Lack of associations of CHRNA5-A3-B4 genetic variants with smoking cessation treatment outcomes in Caucasian smokers despite associations with baseline smoking

PLoS ONE

Volumn 10, Issue 5, 2015, Pages

  Tyndale, Rachel F ^a,b   Zhu, Andy Z X ^b   George, Tony P ^a,b   Paul, Cinciripini ^c   Hawk, LarryW ^d,e   Schnoll, RobertA ^f   Swan, Gary E ^g   Benowitz, Neal L ^h,i   Heitjan, Daniel F ^j   Lerman, Caryn ^f   Leone, Frank ^f,j   Glick, Henry ^f,j   Pinto, Angela ^f,j   Sanborn, Paul ^f,j   Gariti, Peter ^f,j   Landis, Richard ^f,j   Novalen, Maria ^a   Zhao, Bin ^a   Hoffmann, Ewa ^a   Zhou, Qian ^a   Aziziyeh, Adel ^a   Mahoney, Martin ^e   Karam Hage, Maher ^c   Conti, David ^k   Bergen, Andrew ^l   more..

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^d UNIVERSITY AT BUFFALO   (United States)

^e UNIVERSITY AT BUFFALO   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g STANFORD UNIVERSITY   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

^k UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^l SRI INTERNATIONAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMFEBUTAMONE; NICOTINE; NICOTINE PATCH; PLACEBO; VARENICLINE; CHRNA5 PROTEIN, HUMAN; CHRNB4 PROTEIN, HUMAN; NERVE PROTEIN; NICOTINE GUM; NICOTINIC RECEPTOR; NICOTINIC RECEPTOR SUBUNIT ALPHA3;

ADULT; ARTICLE; CAUCASIAN; CHRNA5 A3 B4 GENE; CLINICAL TRIAL (TOPIC); FEMALE; GENE; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MALE; METABOLISM; NICOTINE METABOLISM; NICOTINE REPLACEMENT THERAPY; PROCESS OPTIMIZATION; SMOKING; SMOKING CESSATION; TOBACCO CONSUMPTION; TREATMENT DURATION; TREATMENT OUTCOME; GENETIC ASSOCIATION STUDY; GENETICS; MIDDLE AGED; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM; THERAPY;

NICOTIANA TABACUM;

ADULT; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, NICOTINIC; SMOKING; SMOKING CESSATION; TOBACCO USE CESSATION PRODUCTS; TREATMENT OUTCOME; VARENICLINE;

EID: 84930622127     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0128109     Document Type: Article

References (48)

1. World Health Organization. Who report on the global tobacco epidemic, 2011: Warning about the dangers of tobacco. 2011.
2. Jha P, Ramasundarahettige C, Landsman V, Rostron B, Thun M, Anderson RN, et al. 21st-century hazards of smoking and benefits of cessation in the United States. N Engl J Med. 2013; 368(4):341-50. Epub 2013/01/25. doi: 10.1056/NEJMsa1211128 PMID: 23343063.
3. Benowitz NL. Nicotine addiction. N Engl J Med. 2010; 362(24):2295-303. Epub 2010/06/18. doi: 10.1056/NEJMra0809890 PMID: 20554984; PubMed Central PMCID: PMC2928221.
4. Thorgeirsson TE, Geller F, Sulem P, Rafnar T, Wiste A, Magnusson KP, et al. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature. 2008; 452(7187):638-42. Epub 2008/04/04. doi: 10.1038/nature06846 PMID: 18385739.
5. Consortium TTaG. Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nature genetics. 2010; 42(5):441-7. Epub 2010/04/27. doi: 10.1038/ng.571 PMID: 20418890; PubMed Central PMCID: PMC2914600.
6. Thorgeirsson TE, Gudbjartsson DF, Surakka I, Vink JM, Amin N, Geller F, et al. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet. 2010; 42(5):448-53. Epub 2010/04/27. doi: ng.573 [pii] doi: 10.1038/ng.573 PMID: 20418888; PubMed Central PMCID: PMC3080600.
7. Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P, Middleton L, et al. Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet. 2010; 42(5):436-40. Epub 2010/04/27. doi: 10.1038/ng.572 PMID: 20418889.
8. Pillai SG, Ge D, Zhu G, Kong X, Shianna KV, Need AC, et al. A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet. 2009; 5(3):e1000421. Epub 2009/03/21. doi: 10.1371/journal.pgen.1000421 PMID: 19300482; PubMed Central PMCID: PMC2650282.
9. Siedlinski M, Cho MH, Bakke P, Gulsvik A, Lomas DA, Anderson W, et al. Genome-wide association study of smoking behaviours in patients with COPD. Thorax. 2011; 66(10):894-902. Epub 2011/06/21. doi: 10.1136/thoraxjnl-2011-200154 PMID: 21685187; PubMed Central PMCID: PMC3302576.
10. Saccone SF, Hinrichs AL, Saccone NL, Chase GA, Konvicka K, Madden PA, et al. Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum Mol Genet. 2007; 16(1):36-49. Epub 2006/12/01. doi: 10.1093/hmg/ddl438 PMID: 17135278; PubMed Central PMCID: PMC2270437.
11. Saccone NL, Schwantes-An TH, Wang JC, Grucza RA, Breslau N, Hatsukami D, et al. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. Genes, brain, and behavior. 2010; 9(7):741-50. Epub 2010/06/30. doi: 10.1111/j.1601-183X.2010.00608.x PMID: 20584212; PubMed Central PMCID: PMC2970751.
12. Saccone NL, Culverhouse RC, Schwantes-An TH, Cannon DS, Chen X, Cichon S, et al. Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet. 2010; 6(8). Epub 2010/08/12. doi: 10.1371/journal.pgen.1001053 PMID: 20700436; PubMed Central PMCID: PMC2916847.
13. Gonzales D, Rennard SI, Nides M, Oncken C, Azoulay S, Billing CB, et al. Varenicline, an alpha4beta2 nicotinic acetylcholine receptor partial agonist, vs sustained-release bupropion and placebo for smoking cessation: a randomized controlled trial. JAMA. 2006; 296(1):47-55. Epub 2006/07/06. doi: 296/1/47 [pii]. doi: 10.1001/jama.296.1.47 PMID: 16820546.
14. Xian H, Scherrer JF, Madden PA, Lyons MJ, Tsuang M, True WR, et al. The heritability of failed smoking cessation and nicotine withdrawal in twins who smoked and attempted to quit. Nicotine Tob Res. 2003; 5(2):245-54. Epub 2003/05/15. PMID: 12745498.
15. Cahill K, Stevens S, Perera R, Lancaster T. Pharmacological interventions for smoking cessation: an overview and network meta-analysis. Cochrane Database Syst Rev. 2013; 5:CD009329. Epub 2013/06/04. doi: 10.1002/14651858.CD009329.pub2 PMID: 23728690.
16. Stead LF, Perera R, Bullen C, Mant D, Hartmann-Boyce J, Cahill K, et al. Nicotine replacement therapy for smoking cessation. Cochrane Database Syst Rev. 2012; 11:CD000146. doi: 10.1002/14651858.CD000146.pub4 PMID: 23152200.
17. Lessov CN, Martin NG, Statham DJ, Todorov AA, Slutske WS, Bucholz KK, et al. Defining nicotine dependence for genetic research: evidence from Australian twins. Psychological medicine. 2004; 34(5):865-79. PMID: 15500307.
18. Lerman C, Schnoll RA, Hawk LW Jr., Cinciripini P, George TP, Wileyto EP, et al. Use of the nicotine metabolite ratio as a genetically informed biomarker of response to nicotine patch or varenicline for smoking cessation: a randomised, double-blind placebo-controlled trial. The lancet Respiratory medicine. 2015; 3(2):131-8. doi: 10.1016/S2213-2600(14)70294-2 PMID: 25588294.
19. Baker TB, Weiss RB, Bolt D, von Niederhausern A, Fiore MC, Dunn DM, et al. Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes. Nicotine Tob Res. 2009; 11(7):785-96. doi: 10.1093/ntr/ntp064 PMID: 19436041; PubMed Central PMCID: PMC2699926.
20. Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, et al. A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. Hum Mol Genet. 2009; 18(15):2922-7. doi: 10.1093/hmg/ddp216 PMID: 19429911; PubMed Central PMCID: PMC2706684.
21. Munafo MR, Johnstone EC, Walther D, Uhl GR, Murphy MF, Aveyard P. CHRNA3 rs1051730 genotype and short-term smoking cessation. Nicotine Tob Res. 2011; 13(10):982-8. Epub 2011/06/22. doi: 10.1093/ntr/ntr106 PMID: 21690317; PubMed Central PMCID: PMC3179672.
22. Sarginson JE, Killen JD, Lazzeroni LC, Fortmann SP, Ryan HS, Schatzberg AF, et al. Markers in the 15q24 nicotinic receptor subunit gene cluster (CHRNA5-A3-B4) predict severity of nicotine addiction and response to smoking cessation therapy. Am J Med Genet B Neuropsychiatr Genet. 2011; 156B(3):275-84. Epub 2011/01/27. doi: 10.1002/ajmg.b.31155 PMID: 21268243.
23. Zhu AZ, Zhou Q, Cox LS, David SP, Ahluwalia JS, Benowitz NL, et al. Association of CHRNA5-A3-B4 SNP rs2036527 With Smoking Cessation Therapy Response in African-American Smokers. Clin Pharmacol Ther. 2014; 96(2):256-65. Epub 2014/04/16. doi: 10.1038/clpt.2014.88 PMID: 24733007; PubMed Central PMCID: PMC4111775.
24. Breitling LP, Twardella D, Hoffmann MM, Witt SH, Treutlein J, Brenner H. Prospective association of dopamine-related polymorphisms with smoking cessation in general care. Pharmacogenomics. 2010; 11(4):527-36. Epub 2010/03/31. doi: 10.2217/pgs.10.1 PMID: 20350135.
25. Conti DV, Lee W, Li D, Liu J, Van Den Berg D, Thomas PD, et al. Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation. Hum Mol Genet. 2008; 17(18):2834-48. doi: 10.1093/hmg/ddn181 PMID: 18593715; PubMed Central PMCID: PMC2525499.
26. Swan GE, Javitz HS, Jack LM, Wessel J, Michel M, Hinds DA, et al. Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes. Pharmacogenomics J. 2012; 12(4):349-58. doi: 10.1038/tpj.2011.19 PMID: 21606948; PubMed Central PMCID: PMC3405554.
27. Uhl GR, Drgon T, Johnson C, Ramoni MF, Behm FM, Rose JE. Genome-wide association for smoking cessation success in a trial of precessation nicotine replacement. Mol Med. 2010; 16(11-12):513-26. Epub 2010/09/03. doi: 10.2119/molmed.2010.00052 PMID: 20811658; PubMed Central PMCID: PMC2972392.
28. Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE. Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs. BMC genetics. 2007; 8:10. Epub 2007/04/05. doi: 10.1186/1471-2156-8-10 PMID: 17407593; PubMed Central PMCID: PMC1853105.
29. Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, et al. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. Arch Gen Psychiatry. 2008; 65(6):683-93. Epub 2008/06/04. doi: 10.1001/archpsyc.65.6.683 PMID: 18519826; PubMed Central PMCID: PMC2430596.
30. Chen LS, Baker TB, Piper ME, Breslau N, Cannon DS, Doheny KF, et al. Interplay of genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and cessation treatments in smoking cessation success. Am J Psychiatry. 2012; 169(7):735-42. Epub 2012/06/01. doi: 10.1176/appi.ajp.2012.11101545 PMID: 22648373; PubMed Central PMCID: PMC3433845.
31. Bergen AW, Javitz HS, Krasnow R, Nishita D, Michel M, Conti DV, et al. Nicotinic acetylcholine receptor variation and response to smoking cessation therapies. Pharmacogenet Genomics. 2013; 23(2):94-103. Epub 2012/12/20. doi: 10.1097/FPC.0b013e32835cdabd PMID: 23249876; PubMed Central PMCID: PMC3563676.
32. SRNT Subcommittee on Biochemical Verification. Biochemical verification of tobacco use and cessation. Nicotine Tob Res. 2002; 4(2):149-59. Epub 2002/05/25. doi: 10.1080/14622200210123581 PMID: 12028847.
33. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81(3):559-75. doi: 10.1086/519795 PMID: 17701901; PubMed Central PMCID: PMC1950838.
34. 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(6):386-9. Epub 2006/07/29. PMID: 16872570.
35. St Helen G, Novalen M, Heitjan DF, Dempsey D, Jacob P 3rd, Aziziyeh A, et al. Reproducibility of the nicotine metabolite ratio in cigarette smokers. Cancer Epidemiol Biomarkers Prev. 2012; 21(7):1105-14. Epub 2012/05/04. doi: 10.1158/1055-9965.EPI-12-0236 PMID: 22552800; PubMed Central PMCID: PMC3392523.
36. Zhu AZ, Zhou Q, Cox LS, Ahluwalia JS, Benowitz NL, Tyndale RF. Variation in trans-3′-hydroxycotinine glucuronidation does not alter the nicotine metabolite ratio or nicotine intake. PLoS One. 2013; 8(8):e70938. Epub 2013/08/13. doi: 10.1371/journal.pone.0070938 PMID: 23936477; PubMed Central PMCID: PMC3732272.
37. Chen LS, Bloom AJ, Baker TB, Smith SS, Piper ME, Martinez M, et al. Pharmacotherapy Effects on Smoking Cessation Vary with Nicotine Metabolism Gene (CYP2A6). Addiction. 2013. Epub 2013/09/17. doi: 10.1111/add.12353 PMID: 24033696.
38. Jacob P 3rd, Yu L, Duan M, Ramos L, Yturralde O, Benowitz NL. Determination of the nicotine metabolites cotinine and trans-3′-hydroxycotinine in biologic fluids of smokers and non-smokers using liquid chromatography-tandem mass spectrometry: biomarkers for tobacco smoke exposure and for phenotyping cytochrome P450 2A6 activity. J Chromatogr B Analyt Technol Biomed Life Sci. 2011; 879(3-4):267-76. doi: 10.1016/j.jchromb.2010.12.012 PMID: 21208832; PubMed Central PMCID: PMC3050598.
39. Tanner J, Novalen M, Jatlow P, Huestis M, Murphy S, Kaprio J, et al. Nicotine Metabolite Ratio (3-hydroxycotinine/cotinine) in Plasma and Urine by Different Analytical Methods and Laboratories: Implications for Clinical Implementation. Cancer Epidemiol Biomarkers Prev. 2015;In press.
40. Saccone NL, Wang JC, Breslau N, Johnson EO, Hatsukami D, Saccone SF, et al. The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans. Cancer research. 2009; 69(17):6848-56. Epub 2009/08/27. doi: 10.1158/0008-5472.CAN-09-0786 PMID: 19706762; PubMed Central PMCID: PMC2874321.
41. Amos CI, Wu X, Broderick P, Gorlov IP, Gu J, Eisen T, et al. Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat Genet. 2008; 40(5):616-22. Epub 2008/04/04. doi: 10.1038/ng.109 PMID: 18385676; PubMed Central PMCID: PMC2713680.
42. Munafo MR, Timofeeva MN, Morris RW, Prieto-Merino D, Sattar N, Brennan P, et al. Association between genetic variants on chromosome 15q25 locus and objective measures of tobacco exposure. J Natl Cancer Inst. 2012; 104(10):740-8. Epub 2012/04/27. doi: 10.1093/jnci/djs191 PMID: 22534784; PubMed Central PMCID: PMC3352832.
43. Keskitalo K, Broms U, Heliovaara M, Ripatti S, Surakka I, Perola M, et al. Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15. Human molecular genetics. 2009; 18(20):4007-12. Epub 2009/07/25. doi: 10.1093/hmg/ddp322 PMID: 19628476; PubMed Central PMCID: PMC2748889.
44. Zhu AZ, Renner CC, Hatsukami DK, Benowitz NL, Tyndale RF. CHRNA5-A3-B4 genetic variants alter nicotine intake and interact with tobacco use to influence body weight in Alaska Native tobacco users. Addiction. 2013; 108(10):1818-28. Epub 2013/05/23. doi: 10.1111/add.12250 PMID: 23692359; PubMed Central PMCID: PMC3775934.
45. 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(17):1342-6. Epub 2011/07/13. doi: 10.1093/jnci/djr237 PMID: 21747048; PubMed Central PMCID: PMC3168937.
46. Brennan P, Hainaut P, Boffetta P. Genetics of lung-cancer susceptibility. Lancet Oncol. 2011; 12(4):399-408. Epub 2010/10/19. doi: 10.1016/S1470-2045(10)70126-1 PMID: 20951091.
47. Spitz MR, Amos CI, Bierut LJ, Caporaso NE. Cotinine conundrum-a step forward but questions remain. J Natl Cancer Inst. 2012; 104(10):720-2. Epub 2012/04/27. doi: 10.1093/jnci/djs211 PMID: 22534783; PubMed Central PMCID: PMC3352835.
48. Zhu AZ, Renner CC, Hatsukami DK, Swan GE, Lerman C, Benowitz NL, et al. The ability of plasma cotinine to predict nicotine and carcinogen exposure is altered by differences in CYP2A6: the influence of genetics, race, and sex. Cancer Epidemiol Biomarkers Prev. 2013; 22(4):708-18. Epub 2013/02/02. doi: 10.1158/1055-9965.EPI-12-1234-T PMID: 23371292; PubMed Central PMCID: PMC3617060.