rs2032582
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.5 | rare genotype, on a triallelic snp |
| (G;G) | 1 | normal. better response to atorvastatin. greater severity of delusions in male schizophrenics. |
| (T;T) | 1.5 | 4x higher risk for lung cancer |
| Make rs2032582(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 87531302 |
| Gene | ABCB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2032582 |
| dbSNP (classic) | rs2032582 |
| ClinGen | rs2032582 |
| ebi | rs2032582 |
| HLI | rs2032582 |
| Exac | rs2032582 |
| Gnomad | rs2032582 |
| Varsome | rs2032582 |
| LitVar | rs2032582 |
| Map | rs2032582 |
| PheGenI | rs2032582 |
| Biobank | rs2032582 |
| 1000 genomes | rs2032582 |
| hgdp | rs2032582 |
| ensembl | rs2032582 |
| geneview | rs2032582 |
| scholar | rs2032582 |
| rs2032582 | |
| pharmgkb | rs2032582 |
| gwascentral | rs2032582 |
| openSNP | rs2032582 |
| 23andMe | rs2032582 |
| SNPshot | rs2032582 |
| SNPdbe | rs2032582 |
| MSV3d | rs2032582 |
| GWAS Ctlg | rs2032582 |
| GMAF | 0.3402 |
| Max Magnitude | 1.5 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2032582, also known as G2677T, is a nonsynonymous SNP located in exon 21 of the ABCB1 gene. G2677 is also known as Ala893Thr. It is often studied in conjunction with rs1045642.
The rs2032582(T) variant allele yields a 2.6 fold higher risk of developing lung cancer, and in particular, the type of lung cancer called squamous cell carcinoma (CI 1.7-4.0, P < .001) in white Spanish smokers. There appears to be little gene dosage effect, since homozygous rs2032582(T;T) carriers shoulder almost all the risk (odds ratio 6.75 compared to (A;A) homozygotes, CI 3.0-15.2). This risk is also the same in light or heavy smokers. [PMID 17120199]
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
]
OMIM also reports an association with Crohn's disease.
[PMID 20944127] Two multidrug-resistance (ABCB1) gene polymorphisms as prognostic parameters in women with ovarian cancer
[PMID 21287651] Different Transport Activity of Human Triallelic MDR1 893Ala/Ser/Thr Variant and its Association with Herb Extracts
[PMID 21902503] ABCB1 polymorphisms and neuropsychiatric adverse events in oseltamivir-treated children during influenza H1N1/09 pandemia
[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 22120734] Identification of pharmacogenetic predictors of lipid-lowering response to atorvastatin in Chilean subjects with hypercholesterolemia
[PMID 21705081] Multidrug resistance gene expression and ABCB1 SNPs in plasma cell myeloma
[PMID 22176633] ABCB1/MDR1 polymorphism and colorectal cancer risk: a meta-analysis of case-control studies
[PMID 21806386] Pharmacogenetics of calcineurin inhibitors in Brazilian renal transplant patients
[PMID 15197162] Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene.
[PMID 16103896] An association study of 43 SNPs in 16 candidate genes with atorvastatin response.
[PMID 16999857] ABCB1 genotypes and haplotypes in patients with dementia and age-matched non-demented control patients.
[PMID 17146660] Association of MDR1 genotypes with susceptibility to colorectal cancer in older non-smokers.
[PMID 17548681] MDR1 gene variants, indoor insecticide exposure, and the risk of childhood acute lymphoblastic leukemia.
[PMID 17674045] No association between MDR1 (ABCB1) 2677G>T and 3435C>T polymorphism and sporadic colorectal cancer among Bulgarian patients.
[PMID 18213362] Multiplexed genotyping of ABC transporter polymorphisms with the Bioplex suspension array.
[PMID 18442890] Association of a polymorphism of ABCB1 with obesity in Japanese individuals.
[PMID 18518969] Association of ABCB1 genetic variants with renal function in Africans and in Caucasians.
[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 18784455] The pharmacokinetics and pharmacogenomics of efavirenz and lopinavir/ritonavir in HIV-infected persons requiring hemodialysis.
[PMID 18812236] No association of ABCB1 polymorphisms with drug-refractory epilepsy in a north Indian population.
[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
[PMID 19155191] Opiate and cocaine addiction: from bench to clinic and back to the bench.
[PMID 19667110] Identification of genetic variants associated with response to statin therapy.
[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 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 21185600] Correlation between genetic polymorphisms of the hOCT1 and MDR1 genes and the response to imatinib in patients newly diagnosed with chronic-phase chronic myeloid leukemia.
[PMID 21468756] The effects of CYP3A4, CYP3A5, ABCB1, ABCC2, ABCG2 and SLCO1B3 single nucleotide polymorphisms on the pharmacokinetics and pharmacodynamics of docetaxel in nasopharyngeal carcinoma patients.
[PMID 21544031] Expression of CYP3A5 and P-glycoprotein in renal allografts with histological signs of calcineurin inhibitor nephrotoxicity.
[PMID 21553324] Polymorphisms of the MDR1 and MIF genes in children with nephrotic syndrome.
[PMID 21827404] The clinical impact of ABCB1 polymorphisms on the treatment of psychiatric diseases.
[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 22112610] Common variants in ABCB1, ABCC2 and ABCG2 genes and clinical outcomes among women with advanced stage ovarian cancer treated with platinum and taxane-based chemotherapy: a Gynecologic Oncology Group study.
[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 22672924] Polymorphisms of the drug transporter gene ABCB1 predict side effects of treatment with cabergoline in patients with PRL adenomas
[PMID 23188198] ABCB1 polymorphism predicts escitalopram dose needed for remission in major depression
[PMID 23279665] ABCB1/MDR1 gene polymorphism and colorectal cancer risk: a meta-analysis of case-control studies
[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 23556446] Association of ATP-binding cassette transporter variants with the risk of Alzheimer's disease
[PMID 23372834] ABCB1 variation and treatment response in AIDS patients: initial results of the Henan cohort
[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 24469730] Genetic association of the P-glycoprotein gene ABCB1 polymorphisms with the risk for steroid-induced osteonecrosis of the femoral head in Chinese population
[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 23733030] Pharmacogenetics in major depression: a comprehensive meta-analysis.
[PMID 24918524] Association study between the MDR1 gene and clinical characteristics in schizophrenia
| ClinVar | |
|---|---|
| Risk | Rs2032582(A;A) Rs2032582(G;G) |
| Alt | Rs2032582(A;A) Rs2032582(G;G) |
| Reference | Rs2032582(T;T) |
| Significance | Drug-response |
| Disease | not specified Ondansetron response - Efficacy simvastatin response - Efficacy Ovarian Neoplasms |
| Variation | info |
| Gene | ABCB1 |
| CLNDBN | not specified ondansetron response - Efficacy simvastatin response - Efficacy Ovarian Neoplasms |
| Reversed | 1 |
| HGVS | NC_000007.13:g.87160618A>C; NC_000007.13:g.87160618A>T |
| CLNSRC | HGMD PharmGKB Clinical Annotation UniProtKB (protein) |
| CLNACC | RCV000152717.3, RCV000211207.1, RCV000211425.1, RCV000152713.3, RCV000429867.1, |
[PMID 25355168] Colorectal cancer susceptibility: apparent gender-related modulation by ABCB1 gene polymorphisms
[PMID 25520092] Lack of association between polymorphisms in genes MTHFR and MDR1 with risk of childhood acute lymphoblastic leukemia
[PMID 26325438] Influence of ADME genomic variants on tacrolimus/sirolimus blood levels and GVHD after allogeneic hematopoietic cell transplantation
[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population
[PMID 26457621] Genetic variability in ABCB1, occupational pesticide exposure, and Parkinson's disease
[PMID 27296832] ABCB1 polymorphism is associated with atorvastatin-induced liver injury in Japanese population.
[PMID 27600024] Association between ABCB1 polymorphisms and haplotypes and Alzheimer's disease: a meta-analysis.
[PMID 28608314] Polymorphism of the multidrug resistance 1 gene MDR1 G2677T/A (rs2032582) and the risk of drug-resistant epilepsy in the Polish adult 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 30996113] Association between genetic polymorphisms and osteonecrosis in steroid treatment populations: a detailed stratified and dose-response meta-analysis.
[PMID 31391850] Role of Four ABC Transporter Genes in Pharmacogenetic Susceptibility to Breast Cancer in Jordanian Patients.
[PMID 32295184] MTHFR and VDR Polymorphisms Improve the Prognostic Value of MYCN Status on Overall Survival in Neuroblastoma Patients.
[PMID 33326171] GSTP1 and ABCB1 Polymorphisms Predicting Toxicities and Clinical Management on Carboplatin and Paclitaxel-Based Chemotherapy in Ovarian Cancer.
