Resolution of a Clinical AmpliChip CYP450 Test™ No Call: Discovery and Characterization of Novel CYP2D6*1 Haplotypes

References

• Zhou SF . Polymorphism of human cytochrome P450 2D6 and its clinical significance: part I . Clin. Pharmacokinet.48 ( 11 ), 689 – 723 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Zhou SF . Polymorphism of human cytochrome P450 2D6 and its clinical significance: part II . Clin. Pharmacokinet.48 ( 12 ), 761 – 804 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• The Human Cytochrome P450 (CYP) Allele Nomenclature database ( 2014 ). www.cypalleles.ki.se
   Google Scholar
• Gaedigk A . Complexities of CYP2D6 gene analysis and interpretation . Int. Rev. Psychiatry.25 ( 5 ), 534 – 553 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Hicks JK , SwenJJ , GaedigkA . Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization . Curr. Drug Metab.15 ( 2 ), 218 – 232 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Zanger UM , RaimundoS , EichelbaumM . Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry . Naunyn-Schmiedeberg’s Arch. Pharmacol.369 , 23 – 37 ( 2004 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , LeederJS . CYP2D6 and pharmacogenomics: where does future research need to focus? Part 1: technical aspects . Pharmacogenomics15 ( 4 ), 407 – 410 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Leeder JS , GaedigkA . CYP2D6 and pharmacogenomics: where does future research need to focus? Part 2: clinical aspects . Pharmacogenomics15 ( 8 ), 1055 – 1058 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Crews KR , GaedigkA , DunnenbergerHMet al. Clinical Pharmacogenetics Implementation Consortium Guidelines for Cytochrome P450 2D6 genotype and codeine therapy: 2014 update . Clin. Pharmacol. Ther.95 ( 4 ), 376 – 382 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Hicks JK , SwenJJ , ThornCFet al. Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants . Clin. Pharmacol. Ther.93 ( 5 ), 402 – 408 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Swen JJ , NijenhuisM , De BoerAet al. Pharmacogenetics: from bench to byte – an update of guidelines . Clin. Pharmacol. Ther.89 ( 5 ), 662 – 673 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• National Center for Biotechnology Information (NCBI) Genetic Testing Registry (GTR) ( 2014 ). www.ncbi.nlm.nih.gov/gtr/tests/?Term=cyp2d6
   Google Scholar
• Pharmacogenomics Knowledge Base (PharmGKB) genetics tests ( 2014 ).  www.pharmgkb.org/views/viewGeneticTests.action
   Google Scholar
• Amplichip. AmpliChip CYP450 Test, CE-IVD, package insert . Roche Molecular Systems Inc., NJ, USA ( 2009 ).
   Google Scholar
• Gaedigk A , HernandezJ , Garcia-SolaesaV , SanchezS , Isidoro-GarciaM . Detection and characterization of the CYP2D6*9x2 gene duplication in two Spanish populations: resolution of AmpliChip CYP450 test no-calls . Pharmacogenomics12 ( 11 ), 1617 – 1622 ( 2011 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , Isidoro-GarciaM , PearceREet al. Discovery of the nonfunctional CYP2D6*31 allele in Spanish, Puerto Rican, and US Hispanic populations . Eur. J. Clin. Pharmacol.66 ( 9 ), 859 – 864 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , RiffelAK , BerrocalBG , SolaesaVG , DavilaI , Isidoro-GarciaM . Characterization of a complex CYP2D6 genotype that caused an AmpliChip CYP450 Test® no-call in the clinical setting . Clin. Chem. Lab. Med.52 ( 6 ), 799 – 807 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , NdjountcheL , DivakaranKet al. Cytochrome P4502D6 (CYP2D6) gene locus heterogeneity: characterization of gene duplication events . Clin. Pharmacol. Ther.81 ( 2 ), 242 – 251 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , SimonSD , PearceRE , BradfordLD , KennedyMJ , LeederJS . The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype . Clin. Pharmacol. Ther.83 ( 2 ), 234 – 242 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , Montane JaimeLK , BertinoJS Jr.et al. Identification of Novel CYP2D7–2D6 hybrids: non-functional and functional variants . Front. Pharmacol.1 , 121 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , TwistGP , LeederJS . CYP2D6, SULT1A1 and UGT2B17 copy number variation: quantitative detection by multiplex PCR . Pharmacogenomics13 ( 1 ), 91 – 111 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , FuhrU , JohnsonC , BerardLA , BradfordD , LeederJS . CYP2D7–2D6 hybrid tandems: identification of novel CYP2D6 duplication arrangements and implications for phenotype prediction . Pharmacogenomics11 ( 1 ), 43 – 53 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Sim SC , DalyAK , GaedigkA . CYP2D6 update: revised nomenclature for CYP2D7/2D6 hybrid genes . Pharmacogenet. Genomics22 ( 9 ), 692 – 694 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Lee SJ , LeeSS , JungHJet al. Discovery of novel functional variants and extensive evaluation of CYP2D6 genetic polymorphisms in Koreans . Drug. Metab. Dispos.37 ( 7 ), 1464 – 1470 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Broad Institute Haploview . www.broad.mit.edu/mpg/haploview  
   Google Scholar
• Lee SS , ChaEY , JungHJet al. Genetic polymorphism of hepatocyte nuclear factor-4alpha influences human cytochrome P450 2D6 activity . Hepatology48 ( 2 ), 635 – 645 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Ryu JY , SongIS , SunwooYEet al. Development of the “Inje cocktail” for high-throughput evaluation of five human cytochrome P450 isoforms in vivo . Clin. Pharmacol. Ther.82 ( 5 ), 531 – 540 ( 2007 ).
   PubMed Web of Science ®Google Scholar
• Johansson I , OscarsonM , YueQ-Y , BertilssonL , SjöqvistF , Ingelman-SundbergM . Genetic analysis of the chinese cytochrome P4502D locus: characterization of variant CYP2D6 genes in subjects with diminished capacity for debrisoquine hydroxylation . Mol. Pharmacol.46 , 452 – 459 ( 1994 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , BradfordLD , AlanderSW , LeederJS . CYP2D6*36 gene arrangements within the CYP2D6 locus: association of CYP2D6*36 with poor metabolizer status . Drug Metab. Dispos.34 ( 4 ), 563 – 569 ( 2006 ).
   PubMed Web of Science ®Google Scholar
• Wand AP . Transient citalopram-induced auditory hallucinations in a patient with Parkinson’s disease and depression . Aust. N. Z. J. Psychiatry46 ( 2 ), 178 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Schuld A , ArchelosJJ , FriessE . Visual hallucinations and psychotic symptoms during treatment with selective serotonin reuptake inhibitors: is the sigma receptor involved?J. Clin. Psychopharmacol.20 ( 5 ), 579 – 580 ( 2000 ).
   PubMed Web of Science ®Google Scholar
• Richelson E , SouderT . Binding of antipsychotic drugs to human brain receptors focus on newer generation compounds . Life Sci.68 ( 1 ), 29 – 39 ( 2000 ).
   PubMed Web of Science ®Google Scholar
• Lopez-Rodriguez R , CabaleiroT , OchoaDet al. Pharmacodynamic genetic variants related to antipsychotic adverse reactions in healthy volunteers . Pharmacogenomics14 ( 10 ), 1203 – 1214 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Llerena A , BereczR , Penas-LledoE , SuvegesA , FarinasH . Pharmacogenetics of clinical response to risperidone . Pharmacogenomics14 ( 2 ), 177 – 194 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Wei Z , WangL , YuTet al. Histamine H4 receptor polymorphism: a potential predictor of risperidone efficacy . J. Clin. Psychopharmacol.33 ( 2 ), 221 – 225 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Wei Z , WangL , ZhangMet al. A pharmacogenetic study of risperidone on histamine H3 receptor gene (HRH3) in Chinese Han schizophrenia patients . J. Psychopharmacol.26 ( 6 ), 813 – 818 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Gaedigk A , FrankD , FuhrU . Identification of a novel non-functional CYP2D6 allele, CYP2D6*69, in a Caucasian poor metabolizer individual . Eur. J. Clin. Pharmacol.65 , 97 – 100 ( 2009 ).
   PubMed Web of Science ®Google Scholar
• Von Ahsen N , TzvetkovM , KarunajeewaHAet al. CYP2D6 and CYP2C19 in Papua New Guinea: high frequency of previously uncharacterized CYP2D6 alleles and heterozygote excess . Int. J. Mol. Epidemiol. Genet.1 ( 4 ), 310 – 319 ( 2010 ).
   PubMedGoogle Scholar
• Affymetrix DMET plus solution ( 2014 ). www.affymetrix.com/catalog/131412/affy/dmet-plus-solution#1_1
   Google Scholar
• Luminex xTAG CYP2D6 kit ( 2014 ). www.luminexcorp.com/products/assays/clinicaldiagnostics/xtagcyp2d6
   Google Scholar
• Dodgen TM , HochfeldWE , FicklHet al. Introduction of the AmpliChip CYP450 test to a South African cohort: a platform comparative prospective cohort study . BMC Med. Genet.14 , 20 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Montane Jaime LK , LallaA , SteimerW , GaedigkA . Characterization of the CYP2D6 gene locus and metabolic activity in Indo- and Afro-Trinidadians: discovery of novel allelic variants . Pharmacogenomics14 ( 3 ), 261 – 276 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Qian JC , XuXM , HuGXet al. Genetic variations of human CYP2D6 in the Chinese Han population . Pharmacogenomics14 ( 14 ), 1731 – 1743 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Sim SC , Ingelman-SundbergM . Update on Allele Nomenclature for Human Cytochromes P450 and the Human Cytochrome P450 Allele (CYP-Allele) Nomenclature Database . Methods. Mol. Biol.987 , 251 – 259 ( 2013 ).
   PubMedGoogle Scholar