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rs2032582

From SNPedia

Orientationminus
Stabilizedminus
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 6.7x higher risk for lung cancer.
Make rs2032582(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position87531302
GeneABCB1
is asnp
is mentioned by
dbSNPrs2032582
ebirs2032582
HLIrs2032582
Exacrs2032582
Varsomers2032582
Maprs2032582
PheGenIrs2032582
hapmaprs2032582
1000 genomesrs2032582
hgdprs2032582
ensemblrs2032582
gopubmedrs2032582
geneviewrs2032582
scholarrs2032582
googlers2032582
pharmgkbrs2032582
gwascentralrs2032582
openSNPrs2032582
23andMers2032582
23andMe allrs2032582
SNP Nexus

SNPshotrs2032582
SNPdbers2032582
MSV3drs2032582
GWAS Ctlgrs2032582
GMAF0.3402
Max Magnitude1.5
? (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). 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 independent of an individual's history of smoking. [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 18424454OA-icon.png]

OMIM also reports an association with Crohn's disease.

OMIM171050
DescCROHN DISEASE, SUSCEPTIBILITY TO
Variant0003
Relatedalso
Neighborrs2032583
Distance57
Neighborrs4148739
Distance431
























[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

OMIM610064
Desc
Variant
Relatedalso


[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 22110582OA-icon.png] 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 15197162OA-icon.png] 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 16999857OA-icon.png] 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 18213362OA-icon.png] 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 18518969OA-icon.png] Association of ABCB1 genetic variants with renal function in Africans and in Caucasians.


[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.


[PMID 18725235OA-icon.png] Bidirectional translational research: Progress in understanding addictive diseases.


[PMID 18784455OA-icon.png] 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 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.


[PMID 19155191OA-icon.png] 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 19694740OA-icon.png] No significant effect of ABCB1 haplotypes on the pharmacokinetics of fluvastatin, pravastatin, lovastatin, and rosuvastatin.


[PMID 19740399OA-icon.png] 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 20354687OA-icon.png] Explaining variability in ciclosporin exposure in adult kidney transplant recipients.


[PMID 20389299OA-icon.png] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.


[PMID 20533057OA-icon.png] 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 21172166OA-icon.png] 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 22112610OA-icon.png] 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.


GET Evidence
ABCB1-S893T
aa_change Ser893Thr
aa_change_short S893T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.046875
summary



[PMID 22672924] Polymorphisms of the drug transporter gene ABCB1 predict side effects of treatment with cabergoline in patients with PRL adenomas


[PMID 23188198OA-icon.png] 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 23372834OA-icon.png] ABCB1 variation and treatment response in AIDS patients: initial results of the Henan cohort


[PMID 23917080OA-icon.png] 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 23133420OA-icon.png] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.


[PMID 23133441OA-icon.png] ABCB1 4036A>G and 1236C>T Polymorphisms Affect Plasma Efavirenz Levels in South African HIV/AIDS Patients.


[PMID 23443032OA-icon.png] 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,G;A,G)
Alt rs2032582(A,G;A,G)
Reference rs2032582(T;T)
Significance Drug-response
Disease not specified ondansetron response - Efficacy simvastatin response - Efficacy
Variation info
Gene ABCB1
CLNDBN not specified ondansetron response - Efficacy simvastatin response - Efficacy
Reversed 1
HGVS NC_000007.13:g.87160618A>C; NC_000007.13:g.87160618A>T
CLNSRC HGMD PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000152717.3, RCV000211207.1, RCV000211425.1, RCV000152713.3,



[PMID 25355168OA-icon.png] 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.