CYP2A6 and CYP2B6 genetic variation and its association with nicotine metabolism in South Western Alaska Native people

Pharmacogenetics and Genomics

Volumn 22, Issue 6, 2012, Pages 429-440

  J Binnington, Matthew ^a   Zhu, Andy Z X ^a   Renner, Caroline C ^b   Lanier, Anne P ^b   Hatsukami, Dorothy K ^c   Benowitz, Neal L ^d   Tyndale, Rachel F ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b ALASKA NATIVE TRIBAL HEALTH CONSORTIUM   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Alaska Native people; CYP2A6; CYP2B6; Genetic variation; Nicotine; Smoking; Tobacco

Indexed keywords

3' HYDROXYCOTININE; COTININE; CYTOCHROME P450 2A6; CYTOCHROME P450 2B6; NICOTINE;

ARTICLE; CONTROLLED STUDY; DRUG BLOOD LEVEL; DRUG TRANSFORMATION; DRUG URINE LEVEL; ETHNIC DIFFERENCE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; IN VIVO STUDY; MALE; METABOLISM; METABOLITE; PRIORITY JOURNAL; SMOKING; UNITED STATES; WILD TYPE;

ADULT; AGED; ALASKA; ARYL HYDROCARBON HYDROXYLASES; COTININE; EPISTASIS, GENETIC; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENETICS, POPULATION; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; NICOTINE; OXIDOREDUCTASES, N-DEMETHYLATING; POPULATION GROUPS; SMOKING;

NICOTIANA TABACUM;

EID: 84861141628     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e3283527c1c     Document Type: Article

References (69)

1. WHO. World Health Organization Report on the Global Tobacco Epidemic, 2008. 2008.
2. CDCP. Surgeon General's Report - The Health Consequences of Smoking. Atlanta, Georgia: CDC/Office on Smoking and Health, Department of Health and Human Services: Centers for Disease Control and Prevention; 2004.
3. Hagan K, Provost D. Alaska Native Health Status Report. Alaska Native Epidemiology Center. Anchorage AK: Alaska Native Tribal Health Consortium 2009.
4. Renner CC, Enoch C, Patten CA, Ebbert JO, Hurt RD, Moyer TP, et al. Iqmik: a form of smokeless tobacco used among Alaska natives. Am J Health Behav 2005; 29:588-594. (Pubitemid 41617842)
5. Hurt RD, Renner CC, Patten CA, Ebbert JO, Offord KP, Schroeder DR, et al. Iqmik - a form of smokeless tobacco used by pregnant Alaska natives: nicotine exposure in their neonates. J Matern Fetal Neonatal Med 2005; 17:281-289. (Pubitemid 40992330)
6. Smith JJ, Ferucci ED, Dillard DA, Lanier AP. Tobacco use among Alaska Native people in the EARTH study. Nicotine Tob Res 2010; 12: 839-844.
7. Boles M, Rohde K, He H, Maher JE, Stark MJ, Fenaughty A, et al. Effectiveness of a tobacco quitline in an indigenous population: a comparison between Alaska Native people and other first-time quitline callers who set a quit date. Int J Circumpolar Health 2009; 68:170-181.
8. Ho MK, Mwenifumbo JC, Al Koudsi N, Okuyemi KS, Ahluwalia JS, Benowitz NL, et al. Association of nicotine metabolite ratio and CYP2A6 genotype with smoking cessation treatment in African-American light smokers. Clin Pharmacol Ther 2009; 85:635-643.
9. Day GE, Lanier AP. Alaska native mortality, 1979-1998. Public Health Rep 2003; 118:518-530. (Pubitemid 37428870)
10. Lanier AP, Kelly JJ, Maxwell J, McEvoy T, Homan C. Cancer in Alaska Native people, 1969-2003. Alaska Med 2006; 48:30-59.
11. Lanier AP, Day GE, Kelly JJ, Provost E. Disparities in cancer mortality among Alaska Native people, 1994-2003. Alaska Med 2008; 49: 120-125.
12. Benowitz NL. Nicotine addiction. N Engl J Med 2010; 362:2295-2303.
13. Messina ES, Tyndale RF, Sellers EM. A major role for CYP2A6 in nicotine C-oxidation by human liver microsomes. J Pharmacol Exp Ther 1997; 282:1608-1614. (Pubitemid 27408347)
14. Benowitz NL, Swan GE, Jacob P III, Lessov-Schlaggar CN, Tyndale RF. CYP2A6 genotype and the metabolism and disposition kinetics of nicotine. Clin Pharmacol Ther 2006; 80:457-467. (Pubitemid 44767882)
15. Nakajima M, Yamamoto T, Nunoya K, Yokoi T, Nagashima K, Inoue K, et al. Characterization of CYP2A6 involved in 30-hydroxylation of cotinine in human liver microsomes. J Pharmacol Exp Ther 1996; 277:1010-1015.
16. Dempsey D, Tutka P, Jacob P III, Allen F, Schoedel K, Tyndale RF, et al. Nicotine metabolite ratio as an index of cytochrome P450 2A6 metabolic activity. Clin Pharmacol Ther 2004; 76:64-72. (Pubitemid 38844735)
17. Benowitz NL, Perez-Stable EJ, Herrera B, Jacob P III. Slower metabolism and reduced intake of nicotine from cigarette smoking in Chinese- Americans. J Natl Cancer Inst 2002; 94:108-115. (Pubitemid 34121290)
18. Mwenifumbo JC, Tyndale RF. Genetic variability in CYP2A6 and the pharmacokinetics of nicotine. Pharmacogenomics 2007; 8:1385-1402. (Pubitemid 350162852)
19. Nakajima M, Fukami T, Yamanaka H, Higashi E, Sakai H, Yoshida R, et al. Comprehensive evaluation of variability in nicotine metabolism and CYP2A6 polymorphic alleles in four ethnic populations. Clin Pharmacol Ther 2006; 80:282-297. (Pubitemid 44313906)
20. Ray R, Schnoll RA, Lerman C. Nicotine dependence: biology, behavior, and treatment. Annu Rev Med 2009; 60:247-260.
21. Rao Y, Hoffmann E, Zia M, Bodin L, Zeman M, Sellers EM, et al. Duplications and defects in the CYP2A6 gene: identification, genotyping, and in vivo effects on smoking. Mol Pharmacol 2000; 58:747-755.
22. Malaiyandi V, Lerman C, Benowitz NL, Jepson C, Patterson F, Tyndale RF. Impact of CYP2A6 genotype on pretreatment smoking behaviour and nicotine levels from and usage of nicotine replacement therapy. Mol Psychiatry 2006; 11:400-409.
23. Liu T, David SP, Tyndale RF,Wang H, Zhou Q, Ding P, et al. Associations of CYP2A6 genotype with smoking behaviors in southern China. Addiction 2011; 106:985-994.
24. Schoedel KA, Hoffmann EB, Rao Y, Sellers EM, Tyndale RF. Ethnic variation in CYP2A6 and association of genetically slow nicotine metabolism and smoking in adult Caucasians. Pharmacogenetics 2004; 14:615-626. (Pubitemid 39281816)
25. Swan GE, Lessov-Schlaggar CN, Bergen AW, He Y, Tyndale RF, Benowitz NL. Genetic and environmental influences on the ratio of 30-hydroxycotinine to cotinine in plasma and urine. Pharmacogenet Genomics 2009; 19:388-398.
26. Yamanaka H, Nakajima M, Nishimura K, Yoshida R, Fukami T, Katoh M, et al. Metabolic profile of nicotine in subjects whose CYP2A6 gene is deleted. Eur J Pharm Sci 2004; 22:419-425. (Pubitemid 38953900)
27. Zanger UM, Klein K, Saussele T, Blievernicht J, Hofmann MH, Schwab M. Polymorphic CYP2B6: molecular mechanisms and emerging clinical significance. Pharmacogenomics 2007; 8:743-759. (Pubitemid 47288975)
28. Ring HZ, Valdes AM, Nishita DM, Prasad S, Jacob P 3rd, Tyndale RF, et al. Gene-gene interactions between CYP2B6 and CYP2A6 in nicotine metabolism. Pharmacogenet Genomics 2007; 17:1007-1015. (Pubitemid 351339485)
29. Johnstone E, Benowitz N, Cargill A, Jacob R, Hinks L, Day I, et al. Determinants of the rate of nicotine metabolism and effects on smoking behavior. Clin Pharmacol Ther 2006; 80:319-330. (Pubitemid 44479751)
30. Lee AM, Jepson C, Shields PG, Benowitz N, Lerman C, Tyndale RF. CYP2B6 genotype does not alter nicotine metabolism, plasma levels, or abstinence with nicotine replacement therapy. Cancer Epidemiol Biomarkers Prev 2007; 16:1312-1314. (Pubitemid 46984979)
31. Al Koudsi N, Tyndale RF. Hepatic CYP2B6 is altered by genetic, physiologic, and environmental factors but plays little role in nicotine metabolism. Xenobiotica 2010; 40:381-392.
32. Hoffman SM, Nelson DR, Keeney DS. Organization, structure and evolution of the CYP2 gene cluster on human chromosome 19. Pharmacogenetics 2001; 11:687-698. (Pubitemid 33078238)
33. Haberl M, Anwald B, Klein K, Weil R, Fuss C, Gepdiremen A, et al. Three haplotypes associated with CYP2A6 phenotypes in Caucasians. Pharmacogenet Genomics 2005; 15:609-624. (Pubitemid 41113334)
34. Al Koudsi N, Ahluwalia JS, Lin SK, Sellers EM, Tyndale RF. A novel CYP2A6 allele (CYP2A6*35) resulting in an amino-acid substitution (Asn438Tyr) is associated with lower CYP2A6 activity in vivo. Pharmacogenomics J 2009; 9:274-282.
35. Fukami T, Nakajima M, Yoshida R, Tsuchiya Y, Fujiki Y, Katoh M, et al. A novel polymorphism of human CYP2A6 gene CYP2A6*17 has an amino acid substitution (V365M) that decreases enzymatic activity in vitro and in vivo. Clin Pharmacol Ther 2004; 76:519-527. (Pubitemid 39601542)
36. Mwenifumbo JC, Myers MG, Wall TL, Lin SK, Sellers EM, Tyndale RF. Ethnic variation in CYP2A6*7, CYP2A6*8 and CYP2A6*10 as assessed with a novel haplotyping method. Pharmacogenet Genomics 2005; 15: 189-192. (Pubitemid 40569906)
37. Oscarson M, McLellan RA, Asp V, Ledesma M, Bernal Ruiz ML, Sinues B, et al. Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity. Hum Mutat 2002; 20:275-283.
38. Xia Y, McGuffey JE, Wang L, Bernert JT. Analysis of urinary nicotine metabolite profiles by LC atmospheric pressure ionization tandem mass spectrometry. In 49th ASMS Conference on Mass Spectrometry and Allied Topics. Chicago, IL 2001.
39. Lea RA, Dickson S, Benowitz NL. Within-subject variation of the salivary 3HC/COT ratio in regular daily smokers: prospects for estimating CYP2A6 enzyme activity in large-scale surveys of nicotine metabolic rate. J Anal Toxicol 2006; 30:386-389. (Pubitemid 44274073)
40. Derby KS, Cuthrell K, Caberto C, Carmella SG, Franke AA, Hecht SS, et al. Nicotine metabolism in three ethnic/racial groups with different risks of lung cancer. Cancer Epidemiol Biomarkers Prev 2008; 17:3526-3535.
41. Mwenifumbo JC, Lessov-Schlaggar CN, Zhou Q, Krasnow RE, Swan GE, Benowitz NL, et al. Identification of novel CYP2A6*1B variants: the CYP2A6*1B allele is associated with faster in vivo nicotine metabolism. Clin Pharmacol Ther 2008; 83:115-121.
42. Levi M, Dempsey DA, Benowitz NL, Sheiner LB. Prediction methods for nicotine clearance using cotinine and 3-hydroxy-cotinine spot saliva samples II. Model application. J Pharmacokinet Pharmacodyn 2007; 34:23-34. (Pubitemid 46122546)
43. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-265. (Pubitemid 40202029)
44. Mwenifumbo JC, Zhou Q, Benowitz NL, Sellers EM, Tyndale RF. New CYP2A6 gene deletion and conversion variants in a population of Black African descent. Pharmacogenomics 2010; 11:189-198.
45. Yoshida R, Nakajima M, Watanabe Y, Kwon JT, Yokoi T. Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism. Br J Clin Pharmacol 2002; 54:511-517. (Pubitemid 35356877)
46. Fukami T, Nakajima M, Yamanaka H, Fukushima Y, McLeod HL, Yokoi T. A novel duplication type of CYP2A6 gene in African-American population. Drug Metab Dispos 2007; 35:515-520. (Pubitemid 46513277)
47. Lerman C, Jepson C,Wileyto EP, Patterson F, Schnoll R, Mroziewicz M, et al. Genetic variation in nicotine metabolism predicts the efficacy of extendedduration transdermal nicotine therapy. Clin Pharmacol Ther 2010; 87: 553-557.
48. Wall JD, Pritchard JK. Haplotype blocks and linkage disequilibrium in the human genome. Nat Rev Genet 2003; 4:587-597. (Pubitemid 36917501)
49. Lerman C, Tyndale R, Patterson F, Wileyto EP, Shields PG, Pinto A, et al. Nicotine metabolite ratio predicts efficacy of transdermal nicotine for smoking cessation. Clin Pharmacol Ther 2006; 79:600-608. (Pubitemid 43817942)
50. Goebel T, Waters MR, O'Rourke DH. The late Pleistocene dispersal of modern humans in the Americas. Science 2008; 319:1497-1502. (Pubitemid 351398171)
51. Schurr TG. The peopling of the New World: perspectives from molecular anthropology. Annu Rev Anthropol 2004;551-583. (Pubitemid 39547431)
52. Kitchen A, Miyamoto MM, Mulligan CJ. A three-stage colonization model for the peopling of the Americas. PLoS One 2008; 3:e1596.
53. Fagundes NJ, Kanitz R, Eckert R, Valls AC, Bogo MR, Salzano FM, et al. Mitochondrial population genomics supports a single pre-Clovis origin with a coastal route for the peopling of the Americas. Am J Hum Genet 2008; 82:583-592.
54. Zlojutro M, Rubicz R, Crawford MH. Mitochondrial DNA and Y-chromosome variation in five eastern Aleut communities: evidence for genetic substructure in the Aleut population. Ann Hum Biol 2009; 36: 511-526.
55. Anderson DG, Gillam JC. Paleoindian colonization of the Americas: implications from an examination of physiography, demography, and artifact distribution. American Antiquity 2000; 65:43-66.
56. Templeton AR. The reality and importance of founder speciation in evolution. Bioessays 2008; 30:470-479. (Pubitemid 351588928)
57. Crawford MH. Genetic structure of circumpolar populations: a synthesis. Am J Hum Biol 2007; 19:203-217. (Pubitemid 46455665)
58. Miller FP, Vandome AF, McBrewster J. Genetic drift: Genetic drift. Population bottleneck, founder effect, allopatric speciation, antigenic drift, small population size, Hardy-Weinberg principle, neutral theory of molecular evolution. Saarbrucken, Germany: Alphascript Publishing; 2009.
59. Bamshad M, Wooding SP. Signatures of natural selection in the human genome. Nat Rev Genet 2003; 4:99-111. (Pubitemid 36150682)
60. Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, Schaffner SF, et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 2002; 419:832-837. (Pubitemid 35238568)
61. Benowitz NL, Jacob P III. Metabolism of nicotine to cotinine studied by a dual stable isotope method. Clin Pharmacol Ther 1994; 56:483-493. (Pubitemid 24370355)
62. Benowitz NL, Jacob P III. Trans-30-hydroxycotinine: disposition kinetics, effects and plasma levels during cigarette smoking. Br J Clin Pharmacol 2001; 51:53-59. (Pubitemid 32118820)
63. Mooney ME, Li ZZ, Murphy SE, Pentel PR, Le C, Hatsukami DK. Stability of the nicotine metabolite ratio in ad libitum and reducing smokers. Cancer Epidemiol Biomarkers Prev 2008; 17:1396-1400.
64. Benowitz NL, Pomerleau OF, Pomerleau CS, Jacob P III. Nicotine metabolite ratio as a predictor of cigarette consumption. Nicotine Tob Res 2003; 5:621-624. (Pubitemid 37304836)
65. Benowitz NL, Lessov-Schlaggar CN, Swan GE, Jacob P III. Female sex and oral contraceptive use accelerate nicotine metabolism. Clin Pharmacol Ther 2006; 79:480-488.
66. Nobmann ED, Ponce R, Mattil C, Devereux R, Dyke B, Ebbesson SO, et al. Dietary intakes vary with age among Eskimo adults of Northwest Alaska in the GOCADAN study, 2000-2003. J Nutr 2005; 135: 856-862. (Pubitemid 40464116)
67. Knudson KJ, Frink L, Hoffman BW, Price TD. Chemical characterization of Arctic soils: activity area analysis in contemporary Yup'ik fish camps using ICP-AES. J Archaeological Sci 2004; 31:443-456.
68. Wassenaar CA, Dong Q,Wei Q, Amos CI, Spitz MR, Tyndale RF. Relationship between CYP2A6 and CHRNA5-CHRNA3-CHRNB4 variation and smoking behaviors and lung cancer risk. J Natl Cancer Inst 2011; 103:1342-1346.
69. Rodriguez-Antona C, Gomez A, Karlgren M, Sim SC, Ingelman-Sundberg M. Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatment. Hum Genet 2010; 127:1-17.