 genotypes and haplotypes in patients with dementia and age-matched non-demented control patients.
[PMID 17548681] MDR1 gene variants, indoor insecticide exposure, and the risk of childhood acute lymphoblastic leukemia.
[PMID 17913323] ABCB1 (MDR1) gene polymorphisms are associated with the clinical response to paroxetine in patients with major depressive disorder.
[PMID 18213362] Multiplexed genotyping of ABC transporter polymorphisms with the Bioplex suspension array.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18698231] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 18725235] Bidirectional translational research: Progress in understanding addictive diseases.
[PMID 18812236] No association of ABCB1 polymorphisms with drug-refractory epilepsy in a north Indian population.
[PMID 19155191] Opiate and cocaine addiction: from bench to clinic and back to the bench.
[PMID 19285141] Genetic determinants of target and novelty-related event-related potentials in the auditory oddball response.
[PMID 19694740] No significant effect of ABCB1 haplotypes on the pharmacokinetics of fluvastatin, pravastatin, lovastatin, and rosuvastatin.
[PMID 19740399] Influence of ABCB1 polymorphisms and haplotypes on tacrolimus nephrotoxicity and dosage requirements in children with liver transplant.
[PMID 19844206] Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans.
[PMID 20170205] Effect of CYP3A and ABCB1 single nucleotide polymorphisms on the pharmacokinetics and pharmacodynamics of calcineurin inhibitors: Part I.
[PMID 20214406] Effect of CYP3A and ABCB1 single nucleotide polymorphisms on the pharmacokinetics and pharmacodynamics of calcineurin inhibitors: Part II.
[PMID 20354687] Explaining variability in ciclosporin exposure in adult kidney transplant recipients.
[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
[PMID 20533057] ABCB1/MDR1 gene polymorphisms as a prognostic factor in colorectal cancer.
[PMID 21102498] Cytochrome P450 genetic polymorphisms influence the serum concentration of calcineurin inhibitors in allogeneic hematopoietic SCT recipients.
[PMID 21172166] Pharmacogenetics of antidepressant response.
[PMID 21553324] Polymorphisms of the MDR1 and MIF genes in children with nephrotic syndrome.
[PMID 21840870] Association of ABCB1, 5-HT3B receptor and CYP2D6 genetic polymorphisms with ondansetron and metoclopramide antiemetic response in Indonesian cancer patients treated with highly emetogenic chemotherapy.
[PMID 21896346] Polymorphisms in genes that regulate cyclosporine metabolism affect cyclosporine blood levels and clinical outcomes in patients who receive allogeneic hematopoietic stem cell transplantation.
[PMID 22134106] ABCB1 haplotype is associated with major molecular response in chronic myeloid leukemia patients treated with standard-dose of imatinib.
[PMID 22136368] Influence of genomic ancestry on the distribution of SLCO1B1, SLCO1B3 and ABCB1 gene polymorphisms among Brazilians.
[PMID 22306099] Association between the functional polymorphism (C3435T) of the gene encoding P-glycoprotein (ABCB1) and major depressive disorder in the Japanese population.
[PMID 22569204] PharmGKB summary: phenytoin pathway.
[PMID 23188198] ABCB1 polymorphism predicts escitalopram dose needed for remission in major depression
[PMID 23546964] Frequency of MDR1 single nucleotide polymorphisms in a Jordanian population, including a novel variant
[PMID 23093106] Detection of frequent ABCB1 polymorphisms by high-resolution melting curve analysis and their effect on breast carcinoma prognosis
[PMID 23786015] [Pharmacogenetic criteria drug-resistence epilepsy]
[PMID 23917080] ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
[PMID 23133441] ABCB1 4036A>G and 1236C>T Polymorphisms Affect Plasma Efavirenz Levels in South African HIV/AIDS Patients.
[PMID 23443032] Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.
[PMID 23462807] Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib.
[PMID 23896815] Influence of ATP-binding cassette polymorphisms on neurological outcome after traumatic brain injury
[PMID 25007187] Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia
[PMID 25784996] ABCB1 (rs1128503) polymorphism and response to chemotherapy in patients with malignant tumors-evidences from a meta-analysis
[PMID 26107754] Association of SNPs with the efficacy and safety of immunosuppressant therapy after heart transplantation
[PMID 26107220] Quantitative Assessment of the Association between ABC Polymorphisms and Osteosarcoma Response: a Meta-analysis
[PMID 25355168] Colorectal cancer susceptibility: apparent gender-related modulation by ABCB1 gene polymorphisms
| ClinVar | |
|---|---|
| Risk | Rs1128503(C;C) |
| Alt | Rs1128503(C;C) |
| Reference | Rs1128503(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | ABCB1 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000007.13:g.87179601A>G |
| CLNSRC | |
| CLNACC | RCV000174498.1, |
[PMID 27600024] Association between ABCB1 polymorphisms and haplotypes and Alzheimer's disease: a meta-analysis.
[PMID 28358842] The risk of clopidogrel resistance is associated with ABCB1 polymorphisms but not promoter methylation in a Chinese Han population.
[PMID 28792718] MDR-1 and CYP3A5 Polymorphisms in Pediatric Idiopathic Nephrotic Syndrome: Impact on Susceptibility and Response to Steroids (Preliminary Results).
[PMID 29491071] Polymorphisms of ABCB1, CYP3A4 and CYP3A5 Genes in Ovarian Cancer and Treatment Response in Poles.
[PMID 30213564] Clinical utility of ABCB1 genotyping for preventing toxicity in treatment with irinotecan.
[PMID 30637776] Influence of ABCB1 C3435T and C1236T gene polymorphisms on tumour response to docetaxel-based neo-adjuvant chemotherapy in locally advanced breast cancer patients of South India.
[PMID 30022368] Do SNPs in folate pharmacokinetic pathway alter levels of intracellular methotrexate polyglutamates and affect response? A prospective study in Indian patients.
[PMID 33326171] GSTP1 and ABCB1 Polymorphisms Predicting Toxicities and Clinical Management on Carboplatin and Paclitaxel-Based Chemotherapy in Ovarian Cancer.
