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rs1045642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1 increased risk of cannabis dependence, lower (normal) cancer risk
(C;T) 2 Slower metaboliser for some drugs
(T;T) 3 altered drug metabolism and bioavailability; moderately increased risk for certain cancers
ReferenceGRCh38 38.1/141
Chromosome7
Position87509329
GeneABCB1
is asnp
is mentioned by
dbSNPrs1045642
ebirs1045642
HLIrs1045642
Exacrs1045642
Varsomers1045642
Maprs1045642
PheGenIrs1045642
hapmaprs1045642
1000 genomesrs1045642
hgdprs1045642
ensemblrs1045642
gopubmedrs1045642
geneviewrs1045642
scholarrs1045642
googlers1045642
pharmgkbrs1045642
gwascentralrs1045642
openSNPrs1045642
23andMers1045642
23andMe allrs1045642
SNP Nexus

SNPshotrs1045642
SNPdbers1045642
MSV3drs1045642
GWAS Ctlgrs1045642
GMAF0.3967
Max Magnitude3
? (C;C) (C;T) (T;T) 28
OMIM171050
DescATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1
Variant0002
Relatedalso
rs1045642, also known as C3435T, is a SNP located in the ABCB1 gene. It is often studied in conjunction with rs2032582. C3435T has been mentioned by:
  • [PMID 17185560] A "Silent" Polymorphism in the MDR1 Gene Changes Substrate Specificity (for example, to verapamil)
  • [PMID 17190370] (R)-lansoprazole (Prevacid) concentrations are significantly increased in CYP2C19 extensive metabolizers with ABCB1 C3435T C allele.
  • [PMID 15536457] In a Korean population, plasma concentrations of fexofenadine (Allegra) were 17% lower in 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects compared to 2677GG/3435CC subjects.
  • [PMID 11994059OA-icon.png] In contrast, in this study no association was observed between the C3435T polymorphism and fexofenadine plasma or urine concentrations in a German Caucasian population.
  • [PMID 20491876] A meta-analysis including 9 case-control studies (totaling ~2,500 patients) found no association between rs1045642 and epilepsy risk

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]


[PMID 19437139] ABCB1 single nucleotide polymorphisms in the Brazilian population


[PMID 20664232] Antidepressants and ABCB1 Gene C3435T Functional Polymorphism: A Naturalistic Study


[PMID 20944127] Two multidrug-resistance (ABCB1) gene polymorphisms as prognostic parameters in women with ovarian cancer

[PMID 21247447OA-icon.png] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population

OMIM171050
Desc
Variant0002
Relatedalso
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 22416375] [Genetic performance criteria valproate in patients with epilepsy]


[PMID 22630058] ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients

[PMID 15197162OA-icon.png] Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene.

[PMID 15805193OA-icon.png] Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.

[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 17366837OA-icon.png] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

[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 17913323] ABCB1 (MDR1) gene polymorphisms are associated with the clinical response to paroxetine in patients with major depressive disorder.

[PMID 18182569OA-icon.png] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 18213362OA-icon.png] Multiplexed genotyping of ABC transporter polymorphisms with the Bioplex suspension array.

[PMID 18285546OA-icon.png] A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

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

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[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 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 19155191OA-icon.png] Opiate and cocaine addiction: from bench to clinic and back to the bench.

[PMID 19193698OA-icon.png] Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.

[PMID 19197249OA-icon.png] Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain.

[PMID 19285141OA-icon.png] Genetic determinants of target and novelty-related event-related potentials in the auditory oddball response.

[PMID 19373654] ABCB1 (MDR1) rs1045642 is associated with increased overall survival in plasma cell myeloma.

[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 19930591OA-icon.png] Polymorphisms in the xenobiotic transporter Multidrug Resistance 1 (MDR1) and interaction with meat intake in relation to risk of colorectal cancer in a Danish prospective case-cohort study.

[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 20859246] ABCB1 gene polymorphisms are associated with the severity of major depressive disorder and its response to escitalopram treatment.

[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 21332314] Impact of ABCB1 C3435T polymorphism on lymph node regression in multimodality treatment of locally advanced esophageal cancer.

[PMID 21364332] Ultra-resistant schizophrenia is not associated with the multidrug-resistant transporter 1 (MDR1) gene rs1045642 variant.

[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 22135187] Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans.

[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 22311042] MDR1 C3435T polymorphism and cancer risk: a meta-analysis based on 39 case-control studies.

[PMID 22396794OA-icon.png] A comprehensive investigation on common polymorphisms in the MDR1/ABCB1 transporter gene and susceptibility to colorectal cancer.

[PMID 22434582] Neither P-gp SNP variants, P-gp expression nor functional P-gp activity predicts MDR in a preliminary study of plasma cell myeloma.

[PMID 22569204OA-icon.png] PharmGKB summary: phenytoin pathway.


GET Evidence
rs1045642
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.580405
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 22910404] Genetic association study of the P300 endophenotype in schizophrenia


[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 23803057] Gene Polymorphisms of OPRM1 A118G and ABCB1 C3435T May Influence Opioid Requirements in Chinese Patients with Cancer Pain


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


[PMID 23926124] A Functional Common Polymorphism of the ABCB1 Gene Is Associated With Chronic Kidney Disease and Hypertension in Chinese


[PMID 24070710] Association between MDR1 C3435T polymorphism and risk of breast cancer


[PMID 24086514OA-icon.png] Association of Polymorphisms in Pharmacogenetic Candidate Genes (OPRD1, GAL, ABCB1, OPRM1) with Opioid Dependence in European Population: A Case-Control Study


[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 24380367OA-icon.png] Epigenetic modulation of the drug resistance genes MGMT, ABCB1 and ABCG2 in glioblastoma multiforme


[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 24499375] Association of Oxidative Stress Related Genes with Idiopathic Recurrent Miscarriage


[PMID 24577069] Implication of P-Glycoprotein in Formation of Depression-Prone Personality: Association Study between the C3435T MDR1 Gene Polymorphism and Interpersonal Sensitivity


[PMID 22859359] ABCB1 and ABCC3 gene polymorphisms are associated with first-year response to methotrexate in juvenile idiopathic arthritis.


[PMID 22875622OA-icon.png] Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy.


[PMID 23107763] Host genetic risk factors for community-acquired pneumonia.


[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 23504525] Association between the C3435T polymorphism of ABCB1/MDR1 gene (rs1045642) and colorectal cancer susceptibility : a meta-analysis based on 11,339 subjects.


[PMID 23647060] Candidate gene association studies and risk of chronic lymphocytic leukemia: a systematic review and meta-analysis.


[PMID 23733030] Pharmacogenetics in major depression: a comprehensive meta-analysis.


[PMID 23896815OA-icon.png] Influence of ATP-binding cassette polymorphisms on neurological outcome after traumatic brain injury


[PMID 24915124] Common genetic variants in the glucocorticoid receptor and the 11β-Hydroxysteroid dehydrogenase type 1 genes influence long-term cognitive impairments in patients with Cushing's syndrome in remission


[PMID 24918524] Association study between the MDR1 gene and clinical characteristics in schizophrenia


[PMID 23996099] ABCB1 and ABCC1 variants associated with virological failure of first-line protease inhibitors antiretroviral regimens in Northeast Brazil patients


[PMID 25007187] Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia


[PMID 25217066] Relationship Between ABCB1 Polymorphisms, Thromboelastography and Risk of Bleeding Events in Clopidogrel-Treated Patients With ST-Elevation Myocardial Infarction


[PMID 25452814OA-icon.png] Risk factors for clopidogrel resistance in patients with ischemic cerebral infarction and the correlation with ABCB1 gene rs1045642 polymorphism


[PMID 26109419] Polymorphisms in ATP-binding cassette transporter genes and interaction with diet and life style factors in relation to colorectal cancer in a Danish prospective case-cohort study


[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 26336903] Impact of MTHFR rs1801133, MTHFR rs1801131 and ABCB1 rs1045642 polymorphisms with increased susceptibility of rheumatoid arthritis in the West Algerian population: A case-control study


[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 26489634] Association of single nucleotide polymorphisms of ABCB1, OPRM1 and COMT with pain perception in cancer patients


[PMID 26535684] VEGF, eNOS, and ABCB1 genetic polymorphisms may increase the risk of osteonecrosis of the femoral head


[PMID 25853335] Deceased donor multidrug resistance protein 1 and caveolin 1 gene variants may influence allograft survival in kidney transplantation.


[PMID 27534401] Associations between MDR1 C3435T polymorphism and drug-resistant epilepsy in the Polish population.


[PMID 27600024] Association between ABCB1 polymorphisms and haplotypes and Alzheimer's disease: a meta-analysis.


[PMID 27706454] FREQUENCY OF THE MDR1 GENE POLYMORPHISM RS1045642 (C3435T) IN HCV-HIV CO-INFECTED PATIENTS.


ClinVar
Risk rs1045642(C;C)
Alt rs1045642(C;C)
Reference rs1045642(T;T)
Significance Drug-response
Disease ondansetron response - Efficacy oxycodone response - Dosage methadone response - Dosage methotrexate response - Toxicity/ADR nevirapine response - Toxicity/ADR tramadol response - Dosage morphine response - Dosage digoxin response - Other opioids response - Dosage fentanyl response - Dosage
Variation info
Gene ABCB1
CLNDBN ondansetron response - Efficacy oxycodone response - Dosage methadone response - Dosage methotrexate response - Toxicity/ADR nevirapine response - Toxicity/ADR tramadol response - Dosage morphine response - Dosage digoxin response - Other opioids response - Dosage fentanyl response - Dosage
Reversed 1
HGVS NC_000007.13:g.87138645A>G
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000211142.1, RCV000211170.1, RCV000211173.1, RCV000211266.1, RCV000211276.1, RCV000211291.1, RCV000211300.1, RCV000211363.1, RCV000211388.1, RCV000211389.1,