From SNPedia
| Geno
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Mag
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Summary
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| (C;C)
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0
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normal
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| (C;T)
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may require more methadone during heroin withdrawal
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| (T;T)
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likely to require more methadone during heroin withdrawal
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| ? | (C;C) (C;T) (T;T) | 28 |
|---|
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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
| PharmGKB | PA165110747 |
| Name | ABCB1:2677G>T/A, mRNA 3095G>T/A, Ala893Ser/Thr |
| Annotation | Risk or phenotype-associated allele: None. Phenotype: Efflux of P-glycoprotein substrates (verapamil; digoxin; vinblastine; cyclosporin A) in vitro were not significantly affected by combined mutations for rs1128503 (2677G>T/A) and rs1045642 (3435C>T) in LLC-PK1 cell lines. Study size: Triplicate cell assays. Study population/ethnicity: N/A. Significance metric(s): Not significant, p > 0.05. Type of association: FA |
| Gene | ABCB1 |
| Featue | Exon/Syn |
| Evidence | PubMed ID:12781336 |
| Drugs | cyclosporine, digoxin, verapamil, vinblastine |
| Diseases | |
| Curation Level | Curated |
[PMID 19437139] ABCB1 single nucleotide polymorphisms in the Brazilian population
| PharmGKB | PA164944056 |
| Name | ABCB1:1236T>C, mRNA 1654T>C, Gly412Gly |
| Annotation | peak blood concentration of cyclosporin A (CsA) was significantly lower in myasthenia gravis patients harboring the 1236 T allele; and trough CsA levels were significantly greater in 1236 TT homozygotes versus CC homozygotes |
| Gene | ABCB1 |
| Featue | Exon/Syn |
| Evidence | PubMed ID:18717915 |
| Drugs | cyclosporine |
| Diseases | Myasthenia Gravis |
| Curation Level | Curated |
| PharmGKB | PA165291809 |
| Name | ABCB1:1236C>T |
| Annotation | Risk or phenotype-associated allele: T. Phenotype: A haplotype of ABCB1 c.1236C>T, c.2677G>A/T, and c.3435C>T (rs1128503, rs2032582 and rs1045642) was associated with increased drug exposure and reduced clearance. Study size: . Study population/ethnicity: Asian patients with Breast Neoplasms treated with doxorubicin. Significance metric(s): p = 0.03 (exposure); p= 0.01 (clearance). Type of association: PK. |
| Gene | ABCB1 |
| Featue | Exon/Syn |
| Evidence | PubMed ID:18377430 |
| Drugs | doxorubicin |
| Diseases | Breast Neoplasms |
| Curation Level | Curated |
| PharmGKB | PA165111372 |
| Name | ABCB1 1236C>T, ABCB1:1236C>T |
| Annotation | Risk or phenotype-associated allele: T Phenotype: Carriers of the T variant of ABCB1:1236C>T had lower Autism Treatment Evaluation Checklist (ATEC) scores, indicating improved symptoms and response to risperidone, than CC homozygotes. Study size: 45 Study population/ethnicity: Children with Autism receiving risperidone Significance metric(s): p = 0.002 Type of association: PD |
| Gene | ABCB1 |
| Featue | Exon/Syn |
| Evidence | PubMed ID:19997080 |
| Drugs | risperidone |
| Diseases | Autistic Disorder |
| Curation Level | Curated |
| PharmGKB | PA165111310 |
| Name | ABCB1: c.1236T>C, mRNA 1654T>C, p.Gly412Gly, ABCB1*8 |
| Annotation | Risk or phenotype-associated allele: rs1128503 TT genotype. Phenotype: Systemic exposure of tipifarnib, based on plasma AUC levels, were 46.5% higher for patients homozygous for ABCB1*8 (3435TT) compared to the CT and CC genotypes. Study size: 28 (16 male). Study population/ethnicity: Caucasian cancer patients, aged 34-75. Significance metric(s): p = 0.047. Type of association: GN; PK |
| Gene | ABCB1 |
| Featue | Exon/Syn |
| Evidence | PubMed ID:15122075 |
| Drugs | Tipifarnib |
| Diseases | |
| Curation Level | Curated |
[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]
