Genetic variation in carboxylesterase genes and susceptibility to isoniazid-induced hepatotoxicity

Pharmacogenomics Journal

Volumn 10, Issue 6, 2010, Pages 524-536

  Yamada, S ^a,b   Richardson, K ^c   Tang, M ^d   Halaschek Wiener, J ^a   Cook, V J ^d,e   Fitzgerald, J M ^d   Elwood, K ^d   Marra, F ^d,e   Brooks Wilson, A ^a,f  

^a BRITISH COLUMBIA CANCER AGENCY   (Canada)

^b RITSUMEIKAN UNIVERSITY   (Japan)

^c VANCOUVER COASTAL HEALTH RESEARCH INSTITUTE   (Canada)

^d BRITISH COLUMBIA CENTRE FOR DISEASE CONTROL   (Canada)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f SIMON FRASER UNIVERSITY   (Canada)

Author keywords

case control study; genetic association; haplotype; pharmacogenetics; single nucleotide polymorphism; tuberculosis

Indexed keywords

CARBOXYLESTERASE; ISONIAZID;

ADULT; AGED; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CARBOXYLESTERASE 1 GENE; CARBOXYLESTERASE 2 GENE; CARBOXYLESTERASE 4 GENE; CARBOXYLESTERASE GENE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; LATENT TUBERCULOSIS; LIVER TOXICITY; MALE; MARKER GENE; NUCLEOTIDE SEQUENCE; PHARMACOGENETICS; PRIORITY JOURNAL; SIDE EFFECT; SINGLE NUCLEOTIDE POLYMORPHISM; TOXIC HEPATITIS; TRANSLATION INITIATION;

ADULT; AGED; CARBOXYLESTERASE; CARBOXYLIC ESTER HYDROLASES; CASE-CONTROL STUDIES; DRUG-INDUCED LIVER INJURY; FEMALE; GENE DELETION; HUMANS; ISONIAZID; LATENT TUBERCULOSIS; LINKAGE DISEQUILIBRIUM; LIVER; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 78649329485     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/tpj.2010.5     Document Type: Article

References (57)

1. FitzGerald JM, Wang L, Elwood RK. Tuberculosis: control of the disease among aboriginal people in Canada. CMAJ 2000; 162: 351-355.
2. FitzGerald JM. Optimizing tuberculosis control in the inner city. CMAJ 1999; 160: 821-822.
3. Hernandez E, Kumimoto D, Wang L, Rogrigues M, Black W, Elwood RK et al. Predictors for clustering among TB cases in Vancouver: a four year molecular epidemiology study. CMAJ 2002; 167: 349-352.
4. Durand F, Jebrak G, Pessayre D, Fournier M, Bernuau J. Hepatotoxicity of antitubercular treatments. Rationale for monitoring liver status. Drug Saf 1996; 15: 394-405.
5. Dossing M, Wilcke JT, Askgaard DS, Nybo B. Liver injury during antituberculosis treatment: an 11-year study. Tuber Lung Dis 1996; 77: 335-340.
6. Nolan CM, Goldberg SV, Buskin SE. Hepatotoxicity associated with isoniazid preventive therapy: a 7-survey from public health tuberculosis clinic. JAMA 1999; 281: 1014-1018.
7. Schaberg T, Gialdroni-Grassi G, Huchon G, Leophonte P, Manresa F, Woodhead M. An analysis of decisions by European general practitioners to admit to hospital patients with lower respiratory tract infections. The European Study Group of Community Acquired Pneumonia (ESOCAP) of the European Respiratory Society. Throax 1996; 51: 1017-1022.
8. Hwang SJ, Lee SD, Li CP, Lu RH, Chan CY, Wu JC. Clinical Study of cryoglobulinaemia in Chinese patients with chronic hepatitis C. J Gastroenterol Hepatol 1997; 12: 513-517.
9. Pande JN, Singh SP, Khilnani GC, Khilnani S, Tandon RK. Risk factors for hepatotoxicity from antituberculosis drugs: a case-control study. Thorax 1996; 51: 132-136.
10. Yee D, Valiquette C, Pelletier M, Parisien I, Rocher I, Menzies D. Incidence of serious side effects from first-line antituberculosis drugs among patients treated for active tuberculosis. Am J Respir Crit Care Med 2003; 167: 1472-1477.
11. Steele MA, Burk RF, DesPrez RM. Toxic hepatitis with isoniazid and rifampin a meta-analysis. Chest 1991; 99: 465-471.
12. Saram GR, Imanuel C, Kailasam S, Narayana ASL, Venkatesan P. Rifampin-induced release of hydrazine from isoniazid. A possible cause of hepatitis during treatment of tuberculosis with regiments containing isoniazid and rifampin. Am Rev Dis 1986; 133: 1072-1075.
13. Mitchell JR, Thorgeisson UP, Black M, Timbrell JA, Snodgrass WR, Potter WZ et al. Increased incidence of isoniazid hepatitis in rapid acetylators: possible relation to hydranize metabolites. Clin Parmacol Ther 1975; 18: 70-79.
14. Black M, Mitchell JR, Zimmerman HJ, Ishak KG, Elper GR. Isoniazid-associated hepatitis in 114 patients. Gastroenterology 1975; 69: 289-302.
15. Huang YS, Chern HD, Su WJ, Wu JC, Lai SL, Yang SY et al. Polymorphism of the N-acetyltransferase 2 gene as a susceptibility risk factor of antituberculosis drug-induced hepatitis. Hepatology 2002; 35: 883-889.
16. Ohno M, Yamaguchi I, Yamamoto I, Fukuda T, Yokota S, Maekura R et al. Slow N-acetyltransferase 2 genotype affects the incidence of isoniazid and rifampicin-induced hepatotoxicity. Int J Tuber Lung Dis 2000; 4: 256-261.
17. Vuilleumier N, Rossier MF, Chiappe A, Deqoumois F, Dayer P, Mermillod B et al. CYP2E1 genotype and isoniazid-induced hepato-toxicity in patients treated for latent tuberculosis. Eur J Clin Pharmacol 2006; 62: 423-429.
18. Cho HJ, Koh WJ, Ryu YJ, Ki CS, Nam MH, Kim JW et al. Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis. Tuberculosis 2007; 87: 551-556.
19. Sunahara S, Urano M, Ogawa M, Yoshida S, Mukoyama H, Kawai K. Genetical aspect of isoniazid metabolism. Jinrui Idengaku Zasshi 1963; 187: 93-111.
20. Kita T, Tanigawara Y, Chikazawa S, Hatanaka H, Sakeda T, Komada F et al. N-acetyltransferase 2 genotype correlated with isoniazid acetylation in Japanese tuberculous patients. Biol Pharm Bull 2001; 24: 544-549.
21. Dickinson DS, Bailey WC, Hischowitz BI, Soong SJ, Eidus L, Hodgkin MM. Risk factors for isoniazid (INH)-induced liver dysfunction. J Clin Gastroenterol 1984; 118: 271-279.
22. Online Mendelian Inheritance in Man, OMIM:. Carboxylesterase-3 (CES-3) John Hopkins University: Baltimore, MD, MIM Number: 605279 http://www.ncbi.nlm. gov/omim/.
23. The UCSC Genome Bioinformatics Genome Browser: http://geno-me.ucsc.edu/ index.html/org =Human.
24. Ensembl Genome Browser: http://www.ensembl.org/index.html.
25. Satoh H, Hosokawa M. Structure, function and regulation of carbox-ylesterases. Chem Biol Interact 2006; 162: 195-211.
26. NCBI Browser: http://www.ncbi.nlm.nih.gov/.
27. EASL International Consensus Conference on Hepatitis C. Paris, 26-28 February 1999
28. Consensus Statement. European Association for the Study of the Liver. J Hepatol 1999; 30: 956-961.
29. VISTA Browser: http://pipeline.lbl.gov/cgi-bin/gateway2?bg = hg1.
30. Hena G, Stephen PM. Conserved noncoding sequences among cultivated cereal genomes identify candidate regulatory sequence elements and patterns of promoter evolution. Plant Cell 2003; 15: 1143-1158.
31. Rozen S, Skaletsky H. Primer3 on WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132: 365-386.
32. In Silico PCR http://qsnp.gen.kyushu-u.ac.jp/genome/InSilicoPCR.html.
33. Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Snez J, Grehan N et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Gent 2004; 41: 508-517.
34. Barrett J, Fry B, Maller J, Daly M. Haploview: analysis and visualization of LD and haplotype maps. 2005 Available at: http://www.broad.mit.edu/ mpg/haploview/).
35. Shin NR, Yoon SY, Shin JH, Kim YJ, Rhie GE, Kim BS et al. Development of enrichment semi-nested PCR for Clostridium botulinum types A, B, E and F and its application to Korean environmental samples. Mol Cell 2007; 24: 329-337.
36. Nickerson DA, Tobe VO, Taylor SL. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997; 25: 2745-2751.
37. Gordon D, Abajian C, Green P. Consed: a graphical tool for sequence finishing. Genome Res 1998; 8: 195-202.
38. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. JR Stat Soc B 1995; 57: 289-300.
39. Lake SL, Lyon H, Tantisira K, Silverman EK, Weiss ST, Laird NM et al. Estimation and tests of haplotype-environment interaction with linkage phase is ambiguous. Hum Hered 2003; 55: 56-65.
40. Sunyaev S, Ramensky V, Bork P. Towards a structure basis of human non-synonymous single nucleotide polymorphisms. Trends Genet 2000; 16: 198-200. Available at: http://genetics.bwh.harvard.edu/cgibin/ pph/polyphen.cgi ).
41. Sunyaev S, Ramensky V, Koch I, Lathe III W, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10: 591-597.
42. Sorting Intolerant From Tolerant http://blocks.fhcrc.org/sift//SIFT.html.
43. Tanimoto K, Kaneyasu M, Shimokuni T, Hiyama K, Nishiyama M. Human carboxylesterase 1A2 expressed from carboxylesterase 1A1 and 1A2 genes is a potent predictor of CPT-11 cytotoxicity in vitro. Pharmacogenet Genomics 2007; 17: 1-10.
44. Kamendulis LM, Brzenzinski MR, Pindel EV, Bosron WF, Dean RA. Metabolism of cocaine and heroin is catalyzed by the same human liver carboxylesterases. J Pharmacol Exp Ther 1996; 279: 713-717.
45. Geshi E, Kimura T, Yoshimura M, Suzuki H, Koba S, Sakai T et al. A single nucleotide polymorphism in the carboxylesterase gene is associated with the responsiveness to imidapril medication and the promoter activity. Hypertens Res 2005; 28: 719-725.
46. Zhu HJ, Patrick KS, Yuan HJ, Wang JS, Donovan JL, DeVane CL et al. Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis. Am J Hum Genet 2008; 82: 1241-1248.
47. Kubo T, Kim SR, Sai K, Saito Y, Nakajima T, Matsumoto K et al. Functional characterization of three naturally occurring single nucleo-tide polymorphisms in the CES2 gene encoding carboxylesterase 2 (HCE-2). Drug Metab Dispos 2005; 33: 1482-1487.
48. Hussain Z, Kar P, Husain SA. Antituberculosis drug-induced hepatitis: risk factors, prevention and management. Indian J Exp Biol 2003; 41: 1226-1232.
49. Roy PD, Majumder M, Roy B. Pharmacogenomics of anti-TB drugs-related hepatotoxicity. Pharmacogenomics 2008; 9: 311-321.
50. Sharma SK, Balamurugan A, Saha PK, Pandey RM, Mehra NK. Evaluation of clinical and immunogenetic risk factors for the development of hepatotoxicity during antituberculosis treatment. Am J Respir Crit Care Med 2002; 166: 916-919.
51. Yamada S, Tang M, Richardson K, Halaschek-Wiener J, Chan M, Cook VJ et al. Genetic variation of NAT2 and CTP2E1 and isoniazid hepatotoxi-city in a diverse population. Pharmacogenomics 2009; 10: 1433-1445.
52. Holmes RS, Chan J, Cox LA, Murphy WJ, VandeBerg JL. Opossum carboxylesterases: sequences, phylogeny and evidence for CES gene duplication events predating the marsupial-eutherian common ancestor. BMC Evol Biol 2008; 8: 54.
53. Gene Card CES http://www.genecards.org/cgi-bin/carddisp.pl?gene = CES.
54. Balakirev ES, Ayala FJ. Pseudogenes: are they 'Junk' or functional DNA? Annu Rev Genet 2003; 37: 123-151.
55. Yoshimura M, Kimura T, Ishii M, Ishii K, Matsuura T, Geshi E et al. Functional polymorphisms in carboxylesterase 1A2 (CES1A2) gene involves specific protein 1 (Sp1) binding sites. Biochem Biophys Res Commun 2008; 369: 939-942.
56. Kozak M. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 1986; 44: 283-292.
57. Buckland PR. The importance and identification of regulatory polymorphisms and their mechanism of action. Biochim Biophys Acta 2006; 1762: 17-28.