GenoChip CYP2D6 macroarray as a method to genotype for CYP2D6 variants: results of a validation study in a Caucasian population

被引：0

作者：

Bank, Paul C. D. ^{[1
]}

Swen, Jesse J. ^{[1
]}

Guchelaar, Henk-Jan ^{[1
]}

van der Straaten, Tahar ^{[1
]}

机构：

[1] Leiden Univ, Med Ctr, Dept Clin Pharm & Toxicol, Leiden, Netherlands

来源：

PHARMACOGENOMICS | 2015年 / 16卷 / 07期

关键词：

AmpliChip (R) CYP450; CYP2D6; cytochrome P450; GenoChip CYP2D6; genotyping; pharmacogenetics; AMPLICHIP CYP450 TEST; NO-CALL; GENE; 2988G-GREATER-THAN-A; PHARMACOGENETICS; CONSEQUENCES; POLYMORPHISM; ASSOCIATION; FREQUENCIES; RESOLUTION;

D O I：

10.2217/PGS.15.30

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Aim: The aim of this study was to investigate the concordance between the novel GenoChip CYP2D6 macroarray and the AmpliChip, which is considered the gold standard in CYP2D6 genotyping. Materials & methods: Germline DNA of 200 patients was genotyped with both the AmpliChip and the GenoChip CYP2D6 macroarray. Results: One hundred and ninety- eight samples (99%) showed concordance. In two discordant samples the AmpliChip identified a *41 allele while the GenoChip CYP2D6 macroarray did not. Sanger sequencing showed that the 2988G>A mutation and thus the *41 allele was not present in both samples. Conclusion: We conclude that that the GenoChip CYP2D6 macroarray is a valid method for detecting genetic variants of CYP2D6 in a Caucasian population.

引用

页码：681 / 687

页数：7

共 17 条

[1]

Dezentje VO, 2014, THESIS LEIDEN U LEID

[2] Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study [J].

Dodgen, Tyren M. ;

Hochfeld, Warren E. ;

Fickl, Heidi ;

Asfaha, Sahle M. ;

Durandt, Chrisna ;

Rheeder, Paul ;

Droegemoeller, Britt I. ;

Wright, Galen E. B. ;

Warnich, Louise ;

Labuschagne, Christiaan D. J. ;

van Schalkwyk, Antoinette ;

Gaedigk, Andrea ;

Pepper, Michael S. .

BMC MEDICAL GENETICS, 2013, 14

[3] DEFECTIVE N-OXIDATION OF SPARTEINE IN MAN - NEW PHARMACOGENETIC DEFECT [J].

EICHELBAUM, M ;

SPANNBRUCKER, N ;

STEINCKE, B ;

DENGLER, HJ .

EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY, 1979, 16 (03) :183-187

[4] Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans [J].

Gaedigk, A ;

Bhathena, A ;

Ndjountché, L ;

Pearce, RE ;

Abdel-Rahman, SM ;

Alander, SW ;

Bradford, LD ;

Leeder, JS .

PHARMACOGENOMICS JOURNAL, 2005, 5 (03) :173-182

[5] Limited association of the 2988G>A single nucleotide polymorphism with CYP2D6*41 in black subjects [J].

Gaedigk, A ;

Ndjountché, L ;

Leeder, JS ;

Bradford, LD .

CLINICAL PHARMACOLOGY & THERAPEUTICS, 2005, 77 (03) :228-230

[6]

Gaedigk A, 2014, PHARMACOGENOMICS, V15, P1175, DOI [10.2217/PGS.14.94, 10.2217/pgs.14.94]

[7] Characterization of a complex CYP2D6 genotype that caused an AmpliChip CYP450 Test® no-call in the clinical setting [J].

Gaedigk, Andrea ;

Riffel, Amanda K. ;

Garcia Berrocal, Belen ;

Garcia Solaesa, Virginia ;

Davila, Ignacio ;

Isidoro-Garcia, Maria .

CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2014, 52 (06) :799-807

[8]

Gaedigk A, 2011, PHARMACOGENOMICS, V12, P1617, DOI [10.2217/PGS.11.107, 10.2217/pgs.11.107]

[9] Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants [J].

Hicks, J. K. ;

Swen, J. J. ;

Thorn, C. F. ;

Sangkuhl, K. ;

Kharasch, E. D. ;

Ellingrod, V. L. ;

Skaar, T. C. ;

Mueller, D. J. ;

Gaedigk, A. ;

Stingl, J. C. .

CLINICAL PHARMACOLOGY & THERAPEUTICS, 2013, 93 (05) :402-408

[10] Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity [J].

Ingelman-Sundberg, M .

PHARMACOGENOMICS JOURNAL, 2005, 5 (01) :6-13

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