Rapid Detection of CYP1A1, CYP2D6, and NAT Variants by Multiplex Polymerase Chain Reaction and Allele-Specific Oligonucleotide Assay

Labuda, Damian; Krajinović, Maja; Richer, Chantal; Skoll, Amanda; Sinnett, Hugues; Yotova, Vania; Sinnett, Daniel

doi:10.1006/abio.1999.4293

Cited by 66 publications

(41 citation statements)

References 23 publications

(15 reference statements)

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“…Studies varied in size from 40 subjects genotyped in the smallest study 56 to 428 in the largest, 30 although the number of samples being compared by the reference method varied from 6 38 to 1400 samples. 31 The majority of studies were conducted in Europe (22/46); half (23/46) reported the ethnic origin of their subjects that was usually either solely or mainly Caucasian in 14 studies.…”

Section: N Fleeman Et Almentioning

confidence: 99%

Cytochrome P450 testing for prescribing antipsychotics in adults with schizophrenia: systematic review and meta-analyses

et al. 2010

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There is wide variability in the response of individuals to standard doses of antipsychotic drugs. It has been suggested that this may be partly explained by differences in the cytochrome P450 (CYP450) enzyme system responsible for metabolizing the drugs. We conducted a systematic review and metaanalyses to consider whether testing for CYP450 single nucleotide polymorphisms in adults starting antipsychotic treatment for schizophrenia predicts and leads to improvements in clinical outcomes. High analytic validity in terms of sensitivity and specificity was seen in studies reporting P450 testing. However, there was limited evidence of the role of CYP2D6 polymorphisms in antipsychotic efficacy, although there was an association between CYP2D6 genotype and extrapyramidal adverse effects. No studies reported on the prospective use of CYP2D6 genotyping tests in clinical practice. In conclusion, evidence of clinical validity and utility of CYP2D6 testing in patients being prescribed antipsychotics is lacking, and thus, routine pharmacogenetic testing prior to antipsychotic prescription cannot be supported at present. Further research is required to improve the evidence base and to generate data on clinical validity and clinical utility.

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Section: N Fleeman Et Almentioning

confidence: 99%

Cytochrome P450 testing for prescribing antipsychotics in adults with schizophrenia: systematic review and meta-analyses

et al. 2010

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“…The resulting PCR products were dot-blotted in duplicate on a nylon membrane and assayed for the presence or absence of one or the other variant by ASO hybridization, as described in Labuda et al 42 ASO probes specific for the MTHFR C677 (gcgggagCcgatttc), MTHFR T677 (gcgggagTc gatttc), MTHFR A1298 (ccagtgaagAaagtg), MTHFR C1298 (ccagtgaagCaagtg), MTHFD1 G1958 (cagaccGgatcgcac) and MTHFD1 A1958 (cagaccAgatcgcac) alleles were designed and hybridized at 501C (MTHFR 677 and MTHFD1 1958) or 521C (MTHFR 1298).…”

Section: Study Populationmentioning

confidence: 99%

Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia

Krajinović

Lemieux-Blanchard²,

Chiasson³

et al. 2003

Pharmacogenomics J

150

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The central role of 5,10-methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD1) in folate metabolism renders polymorphisms in genes encoding these enzymes potential modulators of therapeutic response to antifolate chemotherapeutics. The analysis of 201 children treated with methotrexate for childhood acute lymphoblastic leukemia (ALL) showed that patients with either the MTHFR T677A1298 haplotype or MTHFD1 A1958 variant had a lower probability of event-free survival (EFS) in univariate analysis (hazard ratio (HR) ¼ 2.2, 95% confidence interval (CI), 1.0-4.7 and 2.8, 95% CI, 1.1-7.3, respectively). Multivariate analysis supported only the role of the MTHFR variant (HR ¼ 2.2, 95% CI, 0.9-5.6). However, the association of both genes with ALL outcome appears to be more obvious in the presence of another event-predisposing variant belonging to the same path of drug action. The combined effect of a thymidylate synthase (TS) triple repeat associated with increased TS levels, with either the MTHFR T677A1298 haplotype or MTHFD1 A1958 allele, resulted in a highly significant reduction of EFS (multivariate HR ¼ 9.0, 95% CI, 1.9-42.8 and 8.9, 95% CI, 1.8-44.6, respectively). These results reveal the role of gene-gene interactions within a folate pathway, and how they can correlate with relapse probabilities in ALL patients.

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“…Membranes are placed on photographic film for a few hours, and later exposed. By comparing the presence of signal on both films, the genotype for certain loci may be determined [Labuda et al, 1999].…”

Section: B5 Genotypingmentioning

confidence: 99%

“…Polymorphisms in CXCL2 locus (rs9131 and rs16850498,) due to their reported association with WBC, were also analyzed. 11 Genotypes were obtained using genotyping platforms at Genome Quebec and McGill Innovation Center or by allele-specific oligonucleotide hybridization as previously described [Labuda et al, 1999] (Supplemental Table 1). …”

Section: Snps Selectionmentioning

confidence: 99%

Impact of genetic polymorphisms determining leukocyte/neutrophil count on chemotherapy toxicity

et al. 2017

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Rapid Detection of CYP1A1, CYP2D6, and NAT Variants by Multiplex Polymerase Chain Reaction and Allele-Specific Oligonucleotide Assay

Cited by 66 publications

References 23 publications

Cytochrome P450 testing for prescribing antipsychotics in adults with schizophrenia: systematic review and meta-analyses

Cytochrome P450 testing for prescribing antipsychotics in adults with schizophrenia: systematic review and meta-analyses

Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia

Impact of genetic polymorphisms determining leukocyte/neutrophil count on chemotherapy toxicity

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