Unique CYP3A4 genetic variant in Brazilian tuberculosis patients with/without HIV

Molecular Medicine Reports

Volumn 5, Issue 1, 2012, Pages 153-161

  Jeovanio Silva, André L ^a   Monteiro, Thaís P ^a   El Jaick, Kênia B ^a   Do Brasil, Pedro E A A ^a   Rolla, Valéria C ^a   De Castro, Liane ^a  

^a Funda??o Oswaldo Cruz   (Brazil)

Author keywords

Brazil; CYP3A4 promoter region; CYP3A4 upstream region sequence analysis; CYP3A4*1B; Genetic polymorphism; Tuberculosis

Indexed keywords

CYTOCHROME P450 3A4; TUBERCULOSTATIC AGENT;

5' UNTRANSLATED REGION; ARTICLE; BRAZIL; DNA SEQUENCE; EXTRAPULMONARY TUBERCULOSIS; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS; HUMAN IMMUNODEFICIENCY VIRUS INFECTED PATIENT; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; MAJOR CLINICAL STUDY; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING CESSATION; TUBERCULOSIS;

ALLELES; BRAZIL; CYTOCHROME P-450 CYP3A; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HIV INFECTIONS; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SMOKING; TUBERCULOSIS;

HUMAN IMMUNODEFICIENCY VIRUS; NICOTIANA TABACUM;

EID: 84855239369     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2011.602     Document Type: Article

References (51)

1. Waxman DJ, Attisano C, Guengerich FP and Lapenson DP: Human liver microsomal steroid metabolism: identification of the major microsomal steroid hormone 6 beta-hydroxylase cytochrome P-450 enzyme. Arch Biochem Biophys 263: 424-436, 1988.
2. Ma X, Cheung C, Krausz KW, et al.: A double transgenic mouse model expressing human pregnane X receptor and cytochrome P450 3A4. Drug Metab Dispos 36: 2506-2512, 2008.
3. Goodwin B, Hodgson E and Liddle C: The orphan human pregnane X receptor mediates the transcriptional activation of CYP3A4 by rifampicin through a distal enhancer module. Mol Pharmacol 56: 1329-1339, 1999.
4. Mugundu GM, Hariparsad N and Desai PB: Impact of ritonavir, atazanavir and their combination on the CYP3A4 induction potential of efavirenz in primary human hepatocytes. Drug Metab Lett 4: 45-50, 2010.
5. Von Hentig N and Lotsch J: Cytochrome P450 3A inhibition by atazanavir and ritonavir, but not demography or drug formulation, influences saquinavir population pharmacokinetics in human immunodeficiency virus type 1-infected adults. Antimicrob Agents Chemother 53: 3524-3527, 2009.
6. Flockhart D: Cytochrome P450 Drug Interaction Table. Indiana University School of Medicine, 2007.
7. Rendic S and di Carlo FJ: Human cytochrome P450 enzymes: a status report summarizing their reactions, substrates, inducers, and inhibitors. Drug Metab Rev 29: 413-580, 1997. (Pubitemid 27293618)
8. Guengerich FP: Cytochrome P-450 3A4: regulation and role in drug metabolism. Ann Rev Pharmacol Toxicol 39: 1-17, 1999.
9. Kliewer SA: Pregnane X receptor: predicting and preventing drug interactions. Thrombosis Res 117: 133-136; discussion 145-151, 2005.
10. Niwa T, Yabusaki Y, Honma K, et al.: Contribution of human hepatic cytochrome P450 isoforms to regioselective hydroxylation of steroid hormones. Xenobiotica 28: 539-547, 1998. (Pubitemid 28307940)
11. Shou M, Korzekwa KR, Brooks EN, Krausz KW, Gonzalez FJ and Gelboin HV: Role of human hepatic cytochrome P450 1A2 and 3A4 in the metabolic activation of estrone. Carcinogenesis 18: 207-214, 1997. (Pubitemid 28134635)
12. Thompson PD, Jurutka PW, Whitfield GK, et al.: Liganded VDR induces CYP3A4 in small intestinal and colon cancer cells via DR3 and ER6 vitamin D responsive elements. Biochem Biophys Res Commun 299: 730-738, 2002. (Pubitemid 36034548)
13. Jurutka PW, Whitfield GK, Hsieh JC, Thompson PD, Haussler CA and Haussler MR: Molecular nature of the vitamin D receptor and its role in regulation of gene expression. Rev Endocr Metabol Disord 2: 203-216, 2001. (Pubitemid 33635523)
14. Merza M, Farnia P, Anoosheh S, et al.: The NRAMPI, VDR and TNF-alpha gene polymorphisms in Iranian tuberculosis patients: the study on host susceptibility. Braz J Infect Dis 13: 252-256, 2009.
15. Bellamy R, Beyers N, McAdam KP, et al.: Genetic susceptibility to tuberculosis in Africans: a genome-wide scan. Proc Nat Acad Sci USA 97: 8005-8009, 2000. (Pubitemid 30460763)
16. Rebbeck TR, Jaffe JM, Walker AH, Wein AJ and Malkowicz SB: Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 90: 1225-1229, 1998.
17. Huang Z, Fasco MJ, Figge HL, Keyomarsi K and Kaminsky LS: Expression of cytochromes P450 in human breast tissue and tumors. Drug Metab Dispos 24: 899-905, 1996. (Pubitemid 26274749)
18. Kolars JC, Lown KS, Schmiedlin-Ren P, et al.: CYP3A gene expression in human gut epithelium. Pharmacogenetics 4: 247-259, 1994. (Pubitemid 24337433)
19. Lown KS, Bailey DG, Fontana RJ, et al.: Grapefruit juice increases felodipine oral availability in humans by decreasing intestinal CYP3A protein expression. J Clin Invest 99: 2545-2553, 1997.
20. Shimada T, Yamazaki H, Mimura M, Inui Y and Guengerich FP: Interindividual variations in human liver cytochrome P-450 enzymes involved in the oxidation of drugs, carcinogens and toxic chemicals: studies with liver microsomes of 30 Japanese and 30 Caucasians. J Pharmacol Exp Ther 270: 414-423, 1994. (Pubitemid 24229655)
21. Zheng W, Jin F, Dunning LA, et al.: Epidemiological study of urinary 6beta-hydroxycortisol to cortisol ratios and breast cancer risk. Cancer Epidemiol Biomarkers Prev 10: 237-242, 2001. (Pubitemid 34288535)
22. Hashimoto H, Toide K, Kitamura R, et al.: Gene structure of CYP3A4, an adult-specific form of cytochrome P450 in human livers, and its transcriptional control. Eur J Biochem 218: 585-595, 1993. (Pubitemid 24003776)
23. Itoh S, Yanagimoto T, Tagawa S, et al.: Genomic organization of human fetal specific P-450IIIA7 (cytochrome P-450HFLa)-related gene(s) and interaction of transcriptional regulatory factor with its DNA element in the 5′ flanking region. Biochim Biophys Acta 1130: 133-138, 1992.
24. Kinirons MT, Lang CC, He HB, et al.: Triazolam pharmacokinetics and pharmacodynamics in Caucasians and Southern Asians: ethnicity and CYP3A activity. Br J Clin Pharmacol 41: 69-72, 1996. (Pubitemid 26009912)
25. Westlind A, Lofberg L, Tindberg N, Andersson TB and Ingelman-Sundberg M: Interindividual differences in hepatic expression of CYP3A4: relationship to genetic polymorphism in the 5′-upstream regulatory region. Biochem Biophys Res Commun 259: 201-205, 1999. (Pubitemid 29264018)
26. Sata F, Sapone A, Elizondo G, et al.: CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: evidence for an allelic variant with altered catalytic activity. Clin Pharmacol Ther 67: 48-56, 2000. (Pubitemid 30078387)
27. Plummer SJ, Conti DV, Paris PL, Curran AP, Casey G and Witte JS: CYP3A4 and CYP3A5 genotypes, haplotypes, and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 12: 928-932, 2003. (Pubitemid 37157963)
28. Kadlubar FF, Berkowitz GS, Delongchamp RR, et al.: The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer. Cancer Epidemiol Biomarkers Prev 12: 327-331, 2003. (Pubitemid 36427993)
29. Spurdle AB, Goodwin B, Hodgson E, et al.: The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer. Pharmacogenetics 12: 355-366, 2002. (Pubitemid 34816415)
30. Ministério da Saúde: Manual de Recomendações para o Controle da Tuberculose no Brasil. Secretaria de Vigilância em Saúde Programa Nacional de Controle da Tuberculose, 2010.
31. Ensembl: ensembl genomics.org. 2009.
32. ncbi: National Center for Biotechnology Information.
33. HGVS: Human Genome Variantion Society.
34. Keshava C, McCanlies EC and Weston A: CYP3A4 polymorphisms - potential risk factors for breast and prostate cancer: a HuGE review. Am J Epidemiol 160: 825-841, 2004. (Pubitemid 39434767)
35. aids.gov.br: Ministério da Saúde. Departamento de DST, Aids e Hepatites Virais.
36. Hirota T, Ieiri I, Takane H, et al.: Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status. Hum Mol Genet 13: 2959-2969, 2004. (Pubitemid 39585228)
37. Slama K, Chiang CY, Enarson DA, et al.: Tobacco and tuberculosis: a qualitative systematic review and meta-analysis. Int J Tuberc Lung Dis 11: 1049-1061, 2007. (Pubitemid 47605393)
38. Chiang CY, Slama K and Enarson DA: Associations between tobacco and tuberculosis. Int J Tuberc Lung Dis 11: 258-262, 2007. (Pubitemid 46447431)
39. Iglesias R, Jha P, Pinto M, Costa e Silva LV and Godinho J: Tobacco control in Brazil. In: HNP - Health, Nutrition and Population. The World Bank, p120, 2007.
40. Zeigler-Johnson CM, Walker AH, Mancke B, et al.: Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4. Hum Hered 54: 13-21, 2002. (Pubitemid 35404245)
41. Walker AH, Jaffe JM, Gunasegaram S, et al.: Characterization of an allelic variant in the nifedipine-specific element of CYP3A4: ethnic distribution and implications for prostate cancer risk. Mutations in brief no. 191. Online. Human Mutat 12: 289, 1998.
42. Loukola A, Chadha M, Penn SG, et al.: Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2. Eur J Hum Genet 12: 321-332, 2004. (Pubitemid 38519346)
43. Fiegenbaum M, da Silveira FR, van der Sand CR, et al.: The role of common variants of ABCB1, CYP3A4, and CYP3A5 genes in lipid-lowering efficacy and safety of simvastatin treatment. Clin Pharmacol Ther 78: 551-558, 2005. (Pubitemid 41698910)
44. Almeida S, Zandona MR, Franken N, Callegari-Jacques SM, Osorio-Wender MC and Hutz MH: Estrogen-metabolizing gene polymorphisms and lipid levels in women with different hormonal status. Pharmacogenom J 5: 346-351, 2005.
45. Alves-Silva J, da Silva Santos M, Guimaraes PE, et al.: The ancestry of Brazilian mtDNA lineages. Am J Hum Genet 67: 444-461, 2000. (Pubitemid 30616746)
46. Schirmer M, Toliat MR, Haberl M, et al.: Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations. Pharmacogenet Genom 16: 59-71, 2006. (Pubitemid 41803878)
47. Felix CA, Walker AH, Lange BJ, et al.: Association of CYP3A4 genotype with treatment-related leukemia. Proc Natl Acad Sci USA 95: 13176-13181, 1998. (Pubitemid 28509544)
48. Ando Y, Tateishi T, Sekido Y, et al.: Re: Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Nat Cancer Inst 91: 1587-1590, 1999. (Pubitemid 29457968)
49. Liu PT, Stenger S, Tang DH and Modlin RL: Cutting edge: vitamin D-mediated human antimicrobial activity against Mycobacterium tuberculosis is dependent on the induction of cathelicidin. J Immunol 179: 2060-2063, 2007.
50. Ho-Pham LT, Nguyen ND, Nguyen TT, et al.: Association between vitamin D insufficiency and tuberculosis in a Vietnamese population. BMC Infect Dis 10: 306, 2010.
51. Wilkinson RJ, Llewelyn M, Toossi Z, et al.: Influence of vitamin D deficiency and vitamin D receptor polymorphisms on tuberculosis among Gujarati Asians in west London: a case-control study. Lancet 355: 618-621, 2000. (Pubitemid 30099469)