|(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.|
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 18424454]
OMIM also reports an association with Crohn's disease.
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[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
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[PMID 19740399] Influence of ABCB1 polymorphisms and haplotypes on tacrolimus nephrotoxicity and dosage requirements in children with liver transplant.
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[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.
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|qualified_impact||Insufficiently evaluated not reviewed|
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[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
|Disease||not specified ondansetron response - Efficacy simvastatin response - Efficacy|
|CLNDBN||not specified ondansetron response - Efficacy simvastatin response - Efficacy|
|CLNSRC||HGMD PharmGKB Clinical Annotation PharmGKB|
|CLNACC||RCV000152717.3, RCV000211207.1, RCV000211425.1, RCV000152713.3,|
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