Beyond cigarettes per day: A genome-wide association study of the biomarker carbon monoxide

Annals of the American Thoracic Society

Volumn 11, Issue 7, 2014, Pages 1003-1010

  Bloom, A Joseph ^a   Hartz, Sarah M ^a   Baker, Timothy B ^b   Chen, Li Shiun ^a   Piper, Megan E ^b   Fox, Louis ^a   Martinez, Maribel ^a   Hatsukami, Dorothy ^c   Johnson, Eric O ^d   Laurie, Cathy C ^e   Saccone, Nancy L ^a   Goate, Alison ^a   Bierut, Laura J ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d RTI INTERNATIONAL   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Chronic obstructive pulmonary disease; Lung cancer; Nicotine; Nicotinic receptor; Smoking

Indexed keywords

BIOLOGICAL MARKER; CARBON MONOXIDE; CIGARETTE SMOKE; CHRNA5 PROTEIN, HUMAN; CYP2A6 PROTEIN, HUMAN; CYTOCHROME P450 2A6; NERVE PROTEIN; NICOTINIC RECEPTOR;

ADULT; AFRICAN AMERICAN; ARTICLE; CANCER SUSCEPTIBILITY; CHRNA3 GENE; CHRNA5 GENE; CHRNB4 GENE; CHRONIC OBSTRUCTIVE LUNG DISEASE; DNA DETERMINATION; EUROPEAN AMERICAN; EXPOSURE; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; SMOKING; SMOKING CESSATION; TOBACCO DEPENDENCE; CAUCASIAN; CLINICAL TRIAL; COMPARATIVE STUDY; CONFIDENCE INTERVAL; CONTROLLED STUDY; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; LUNG TUMOR; MIDDLE AGED; MULTICENTER STUDY; PROCEDURES; PSYCHOLOGY; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RANDOMIZED CONTROLLED TRIAL;

ADULT; AFRICAN AMERICANS; BIOMARKERS; CARBON MONOXIDE; CONFIDENCE INTERVALS; CYTOCHROME P-450 CYP2A6; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LUNG NEOPLASMS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RECEPTORS, NICOTINIC; SMOKING; SMOKING CESSATION; TOBACCO USE DISORDER;

EID: 84911870094     PISSN: 23256621     EISSN: None     Source Type: Journal    
DOI: 10.1513/AnnalsATS.201401-010OC     Document Type: Article

References (51)

1. Anand P, Kunnumakkara AB, Sundaram C, Harikumar KB, Tharakan ST, Lai OS, Sung B, Aggarwal BB. Cancer is a preventable disease that requires major lifestyle changes. Pharm Res 2008;25:2097-2116.
2. American Lung Association. Chronic Obstructive Pulmonary Disease (COPD) Fact Sheet. 2013 [accessed 2013 Jun 7]. Available from: http://www.lung.org/lung-disease/copd/resources/facts-figures/COPD-Fact-Sheet.html
3. Lips EH, Gaborieau V, McKay JD, Chabrier A, Hung RJ, Boffetta P, Hashibe M, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, et al. Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals. Int J Epidemiol 2010;39:563-577.
4. Wilk JB, Shrine NR, Loehr LR, Zhao JH, Manichaikul A, Lopez LM, Smith AV, Heckbert SR, Smolonska J, Tang W, et al. Genomewide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. Am J Respir Crit Care Med 2012;186:622-632.
5. VanderWeele TJ, Asomaning K, Tchetgen Tchetgen EJ, Han Y, Spitz MR, Shete S, Wu X, Gaborieau V, Wang Y, McLaughlin J, et al. Genetic variants on 15q25.1, smoking, and lung cancer: an assessment of mediation and interaction. Am J Epidemiol 2012;175:1013-1020.
6. Siedlinski M, Tingley D, Lipman PJ, Cho MH, Litonjua AA, Sparrow D, Bakke P, Gulsvik A, Lomas DA, Anderson W, et al.; COPDGene and ECLIPSE Investigators. Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility. Hum Genet 2013;132:431-441.
7. Munafò MR, Timofeeva MN, Morris RW, Prieto-Merino D, Sattar N, Brennan P, Johnstone EC, Relton C, Johnson PC, Walther D, et al.; EPIC Study Group. Association between genetic variants on chromosome 15q25 locus and objective measures of tobacco exposure. J Natl Cancer Inst 2012;104:740-748.
8. Thorgeirsson TE, Geller F, Sulem P, Rafnar T, Wiste A, Magnusson KP, Manolescu A, Thorleifsson G, Stefansson H, Ingason A, et al. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 2008;452:638-642.
9. Spitz MR, Amos CI, Bierut LJ, Caporaso NE. Cotinine conundrum - a step forward but questions remain. J Natl Cancer Inst 2012;104:720-722.
10. Benowitz NL, Hall SM, Herning RI, Jacob P III, Jones RT, Osman AL. Smokers of low-yield cigarettes do not consume less nicotine. N Engl J Med 1983;309:139-142.
11. Benowitz NL, Jacob P III, Yu L, Talcott R, Hall S, Jones RT. Reduced tar, nicotine, and carbon monoxide exposure while smoking ultralowbut not low-yield cigarettes. JAMA 1986;256:241-246.
12. Herning RI, Jones RT, Bachman J, Mines AH. Puff volume increases when low-nicotine cigarettes are smoked. Br Med J (Clin Res Ed) 1981;283:187-189.
13. Etter JF, Vu Duc T, Perneger TV. Saliva cotinine levels in smokers and nonsmokers. Am J Epidemiol 2000;151:251-258.
14. Krall EA, Valadian I, Dwyer JT, Gardner J. Accuracy of recalled smoking data. Am J Public Health 1989;79:200-202.
15. Vesey CJ, Saloojee Y, Cole PV, Russell MA. Blood carboxyhaemoglobin, plasma thiocyanate, and cigarette consumption: implications for epidemiological studies in smokers. Br Med J (Clin Res Ed) 1982;284:1516-1518.
16. Benowitz NL, Jacob P III, Kozlowski LT, Yu L. Influence of smoking fewer cigarettes on exposure to tar, nicotine, and carbon monoxide. N Engl J Med 1986;315:1310-1313.
17. Robinson JC, Forbes WF. The role of carbon monoxide in cigarette smoking. I. Carbon monoxide yield from cigarettes. Arch Environ Health 1975;30:425-434.
18. Zacny JP, Stitzer ML, Brown FJ, Yingling JE, Griffiths RR. Human cigarette smoking: effects of puff and inhalation parameters on smoke exposure. J Pharmacol Exp Ther 1987;240:554-564.
19. Marrone GF, Shakleya DM, Scheidweiler KB, Singleton EG, Huestis MA, Heishman SJ. Relative performance of common biochemical indicators in detecting cigarette smoking. Addiction 2011;106:1325-1334.
20. Joseph AM, Hecht SS, Murphy SE, Carmella SG, Le CT, Zhang Y, Han S, Hatsukami DK. Relationships between cigarette consumption and biomarkers of tobacco toxin exposure. Cancer Epidemiol Biomarkers Prev 2005;14:2963-2968.
21. Heatherton TF, Kozlowski LT, Frecker RC, Fagerström KO. The Fagerström Test for Nicotine Dependence: a revision of the Fagerström Tolerance Questionnaire. Br J Addict 1991;86:1119-1127.
22. McCarthy DE, Piasecki TM, Lawrence DL, Jorenby DE, Shiffman S, Fiore MC, Baker TB. A randomized controlled clinical trial of bupropion SR and individual smoking cessation counseling. Nicotine Tob Res 2008;10:717-729.
23. Piper ME, Federman EB, McCarthy DE, Bolt DM, Smith SS, Fiore MC, Baker TB. Efficacy of bupropion alone and in combination with nicotine gum. Nicotine Tob Res 2007;9:947-954.
24. Piper ME, Smith SS, Schlam TR, Fiore MC, Jorenby DE, Fraser D, Baker TB. A randomized placebo-controlled clinical trial of 5 smoking cessation pharmacotherapies. Arch Gen Psychiatry 2009;66:1253-1262. [Published erratum appears in Arch Gen Psychiatry 2010;67:77.]
25. Laurie CC, Doheny KF, Mirel DB, Pugh EW, Bierut LJ, Bhangale T, Boehm F, Caporaso NE, Cornelis MC, Edenberg HJ, et al.; GENEVA Investigators. Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol 2010;34:591-602.
26. Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet 2006;2:e190.
27. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575.
28. Thorgeirsson TE, Gudbjartsson DF, Surakka I, Vink JM, Amin N, Geller F, Sulem P, Rafnar T, Esko T, Walter S, et al.; ENGAGE Consortium. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet 2010;42:448-453.
29. Tobacco and Genetics Consortium. Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nat Genet 2010;42:441-447.
30. Bloom AJ, Harari O, Martinez M, Madden PA, Martin NG, Montgomery GW, Rice JP, Murphy SE, Bierut LJ, Goate A. Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6. Hum Mol Genet 2012;21:3050-3062.
31. Bloom J, Hinrichs AL, Wang JC, von Weymarn LB, Kharasch ED, Bierut LJ, Goate A, Murphy SE. The contribution of common CYP2A6 alleles to variation in nicotine metabolism among European-Americans. Pharmacogenet Genomics 2011;21:403-416.
32. Bierut LJ, Stitzel JA, Wang JC, Hinrichs AL, Grucza RA, Xuei X, Saccone NL, Saccone SF, Bertelsen S, Fox L, et al. Variants in nicotinic receptors and risk for nicotine dependence. Am J Psychiatry 2008;165:1163-1171.
33. Amos CI, Wu X, Broderick P, Gorlov IP, Gu J, Eisen T, Dong Q, Zhang Q, Gu X, Vijayakrishnan J, et al. Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat Genet 2008;40:616-622.
34. Hung RJ, McKay JD, Gaborieau V, Boffetta P, Hashibe M, Zaridze D, Mukeria A, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, et al. A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature 2008;452:633-637.
35. Saccone NL, Culverhouse RC, Schwantes-An TH, Cannon DS, Chen X, Cichon S, Giegling I, Han S, Han Y, Keskitalo-Vuokko K, 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:e1001053.
36. Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PI. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 2008;24:2938-2939.
37. Rice JP, Hartz SM, Agrawal A, Almasy L, Bennett S, Breslau N, Bucholz KK, Doheny KF, Edenberg HJ, Goate AM, et al.; GENEVA Consortium. CHRNB3 is more strongly associated with Fagerström test for cigarette dependence-based nicotine dependence than cigarettes per day: phenotype definition changes genome-wide association studies results. Addiction 2012;107:2019-2028.
38. Keskitalo K, Broms U, Heliövaara M, Ripatti S, Surakka I, Perola M, Pitkäniemi J, Peltonen L, Aromaa A, Kaprio J. Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15. Hum Mol Genet 2009;18:4007-4012.
39. Le Marchand L, Derby KS, Murphy SE, Hecht SS, Hatsukami D, Carmella SG, Tiirikainen M, Wang H. Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine. Cancer Res 2008;68:9137-9140.
40. Astrup P. Some physiological and pathological effects of moderate carbon monoxide exposure. BMJ 1972;4:447-452.
41. Fowler CD, Lu Q, Johnson PM, Marks MJ, Kenny PJ. Habenular a5 nicotinic receptor subunit signalling controls nicotine intake. Nature 2011;471:597-601.
42. Ehringer MA, McQueen MB, Hoft NR, Saccone NL, Stitzel JA, Wang JC, Bierut LJ. Association of CHRN genes with "dizziness" to tobacco. Am J Med Genet B Neuropsychiatr Genet 2010;153B:600-609.
43. Timofeeva MN, Hung RJ, Rafnar T, Christiani DC, Field JK, Bickeböller H, Risch A, McKay JD, Wang Y, Dai J, et al.; Transdisciplinary Research in Cancer of the Lung (TRICL) Research Team. Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. Hum Mol Genet 2012;21:4980-4995.
44. Siedlinski M, Cho MH, Bakke P, Gulsvik A, Lomas DA, Anderson W, Kong X, Rennard SI, Beaty TH, Hokanson JE, et al.; COPDGene Investigators; ECLIPSE Investigators. Genome-wide association study of smoking behaviours in patients with COPD. Thorax 2011;66:894-902.
45. Centers for Disease Control and Prevention (CDC). Current cigarette smoking among adults - United States, 2011. MMWR Morb Mortal Wkly Rep 2012;61:889-894.
46. Joseph AM, Hecht SS, Murphy SE, Lando H, Carmella SG, Gross M, Bliss R, Le CT, Hatsukami DK. Smoking reduction fails to improve clinical and biological markers of cardiac disease: a randomized controlled trial. Nicotine Tob Res 2008;10:471-481.
47. Benowitz NL, Dains KM, Dempsey D, Wilson M, Jacob P. Racial differences in the relationship between number of cigarettes smoked and nicotine and carcinogen exposure. Nicotine Tob Res 2011;13:772-783.
48. Mustonen TK, Spencer SM, Hoskinson RA, Sachs DP, Garvey AJ. The influence of gender, race, and menthol content on tobacco exposure measures. Nicotine Tob Res 2005;7:581-590.
49. Haiman CA, Stram DO, Wilkens LR, Pike MC, Kolonel LN, Henderson BE, Le Marchand L. Ethnic and racial differences in the smokingrelated risk of lung cancer. N Engl J Med 2006;354:333-342.
50. Fiore MC, Novotny TE, Pierce JP, Giovino GA, Hatziandreu EJ, Newcomb PA, Surawicz TS, Davis RM. Methods used to quit smoking in the United States. Do cessation programs help? JAMA 1990;263:2760-2765.
51. Perkins KA, Karelitz JL, Giedgowd GE, Conklin CA. The reliability of puff topography and subjective responses during ad lib smoking of a single cigarette. Nicotine Tob Res 2012;14:490-494.