메뉴 건너뛰기




Volumn 13, Issue 1, 2012, Pages 31-41

Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes

Author keywords

Acetylator genotype; Acetylator phenotype; Cryopreserved; Human hepatocyte; NAT2; SNP

Indexed keywords

ACYLTRANSFERASE; ADENINE; ARYLAMINE ACETYLTRANSFERASE; BIOLOGICAL MARKER; CYTOSINE; GUANINE; SULFADIMIDINE; THYMINE;

EID: 83755195441     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.11.122     Document Type: Article
Times cited : (107)

References (51)
  • 1
    • 26444539817 scopus 로고
    • Genetic control of isoniazid metabolism in man
    • Evans DA, Manley KA, McKusick VA. Genetic control of isoniazid metabolism in man. Br. Med. J. 2, 485-491 (1960).
    • (1960) Br. Med. J. , vol.2 , pp. 485-491
    • Evans, D.A.1    Manley, K.A.2    McKusick, V.A.3
  • 2
    • 0021813284 scopus 로고
    • N-acetylation pharmacogenetics
    • Weber WW, Hein DW. N-acetylation pharmacogenetics. Pharmacol. Rev. 37, 25-79 (1985). (Pubitemid 15081093)
    • (1985) Pharmacological Reviews , vol.37 , Issue.1 , pp. 25-79
    • Weber, W.W.1    Hein, D.W.2
  • 6
    • 26444618665 scopus 로고    scopus 로고
    • Arylamine N-acetyltransferases: What we learn from genes and genomes
    • DOI 10.1080/03602530500251204
    • Boukouvala S, Fakis G. Arylamine N-acetyltransferases: what we learn from genes and genomes. Drug Metab. Rev. 37, 511-564 (2005). (Pubitemid 41434161)
    • (2005) Drug Metabolism Reviews , vol.37 , Issue.3 , pp. 511-564
    • Boukouvala, S.1    Fakis, G.2
  • 7
  • 8
    • 56349101750 scopus 로고    scopus 로고
    • Arylamine N-acetyltransferases: Structural and functional implications of polymorphisms
    • Sim E, Lack N, Wang CJ et al. Arylamine N-acetyltransferases: structural and functional implications of polymorphisms. Toxicology 254, 170-183 (2008).
    • (2008) Toxicology , vol.254 , pp. 170-183
    • Sim, E.1    Lack, N.2    Wang, C.J.3
  • 10
    • 47749085094 scopus 로고    scopus 로고
    • Polymorphisms of human N-acetyltransferases and cancer risk
    • DOI 10.2174/138920008784892083
    • Agundez JA. Polymorphisms of human N-acetyltransferases and cancer risk. Curr. Drug Metab. 9, 520-531 (2008). (Pubitemid 352025183)
    • (2008) Current Drug Metabolism , vol.9 , Issue.6 , pp. 520-531
    • Agundez, J.A.G.1
  • 11
    • 47749095050 scopus 로고    scopus 로고
    • Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2
    • DOI 10.2174/138920008784892065
    • Walraven JM, Zang Y, Trent JO, Hein DW. Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2. Curr. Drug Metab. 9, 471-486 (2008). (Pubitemid 352025179)
    • (2008) Current Drug Metabolism , vol.9 , Issue.6 , pp. 471-486
    • Walraven, J.M.1    Zang, Y.2    Tent, J.O.3    Hein, D.W.4
  • 12
    • 67649243788 scopus 로고    scopus 로고
    • N-acetyltransferase SNPs: Emerging concepts serve as a paradigm for understanding complexities of personalized medicine
    • Hein DW. N-acetyltransferase SNPs: emerging concepts serve as a paradigm for understanding complexities of personalized medicine. Expert Opin. Drug Metab. Toxicol. 5, 353-366 (2009).
    • (2009) Expert Opin. Drug Metab. Toxicol. , vol.5 , pp. 353-366
    • Hein, D.W.1
  • 14
    • 0028829841 scopus 로고
    • Determination of human NAT2 acetylator genotype by restriction fragment-length polymorphism and allele-specific amplification
    • Doll MA, Fretland AJ, Deitz AC, Hein DW. Determination of human NAT2 acetylator genotype by restriction fragment-length polymorphism and allele-specific amplification. Anal. Biochem. 231, 413-420 (1995).
    • (1995) Anal. Biochem. , vol.231 , pp. 413-420
    • Doll, M.A.1    Fretland, A.J.2    Deitz, A.C.3    Hein, D.W.4
  • 15
    • 84947899485 scopus 로고    scopus 로고
    • A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
    • Rothman N, Garcia-Closas M, Chatterjee N et al. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat. Genet. 42, 978-984 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 978-984
    • Rothman, N.1    Garcia-Closas, M.2    Chatterjee, N.3
  • 16
    • 79955484827 scopus 로고    scopus 로고
    • A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background
    • Garcia-Closas M, Hein DW, Silverman D et al. A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background. Pharmacogenet. Genomics 21, 231-236 (2011).
    • (2011) Pharmacogenet. Genomics , vol.21 , pp. 231-236
    • Garcia-Closas, M.1    Hein, D.W.2    Silverman, D.3
  • 17
    • 77954913118 scopus 로고    scopus 로고
    • Codominant expression of N-acetylation and O-acetylation activities catalyzed by N-acetyltransferase 2 in human hepatocytes
    • Doll MA, Zang Y, Moeller T, Hein DW. Codominant expression of N-acetylation and O-acetylation activities catalyzed by N-acetyltransferase 2 in human hepatocytes. J. Pharmacol. Exp. Ther. 334, 540-544 (2010).
    • (2010) J. Pharmacol. Exp. Ther. , vol.334 , pp. 540-544
    • Doll, M.A.1    Zang, Y.2    Moeller, T.3    Hein, D.W.4
  • 18
    • 0035169575 scopus 로고    scopus 로고
    • Comprehensive human NAT2 genotype method using single nucleotide polymorphism-specific polymerase chain reaction primers and fluorogenic probes
    • DOI 10.1006/abio.2000.4892
    • Doll MA, Hein, DW. Comprehensive human NAT2 genotype method using single nucleotide polymorphism-specific polymerase chain reaction primers and fluorogenic probes. Anal. Biochem. 288, 106-108 (2001). (Pubitemid 32047653)
    • (2001) Analytical Biochemistry , vol.288 , Issue.1 , pp. 106-108
    • Doll, M.A.1    Hein, D.W.2
  • 19
    • 33645117090 scopus 로고    scopus 로고
    • N-acetyltransferase 2 genetic polymorphism: Effects of carcinogen and haplotype on urinary bladder cancer risk
    • Hein DW. N-acetyltransferase 2 genetic polymorphism: effects of carcinogen and haplotype on urinary bladder cancer risk. Oncogene 25, 1649-1658 (2006).
    • (2006) Oncogene , vol.25 , pp. 1649-1658
    • Hein, D.W.1
  • 22
    • 33646527381 scopus 로고    scopus 로고
    • The influence of various genotypes on the metabolic activity of NAT2 in a Chinese population
    • Chen B, Zhang WX, Cai WM. The influence of various genotypes on the metabolic activity of NAT2 in a Chinese population. Eur. J. Clin. Pharmacol. 62, 355-359 (2006).
    • (2006) Eur. J. Clin. Pharmacol. , vol.62 , pp. 355-359
    • Chen, B.1    Zhang, W.X.2    Cai, W.M.3
  • 23
    • 0025364134 scopus 로고
    • Correlation between acetylator phenotypes and genotypes of polymorphic arylamine N-acetyltransferase in human liver
    • Deguchi T, Mashimo M, Suzuki T. Correlation between acetylator phenotypes and genotypes of polymorphic arylamine N-acetyltransferase in human liver. J. Biol. Chem. 265, 12757-12760 (1990). (Pubitemid 20234207)
    • (1990) Journal of Biological Chemistry , vol.265 , Issue.22 , pp. 12757-12760
    • Deguchi, T.1    Mashimo, M.2    Suzuki, T.3
  • 25
    • 0030885096 scopus 로고    scopus 로고
    • A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid
    • Smith CA, Wadelius M, Gough AC, Harrison DJ, Wolf CR, Rane A. A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid. J. Med. Genet. 34, 758-760 (1997). (Pubitemid 27406199)
    • (1997) Journal of Medical Genetics , vol.34 , Issue.9 , pp. 758-760
    • Smith, C.A.D.1    Wadelius, M.2    Gough, A.C.3    Harrison, D.J.4    Wolf, C.R.5    Rane, A.6
  • 27
    • 67651091328 scopus 로고    scopus 로고
    • Effects of NAT2 polymorphism on SASP pharmacokinetics in Chinese population
    • Ma JJ, Liu CG, Li JH, Cao XM, Sun SL, Yao X. Effects of NAT2 polymorphism on SASP pharmacokinetics in Chinese population. Clin. Chim. Acta 407, 30-35 (2009).
    • (2009) Clin. Chim. Acta , vol.407 , pp. 30-35
    • Ma, J.J.1    Liu, C.G.2    Li, J.H.3    Cao, X.M.4    Sun, S.L.5    Yao, X.6
  • 29
    • 0029163589 scopus 로고
    • Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: Correlation with phenotypic activity
    • Cascorbi I, Drakoulis N, Brockmoller J, Maurer A, Sperling K, Roots I. Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity. Am. J. Hum. Genet. 57, 581-592 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 581-592
    • Cascorbi, I.1    Drakoulis, N.2    Brockmoller, J.3    Maurer, A.4    Sperling, K.5    Roots, I.6
  • 30
    • 0023930708 scopus 로고
    • Genetic control of acetyl coenzyme A-dependent arylamine N-acetyltransferase, hydrazine N-acetyltransferase, and N-hydroxy-arylamine O-acetyltransferase enzymes in C57BL/6J, A/J, AC57F1, and the rapid and slow acetylator A.B6 and B6.A congenic inbred mouse
    • Hein DW, Trinidad A, Yerokun T, Ferguson RJ, Kirlin WG, Weber WW. Genetic control of acetyl coenzyme A-dependent arylamine N-acetyltransferase, hydrazine N-acetyltransferase, and N-hydroxy-arylamine O-acetyltransferase enzymes in C57BL/6J, A/J, AC57F1, and the rapid and slow acetylator A.B6 and B6.A congenic inbred mouse. Drug Metab. Dispos. 16, 341-347 (1988).
    • (1988) Drug Metab. Dispos. , vol.16 , pp. 341-347
    • Hein, D.W.1    Trinidad, A.2    Yerokun, T.3    Ferguson, R.J.4    Kirlin, W.G.5    Weber, W.W.6
  • 31
    • 0026319473 scopus 로고
    • Polymorphic and monomorphic expression of arylamine carcinogen N-acetyltransferase isozymes in tumor target organ cytosols of Syrian-hamsters congenic at the polymorphic acetyltransferase locus
    • Hein DW, Rustan TD, Bucher KD, Miller LS. Polymorphic and monomorphic expression of arylamine carcinogen N-acetyltransferase isozymes in tumor target organ cytosols of Syrian-hamsters congenic at the polymorphic acetyltransferase locus. J. Pharmacol. Exp. Ther. 259, 699-704 (1991).
    • (1991) J. Pharmacol. Exp. Ther. , vol.259 , pp. 699-704
    • Hein, D.W.1    Rustan, T.D.2    Bucher, K.D.3    Miller, L.S.4
  • 32
    • 0028301762 scopus 로고
    • Construction of Syrian hamster lines congenic at the polymorphic acetyltransferase locus (NAT2): Acetylator genotype-dependent N- and O- acetylation of arylamine carcinogens
    • DOI 10.1006/taap.1994.1003
    • Hein DW, Doll MA, Rustan TD, Gray K, Ferguson RJ, Feng Y. Construction of Syrian hamster lines congenic at the polymorphic acetyltransferase locus (NAT2): acetylator genotype-dependent N- and O-acetylation of arylamine carcinogens. Toxicol. Appl. Pharmacol. 124, 16-24 (1994). (Pubitemid 24079030)
    • (1994) Toxicology and Applied Pharmacology , vol.124 , Issue.1 , pp. 16-24
    • Hein, D.W.1    Doll, M.A.2    Rustan, T.D.3    Gray, K.4    Ferguson, R.J.5    Feng, Y.6
  • 33
    • 0026077162 scopus 로고
    • Acetylator phenotype-dependent and -independent expression of arylamine N-acetyltransferase isozymes in rapid and slow acetylator inbred rat liver
    • Hein DW, Rustan TD, Bucher KD, Martin WJ, Furman EJ. Acetylator phenotype-dependent and -independent expression of arylamine N-acetyltransferase isozymes in rapid and slow acetylator inbred rat liver. Drug Metab. Dispos. 19, 933-937 (1991).
    • (1991) Drug Metab. Dispos. , vol.19 , pp. 933-937
    • Hein, D.W.1    Rustan, T.D.2    Bucher, K.D.3    Martin, W.J.4    Furman, E.J.5
  • 34
    • 57349197905 scopus 로고    scopus 로고
    • Systemic functional expression of N-acetyltransferase polymorphism in the F344 Nat2 congenic rat
    • Hein DW, Bendaly J, Neale JR, Doll MA. Systemic functional expression of N-acetyltransferase polymorphism in the F344 Nat2 congenic rat. Drug Metab. Dispos. 36, 2452-2459 (2008).
    • (2008) Drug Metab. Dispos. , vol.36 , pp. 2452-2459
    • Hein, D.W.1    Bendaly, J.2    Neale, J.R.3    Doll, M.A.4
  • 35
    • 0025967717 scopus 로고
    • Monomorphic and polymorphic human arylamine N-acetyltransferases: A comparison of liver isozymes and expressed products of two cloned genes
    • Grant DM, Blum M, Beer M, Meyer UA. Monomorphic and polymorphic human arylamine N-acetyltransferases: A comparison of liver isozymes and expressed products of two cloned genes. Mol. Pharmacol. 39, 184-191 (1991).
    • (1991) Mol. Pharmacol. , vol.39 , pp. 184-191
    • Grant, D.M.1    Blum, M.2    Beer, M.3    Meyer, U.A.4
  • 36
    • 0027281895 scopus 로고
    • Metabolic activation and deactivation of arylamine carcinogens by recombinant human NAT1 and polymorphic NAT2 acetyltransferases
    • Hein DW, Doll MA, Rustan TD et al. Metabolic activation and deactivation of arylamine carcinogens by recombinant human NAT1 and polymorphic NAT2 acetyltransferases. Carcinogenesis 14, 1633-1638 (1993). (Pubitemid 23249371)
    • (1993) Carcinogenesis , vol.14 , Issue.8 , pp. 1633-1638
    • Hein, D.W.1    Doll, M.A.2    Rustan, T.D.3    Gray, K.4    Feng, Y.5    Ferguson, R.J.6    Grant, D.M.7
  • 37
    • 0028286844 scopus 로고
    • Molecular genetics of human polymorphic N-acetyltransferase: Enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes
    • Hein DW, Ferguson RJ, Doll MA, Rustan TD, Gray K. Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes. Hum. Mol. Genet. 3, 729-734 (1994). (Pubitemid 24148616)
    • (1994) Human Molecular Genetics , vol.3 , Issue.5 , pp. 729-734
    • Hein, D.W.1    Ferguson, R.J.2    Doll, M.A.3    Rustan, T.D.4    Gray, K.5
  • 38
    • 0029117480 scopus 로고
    • Metabolic activation of N-hydroxyarylamines and N-hydroxyarylamides by 16 recombinant human NAT2 allozymes: Effects of 7 specific NAT2 nucleic acid substitutions
    • Hein DW, Doll MA, Rustan TD, Ferguson RJ. Metabolic activation of N-hydroxyarylamines and N-hydroxyarylamides by 16 recombinant human NAT2 allozymes: effects of 7 specific NAT2 nucleic acid substitutions. Cancer Res. 55, 3531-3536 (1995).
    • (1995) Cancer Res. , vol.55 , pp. 3531-3536
    • Hein, D.W.1    Doll, M.A.2    Rustan, T.D.3    Ferguson, R.J.4
  • 39
  • 40
    • 0035052559 scopus 로고    scopus 로고
    • Functional characterization of human N-acetyltransferase 2 (NAT2) single nucleotide polymorphisms
    • DOI 10.1097/00008571-200104000-00004
    • Fretland AJ, Leff MA, Doll MA, Hein DW. Functional characterization of human N-acetyltransferase 2 (NAT2) single nucleotide polymorphisms. Pharmacogenetics 11, 207-215 (2001). (Pubitemid 32319870)
    • (2001) Pharmacogenetics , vol.11 , Issue.3 , pp. 207-215
    • Fretland, A.J.1    Leff, M.A.2    Doll, M.A.3    Hein, D.W.4
  • 41
    • 33746351519 scopus 로고    scopus 로고
    • Effects of single nucleotide polymorphisms in human N-acetyltransferase 2 on metabolic activation (O-acetylation) of heterocyclic amine carcinogens
    • DOI 10.1002/ijc.21957
    • Hein DW, Fretland AJ Doll MA. Effects of single nucleotide polymorphisms in human N-acetyltransferase 2 on metabolic activation (O-acetylation) of heterocyclic amine carcinogens. Int. J. Cancer 119, 1208-1211 (2006). (Pubitemid 44116930)
    • (2006) International Journal of Cancer , vol.119 , Issue.5 , pp. 1208-1211
    • Hein, D.W.1    Fretland, A.J.2    Doll, M.A.3
  • 42
    • 9244240756 scopus 로고    scopus 로고
    • 341C (Ile114Thr) polymorphism of N-acetyltransferase 2 yields slow acetylator phenotype by enhanced protein degradation
    • DOI 10.1097/00008571-200411000-00002
    • Zang Y, Zhao S, Doll MA, States JC, Hein DW. The T341C (Ile114Thr) polymorphism of N-acetyltransferase 2 yields slow acetylator phenotype by enhanced protein degradation. Pharmacogenetics 14, 717-723 (2004). (Pubitemid 39552786)
    • (2004) Pharmacogenetics , vol.14 , Issue.11 , pp. 717-723
    • Zang, Y.1    Zhao, S.2    Doll, M.A.3    States, J.C.4    Hein, D.W.5
  • 43
    • 34548063942 scopus 로고    scopus 로고
    • Functional characterization of single-nucleotide polymorphisms and haplotypes of human N-acetyltransferase 2
    • DOI 10.1093/carcin/bgm085
    • Zang Y, Doll MA, Zhao S, States JC, Hein DW. Functional characterization of single-nucleotide polymorphisms and haplotypes of human N-acetyltransferase 2. Carcinogenesis 28, 1665-1671 (2007). (Pubitemid 47289027)
    • (2007) Carcinogenesis , vol.28 , Issue.8 , pp. 1665-1671
    • Zang, Y.1    Doll, M.A.2    Zhao, S.3    States, C.J.4    Hein, D.W.5
  • 44
    • 80052735831 scopus 로고    scopus 로고
    • Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype
    • Selinski S, Blaszkewicz M, Lehmann ML et al. Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype. Pharmacogenet. Genomics 21(10), 673-678 (2011).
    • (2011) Pharmacogenet. Genomics , vol.21 , Issue.10 , pp. 673-678
    • Selinski, S.1    Blaszkewicz, M.2    Lehmann, M.L.3
  • 47
    • 79953743009 scopus 로고    scopus 로고
    • Arylamine N-acetyltransferase 2 (NAT2) genetic diversity and traditional subsistence: A worldwide population survey
    • Sabbagh A, Darlu P, Crouau-Roy B, Poloni ES. Arylamine N-acetyltransferase 2 (NAT2) genetic diversity and traditional subsistence: A worldwide population survey. PLoS ONE 6, e18507 (2011).
    • (2011) PLoS ONE , vol.6
    • Sabbagh, A.1    Darlu, P.2    Crouau-Roy, B.3    Poloni, E.S.4
  • 49
    • 18244393817 scopus 로고    scopus 로고
    • Genotyping of the N-acetyltransferase 2 polymorphism in the prediction of adverse drug reactions to isoniazid in Japanese patients
    • Hiratsuka M, Kishikawa Y, Takekuma Y et al. Genotyping of the N-acetyltransferase 2 polymorphism in the prediction of adverse drug reactions to isoniazid in Japanese patients. Drug Metab. Pharmacokinet. 17, 357-362 (2002).
    • (2002) Drug Metab. Pharmacokinet. , vol.17 , pp. 357-362
    • Hiratsuka, M.1    Kishikawa, Y.2    Takekuma, Y.3
  • 50
    • 35348922264 scopus 로고    scopus 로고
    • Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis
    • Cho HJ, Koh WJ, Ryu YJ et al. Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis. Tuberculosis 87, 551-556 (2007).
    • (2007) Tuberculosis , vol.87 , pp. 551-556
    • Cho, H.J.1    Koh, W.J.2    Ryu, Y.J.3
  • 51
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • Teslovich TM, Musunuru K, Smith AV et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 7071-7073 (2010).
    • (2010) Nature , vol.466 , pp. 7071-7073
    • Teslovich, T.M.1    Musunuru, K.2    Smith, A.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.