Comparison between MassARRAY and pyrosequencing for CYP2C19 and ABCB1 gene variants of clopidogrel efficiency genotyping

References

• Antman EM, Hand M, Armstrong PW, Bates ER, Green LA, Halasyamani LK, et al. 2008. 2007 Focused Update of the ACC/AHA 2004 Guidelines for the Management of Patients With ST-Elevation Myocardial Infarction: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines: developed in collaboration With the Canadian Cardiovascular Society endorsed by the American Academy of Family Physicians: 2007 Writing Group to Review New Evidence and Update the ACC/AHA 2004 Guidelines for the Management of Patients With ST-Elevation Myocardial Infarction, Writing on Behalf of the 2004 Writing Committee. Circulation 117:296–329.
   PubMed Web of Science ®Google Scholar
• Beitelshees AL, Voora D, Lewis JP. 2015. Personalized antiplatelet and anticoagulation therapy: applications and significance of pharmacogenomics. Pharmgenomics Pers Med 8:43–61.
   PubMed Web of Science ®Google Scholar
• Borecki K, Zawada I, Pawinska-Matecka A, Salkic NN, Karakiewicz B, Adler G. 2017. ABCB1 3435C > T and 2677G > T/A polymorphisms in Polish and Bosnian patients with Crohn's disease - A preliminary report. Bosn J Basic Med Sci 17:323–327.
   PubMed Web of Science ®Google Scholar
• Buchan BW, Peterson JF, Cogbill CH, Anderson DK, Ledford JS, White MN, et al. 2011. Evaluation of a microarray-based genotyping assay for the rapid detection of cytochrome P450 2C19 *2 and *3 polymorphisms from whole blood using nanoparticle probes. Am J Clin Pathol 136:604–608.
   PubMed Web of Science ®Google Scholar
• Carlquist JF, Knight S, Horne BD, Huntinghouse JA, Rollo JS, Muhlestein JB, et al. 2013. Cardiovascular risk among patients on clopidogrel anti-platelet therapy after placement of drug-eluting stents is modified by genetic variants in both the CYP2C19 and ABCB1 genes. Thromb Haemost 109:744–754.
   PubMed Web of Science ®Google Scholar
• Cayla G, Hulot JS, O’Connor SA, Pathak A, Scott SA, Gruel Y, et al. 2011. Clinical, angiographic, and genetic factors associated with early coronary stent thrombosis. JAMA 306:1765–1774.
   PubMed Web of Science ®Google Scholar
• Cervinski MA, Schwab MC, Lefferts JA, Lewis LD, Lebel KA, Tyropolis AM, et al. 2013. Establishment of a CYP2C19 genotyping assay for clinical use. Am J Clin Pathol 139:202–207.
   PubMed Web of Science ®Google Scholar
• Chae H, Kim M, Koh YS, Hwang BH, Kang MK, Kim Y, et al. 2013. Feasibility of a microarray-based point-of-care CYP2C19 genotyping test for predicting clopidogrel on-treatment platelet reactivity. Biomed Res Int 2013:1.
   Web of Science ®Google Scholar
• Choi JL, Kim BR, Kim JE, Woo KS, Kim KH, Kim JM, et al. 2014. Association between the microarray-based CYP2C19 genotyping assay and the platelet function test in cardiovascular patients receiving clopidogrel. Int J Lab Hematol 36:e80–e83.
   PubMed Web of Science ®Google Scholar
• Dai DP, Xu RA, Hu LM, Wang SH, Geng PW, Yang JF, et al. 2014. CYP2C9 polymorphism analysis in Han Chinese populations: building the largest allele frequency database. Pharmacogenomics J 14:85–92.
   PubMed Web of Science ®Google Scholar
• Ellis JA, Ong B. 2017. The MassARRAY® System for Targeted SNP Genotyping. Methods Mol Biol 1492:77–94.
   PubMedGoogle Scholar
• Ferguson RJ, De Morais SM, Benhamou S, Bouchardy C, Blaisdell J, Ibeanu G, et al. 1998. A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. J Pharmacol Exp Ther 284:356–361.
   PubMed Web of Science ®Google Scholar
• Fleitas T, Ibarrola-Villava M, Ribas G, Cervantes A. 2016. MassARRAY determination of somatic oncogenic mutations in solid tumors: Moving forward to personalized medicine. Cancer Treat Rev 49:57–64.
   PubMed Web of Science ®Google Scholar
• Fung KL, Gottesman MM. 2009. A synonymous polymorphism in a common MDR1 (ABCB1) haplotype shapes protein function. Biochim Biophys Acta 1794:860–871.
   PubMed Web of Science ®Google Scholar
• Gabriel S, Ziaugra L, Tabbaa D. 2009. SNP genotyping using the Sequenom MassARRAY iPLEX platform. Curr Protoc Hum Genet Chapter 2:Unit 2 12. DOI: 10.1002/0471142905.hg0212s60
   PubMedGoogle Scholar
• Ganoci L, Bozina T, Mirosevic Skvrce N, Lovric M, Mas P, Bozina N. 2017. Genetic polymorphisms of cytochrome P450 enzymes: CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in the Croatian population. Drug Metab Pers Ther 32:11–21.
   PubMedGoogle Scholar
• Genomes Project C, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, et al. 2015. A global reference for human genetic variation. Nature 526:68–74.
   PubMed Web of Science ®Google Scholar
• Ghasemi Z, Hashemi M, Ejabati M, Ebrahimi SM, Kheiri Manjili H, Sharafi A, et al. 2016. Development of a high-resolution melting analysis method for CYP2C19*17 genotyping in healthy volunteers. Avicenna J Med Biotechnol 8:193–199.
   PubMedGoogle Scholar
• Hu LM, Dai DP, Hu GX, Yang JF, Xu RA, Yang LP, et al. 2012. Genetic polymorphisms and novel allelic variants of CYP2C19 in the Chinese Han population. Pharmacogenomics 13:1571–1581.
   PubMed Web of Science ®Google Scholar
• Jani M, Barton A, Ho P. 2015. Pharmacogenetics of treatment response in psoriatic arthritis. Curr Rheumatol Rep 17:44.
   PubMed Web of Science ®Google Scholar
• Kazui M, Nishiya Y, Ishizuka T, Hagihara K, Farid NA, Okazaki O, et al. 2010. Identification of the human cytochrome P450 enzymes involved in the two oxidative steps in the bioactivation of clopidogrel to its pharmacologically active metabolite. Drug Metab Dispos 38:92–99.
   PubMed Web of Science ®Google Scholar
• Kubica A, Kasprzak M, Siller-Matula J, Koziński M, Pio Navarese E, Obońska K, et al. 2014. Time-related changes in determinants of antiplatelet effect of clopidogrel in patients after myocardial infarction. Eur J Pharmacol 742:47–54.
   PubMed Web of Science ®Google Scholar
• Kurose K, Sugiyama E, Saito Y. 2012. Population differences in major functional polymorphisms of pharmacokinetics/pharmacodynamics-related genes in Eastern Asians and Europeans: implications in the clinical trials for novel drug development. Drug Metab Pharmacokinet 27:9–54.
   PubMed Web of Science ®Google Scholar
• Li Y, Tang HL, Hu YF, Xie HG. 2012. The gain-of-function variant allele CYP2C19*17: a double-edged sword between thrombosis and bleeding in clopidogrel-treated patients. J Thromb Haemost 10:199–206.
   PubMed Web of Science ®Google Scholar
• Masimirembwa C, Bertilsson L, Johansson I, Hasler JA, Ingelman-Sundberg M. 1995. Phenotyping and genotyping of S-mephenytoin hydroxylase (cytochrome P450 2C19) in a Shona population of Zimbabwe. Clin Pharmacol Ther 57:656–661.
   PubMed Web of Science ®Google Scholar
• Mega JL, Close SL, Wiviott SD, Shen L, Hockett RD, Brandt JT, et al. 2009. Cytochrome p-450 polymorphisms and response to clopidogrel. N Engl J Med 360:354–362.
   PubMed Web of Science ®Google Scholar
• Mega JL, Simon T, Collet JP, Anderson JL, Antman EM, Bliden K, et al. 2010. Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis. JAMA 304:1821–1830.
   PubMed Web of Science ®Google Scholar
• Min KW, Kim WS, Jang SJ, Choi YD, Chang S, Jung SH, et al. 2016. MassARRAY, pyrosequencing, and PNA clamping for EGFR mutation detection in lung cancer tissue and cytological samples: a multicenter study. J Cancer Res Clin Oncol 142:2209–2216.
   PubMed Web of Science ®Google Scholar
• Nguyen TA, Diodati JG, Pharand C. 2005. Resistance to clopidogrel: a review of the evidence. J Am Coll Cardiol 45:1157–1164.
   PubMed Web of Science ®Google Scholar
• Oeth P, del Mistro G, Marnellos G, Shi T, van den Boom D. 2009. Qualitative and quantitative genotyping using single base primer extension coupled with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MassARRAY). Methods Mol Biol 578:307–343.
   PubMedGoogle Scholar
• Rytkin E, Mirzaev KB, Grishina EA, Smirnov VV, Ryzhikova KA, Sozaeva ZA, et al. 2017. Do CYP2C19 and ABCB1 gene polymorphisms and low CYP3A4 isoenzyme activity have an impact on stent implantation complications in acute coronary syndrome patients? Pharmgenomics Pers Med 10:243–245.
   PubMed Web of Science ®Google Scholar
• Santos PC, Soares RA, Santos DB, Nascimento RM, Coelho GL, Nicolau JC, et al. 2011. CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population. BMC Med Genet 12: DOI:10.1186/1471-2350-12-13
   Web of Science ®Google Scholar
• Scott SA, Sangkuhl K, Stein CM, Hulot JS, Mega JL, Roden DM, et al. 2013. Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clin Pharmacol Ther 94:317–323.
   PubMed Web of Science ®Google Scholar
• Simon T, Verstuyft C, Mary-Krause M, Quteineh L, Drouet E, Meneveau N, et al. 2009. Genetic determinants of response to clopidogrel and cardiovascular events. N Engl J Med 360:363–375.
   PubMed Web of Science ®Google Scholar
• Svidnicki MC, Silva-Costa SM, Ramos PZ, dos Santos NZ, Martins FT, Castilho AM, et al. 2015. Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX(R) technology. BMC Med Genet 16: DOI:10.1186/s12881-015-0232-8
   PubMed Web of Science ®Google Scholar
• Udell JA, Bonaca MP, Collet JP, Lincoff AM, Kereiakes DJ, Costa F, et al. 2016. Long-term dual antiplatelet therapy for secondary prevention of cardiovascular events in the subgroup of patients with previous myocardial infarction: a collaborative meta-analysis of randomized trials. Eur Heart J 37:390–399.
   PubMed Web of Science ®Google Scholar
• Wiviott SD, Braunwald E, McCabe CH, Montalescot G, Ruzyllo W, Gottlieb S, et al. 2007. Prasugrel versus clopidogrel in patients with acute coronary syndromes. N Engl J Med 357:2001–2015.
   PubMed Web of Science ®Google Scholar
• Yip VL, Hawcutt DB, Pirmohamed M. 2015. Pharmacogenetic Markers of Drug Efficacy and Toxicity. Clin Pharmacol Ther 98:61–70.
   PubMed Web of Science ®Google Scholar
• Zhai Y, He H, Ma X, Xie J, Meng T, Dong Y, et al. 2017. Meta-analysis of effects of ABCB1 polymorphisms on clopidogrel response among patients with coronary artery disease. Eur J Clin Pharmacol 73:843–854.
   PubMed Web of Science ®Google Scholar
• Zhang L, Cui G, Li Z, Wang H, Ding H, Wang DW. 2013. Comparison of high-resolution melting analysis, TaqMan Allelic discrimination assay, and sanger sequencing for Clopidogrel efficacy genotyping in routine molecular diagnostics. J Mol Diagn 15:600–606.
   PubMed Web of Science ®Google Scholar
• Zhou Q, Yu XM, Lin HB, Wang L, Yun QZ, Hu SN, et al. 2009. Genetic polymorphism, linkage disequilibrium, haplotype structure and novel allele analysis of CYP2C19 and CYP2D6 in Han Chinese. Pharmacogenomics J 9:380–394.
   PubMed Web of Science ®Google Scholar
• Zhuo ZL, Xian HP, Long Y, Liu C, Sun YY, Ma YT, et al. 2018. Association between CYP2C19 and ABCB1 polymorphisms and clopidogrel resistance in clopidogrel-treated Chinese patients. Anatol J Cardiol 19(2):123–129.
   PubMed Web of Science ®Google Scholar