Genetic epidemiology of cigarette smoke-induced lung disease

Proceedings of the American Thoracic Society

Volumn 9, Issue 2, 2012, Pages 22-26

  Schwartz, Ann G ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

COPD; Genetics; Lung cancer; Smoking

Indexed keywords

CIGARETTE SMOKE;

AFRICAN AMERICAN; ASTHMA; CHRONIC BRONCHITIS; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONFERENCE PAPER; EMPHYSEMA; FAMILIAL CANCER; FAMILIAL DISEASE; FAMILY HISTORY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; LUNG CANCER; LUNG CARCINOGENESIS; LUNG FUNCTION; META ANALYSIS (TOPIC); PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; TOBACCO DEPENDENCE;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; LUNG NEOPLASMS; MOLECULAR EPIDEMIOLOGY; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; SMOKING;

EID: 84862604353     PISSN: 15463222     EISSN: 19435665     Source Type: Journal    
DOI: 10.1513/pats.201106-037MS     Document Type: Conference Paper

References (82)

1. Giovino GA. The tobacco epidemic in the United States. Am J Prev Med 2007;33:S318-S326. (Pubitemid 350087624)
2. Mattson ME, Pollack ES, Cullen JW. What are the odds that smoking will kill you? Am J Public Health 1987;77:425-431. (Pubitemid 17044055)
3. Sethi JM, Rochester CL. Smoking and chronic obstructive pulmonary disease. Clin Chest Med 2000;21:67-86, viii. (Pubitemid 30183773)
4. American Cancer Society. Cancer Facts & Figures. Atlanta; 2010 [updated 2010; accessed 2011 May 31]. Available from: http://www. cancer.org/Research/CancerFactsFigures/CancerFactsFigures/index.
5. Mathers CD, Loncar D. Projections of global mortality and burden of disease from 2002 to 2030. PLoS Med 2006;3:e442.
6. Centers for Disease Control and Prevention (CDC). Cigarette smoking among adults - United States, 2002. MMWR Morb Mortal Wkly Rep 2004;53:428-431.
7. Mannino DM, Aguayo SM, Petty TL, Redd SC. Low lung function and incident lung cancer in the United States: data From the First National Health and Nutrition Examination Survey follow-up. Arch Intern Med 2003;163:1475-1480. (Pubitemid 36758921)
8. Purdue MP, Gold L, Jarvholm B, Alavanja MC, Ward MH, Vermeulen R. Impaired lung function and lung cancer incidence in a cohort of Swedish construction workers. Thorax 2007;62:51-56. (Pubitemid 46101766)
9. Schabath MB, Delclos GL, Martynowicz MM, Greisinger AJ, Lu C, Wu X, Spitz MR. Opposing effects of emphysema, hay fever, and select genetic variants on lung cancer risk. Am J Epidemiol 2005;161:412-422. (Pubitemid 40315612)
10. Littman AJ, Thornquist MD, White E, Jackson LA, Goodman GE, Vaughan TL. Prior lung disease and risk of lung cancer in a large prospective study. Cancer Causes Control 2004;15:819-827. (Pubitemid 39335578)
11. Wilson DO, Weissfeld JL, Balkan A, Schragin JG, Fuhrman CR, Fisher SN, Wilson J, Leader JK, Siegfried JM, Shapiro SD, et al. Association of radiographic emphysema and airflow obstruction with lung cancer. Am J Respir Crit Care Med 2008;178:738-744.
12. Brenner DR, McLaughlin JR, Hung RJ. Previous lung diseases and lung cancer risk: a systematic review and meta-analysis. PLoS ONE 2011; 6:e17479.
13. Turner MC, Chen Y, Krewski D, Calle EE, Thun MJ. Chronic obstructive pulmonary disease is associated with lung cancer mortality in a prospective study of never smokers. Am J Respir Crit Care Med 2007;176:285-290. (Pubitemid 47195879)
14. Anthonisen NR, Connett JE, Kiley JP, Altose MD, Bailey WC, Buist AS, Conway WA, Jr., Enright PL, Kanner RE, O'Hara P, et al. Effects of smoking intervention and the use of an inhaled anticholinergic bronchodilator on the rate of decline of FEV1. The Lung Health Study. JAMA 1994;272:1497-1505.
15. McGarvey LP, John M, Anderson JA, Zvarich M, Wise RA. Ascertainment of cause-specific mortality in COPD: operations of the TORCH Clinical Endpoint Committee. Thorax 2007;62:411-415. (Pubitemid 46698390)
16. Brownson RC, Alavanja MC, Caporaso N, Berger E, Chang JC. Family history of cancer and risk of lung cancer in lifetime non-smokers and long-term ex-smokers. Int J Epidemiol 1997;26:256-263. (Pubitemid 27190295)
17. Mayne ST, Buenconsejo J, Janerich DT. Familial cancer history and lung cancer risk in United States nonsmoking men and women. Cancer Epidemiol Biomarkers Prev 1999;8:1065-1069. (Pubitemid 30004903)
18. Wasswa-Kintu S, Gan WQ, Man SF, Pare PD, Sin DD. Relationship between reduced forced expiratory volume in one second and the risk of lung cancer: a systematic review and meta-analysis. Thorax 2005; 60:570-575. (Pubitemid 40966211)
19. SchwartzAG, CoteML,Wenzlaff AS, Van Dyke A, Chen W, Ruckdeschel JC, Gadgeel S, Soubani AO. Chronic obstructive lung diseases and risk of non-small cell lung cancer in women. J Thorac Oncol 2009;4:291-299.
20. Dransfield MT, Bailey WC. COPD: racial disparities in susceptibility, treatment, and outcomes. Clin Chest Med 2006;27:463-471, vii. (Pubitemid 44118532)
21. Dransfield MT, Davis JJ, Gerald LB, Bailey WC. Racial and gender differences in susceptibility to tobacco smoke among patients with chronic obstructive pulmonary disease. Respir Med 2006;100:1110-1116.
22. Chatila WM, Hoffman EA, Gaughan J, Robinswood GB, Criner GJ. Advanced emphysema in African-American and white patients: do differences exist? Chest 2006;130:108-118. (Pubitemid 44116848)
23. de Torres JP, Bastarrika G, Wisnivesky JP, Alcaide AB, Campo A, Seijo LM, Pueyo JC, Villanueva A, Lozano MD, Montes U, et al. Assessing the relationship between lung cancer risk and emphysema detected on low-dose CT of the chest. Chest 2007;132:1932-1938.
24. Maldonado F, Bartholmai BJ, Swensen SJ, Midthun DE, Decker PA, Jett JR. Are airflow obstruction and radiographic emphysema risk factors for lung cancer? A nested case-control study using quantitative emphysema analysis. Chest. 2010;138:1295-1302.
25. Tokuhata GK, Lilienfeld AM. Familial aggregation of lung cancer in humans. J Natl Cancer Inst 1963;30:289-312.
26. Matakidou A, Eisen T, Houlston RS. Systematic review of the relationship between family history and lung cancer risk. Br J Cancer 2005;93:825-833. (Pubitemid 41486445)
27. Silverman EK, Chapman HA, Drazen JM, Weiss ST, Rosner B, Campbell EJ, O'Donnell WJ, Reilly JJ, Ginns L, Mentzer S, et al. Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis. Am J Respir Crit Care Med 1998;157:1770-1778.
28. Cohen BH, Diamond EL, Graves CG, Kreiss P, Levy DA, Menkes HA, Permutt S, Quaskey S, Tockman MS. A common familial component in lung cancer and chronic obstructive pulmonary disease. Lancet 1977;2:523-526. (Pubitemid 8186302)
29. Wu AH, Yu MC, Thomas DC, Pike MC, Henderson BE. Personal and family history of lung disease as risk factors for adenocarcinoma of the lung. Cancer Res 1988;48:7279-7284. (Pubitemid 19014017)
30. Bailey-Wilson JE, Amos CI, Pinney SM, Petersen GM, de Andrade M, Wiest JS, Fain P, Schwartz AG, You M, Franklin W, et al. A major lung cancer susceptibility locus maps to chromosome 6q23-25. Am J Hum Genet 2004;75:460-474. (Pubitemid 39095821)
31. Joost O, Wilk JB, Cupples LA, Harmon M, Shearman AM, Baldwin CT, O'Connor GT, Myers RH, Gottlieb DJ. Genetic loci influencing lung function: a genome-wide scan in the Framingham Study. Am J Respir Crit Care Med 2002;165:795-799. (Pubitemid 34229649)
32. Wilk JB, DeStefano AL, Joost O, Myers RH, Cupples LA, Slater K, Atwood LD, Heard-Costa NL, Herbert A, O'Connor GT, et al. Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study. Hum Mol Genet 2003; 12:2745-2751. (Pubitemid 37407111)
33. Amos CI, Pinney SM, Li Y, Kupert E, Lee J, de Andrade MA, Yang P, Schwartz AG, Fain PR, Gazdar A, et al. A susceptibility locus on chromosome 6q greatly increases lung cancer risk among light and never smokers. Cancer Res 2010;70:2359-2367.
34. You M, Wang D, Liu P, Vikis H, James M, Lu Y, Wang Y, Wang M, Chen Q, Jia D, et al. Fine mapping of chromosome 6q23-25 region in familial lung cancer families reveals RGS17 as a likely candidate gene. Clin Cancer Res 2009;15:2666-2674.
35. DeMeo DL, Celedon JC, Lange C, Reilly JJ, Chapman HA, Sylvia JS, Speizer FE, Weiss ST, Silverman EK. Genome-wide linkage of forced mid-expiratory flow in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2004;170:1294-1301. (Pubitemid 39657193)
36. Silverman EK, Mosley JD, Palmer LJ, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, et al. Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. Hum Mol Genet 2002;11:623-632. (Pubitemid 34285133)
37. Palmer LJ, Celedon JC, Chapman HA, Speizer FE, Weiss ST, Silverman EK. Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease. Hum Mol Genet 2003;12:1199-1210. (Pubitemid 36622152)
38. Masri FA, Comhair SA, Koeck T, Xu W, Janocha A, Ghosh S, Dweik RA, Golish J, Kinter M, Stuehr DJ, et al. Abnormalities in nitric oxide and its derivatives in lung cancer. Am J Respir Crit Care Med 2005; 172:597-605. (Pubitemid 41232971)
39. Yoshida T, Tuder RM. Pathobiology of cigarette smoke-induced chronic obstructive pulmonary disease. Physiol Rev 2007;87:1047-1082. (Pubitemid 47084676)
40. Macnee W. Pathogenesis of chronic obstructive pulmonary disease. Clin Chest Med 2007;28:479-513, v.
41. Schwartz AG, Prysak GM, Bock CH, Cote ML. The molecular epidemiology of lung cancer. Carcinogenesis 2006;28:507-518. (Pubitemid 46523346)
42. Schwartz AG, Ruckdeschel JC. Familial lung cancer: genetic susceptibility and relationship to chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2006;173:16-22. (Pubitemid 43069784)
43. Engels EA, Wu X, Gu J, Dong Q, Liu J, Spitz MR. Systematic evaluation of genetic variants in the inflammation pathway and risk of lung cancer. Cancer Res 2007;67:6520-6527. (Pubitemid 47037538)
44. Molfino NA. Current thinking on genetics of chronic obstructive pulmonary disease. Curr Opin Pulm Med 2007;13:107-113. (Pubitemid 46175106)
45. Smolonska J, Wijmenga C, Postma DS, Boezen HM. Meta-analyses on suspected chronic obstructive pulmonary disease genes: a summary of 20 years' research. Am J Respir Crit Care Med 2009;180:618-631.
46. Vogel U, Christensen J, Wallin H, Friis S, Nexo BA, Raaschou-Nielsen O, Overvad K, Tjonneland A. Polymorphisms in genes involved in the inflammatory response and interaction with NSAID use or smoking in relation to lung cancer risk in a prospective study. Mutat Res 2008;639: 89-100.
47. Campa D, Zienolddiny S, Maggini V, Skaug V, Haugen A, Canzian F. Association of a common polymorphism in the cyclooxygenase 2 gene with risk of non-small cell lung cancer. Carcinogenesis 2004;25:229- 235.
48. Zienolddiny S, Ryberg D, Maggini V, Skaug V, Canzian F, Haugen A. Polymorphisms of the interleukin-1 beta gene are associated with increased risk of non-small cell lung cancer. Int J Cancer 2004;109: 353-356. (Pubitemid 38252762)
49. Shih CM, Lee YL, Chiou HL, Chen W, Chang GC, Chou MC, Lin LY. Association of TNF-alpha polymorphism with susceptibility to and severity of non-small cell lung cancer. Lung Cancer 2006;52:15-20. (Pubitemid 43340194)
50. Shih CM, Lee YL, Chiou HL, Hsu WF, Chen WE, Chou MC, Lin LY. The involvement of genetic polymorphism of IL-10 promoter in nonsmall cell lung cancer. Lung Cancer 2005;50:291-297.
51. Lind H, Zienolddiny S, Ryberg D, Skaug V, Phillips DH, Haugen A. Interleukin 1 receptor antagonist gene polymorphism and risk of lung cancer: a possible interaction with polymorphisms in the interleukin 1 beta gene. Lung Cancer 2005;50:285-290.
52. Hu Z, Shao M, Chen Y, Zhou J, Qian J, Xu L, Ma H, Wang X, Xu Y, Lu D, et al. Allele 2 of the interleukin-1 receptor antagonist gene (IL1RN*2) is associated with a decreased risk of primary lung cancer. Cancer Lett 2006;236:269-275.
53. Landvik NE, Hart K, Skaug V, Stangeland LB, Haugen A, Zienolddiny S. A specific interleukin-1B haplotype correlates with high levels of IL1B mRNA in the lung and increased risk of non-small cell lung cancer. Carcinogenesis 2009;30:1186-1192.
54. Van Dyke AL, Cote ML, Wenzlaff AS, Chen W, Abrams J, Land S, Giroux CN, Schwartz AG. Cytokine and cytokine receptor single-nucleotide polymorphisms predict risk for non-small cell lung cancer among women. Cancer Epidemiol Biomarkers Prev 2009;18:1829-1840.
55. Lee JM, Yanagawa J, Peebles KA, Sharma S, Mao JT, Dubinett SM. Inflammation in lung carcinogenesis: new targets for lung cancer chemoprevention and treatment. Crit Rev Oncol Hematol 2008;66: 208-217.
56. Matheson MC, Ellis JA, Raven J, Walters EH, Abramson MJ. Association of IL8, CXCR2 and TNF-alpha polymorphisms and airway disease. J Hum Genet 2006;51:196-203.
57. He JQ, Burkett K, Connett JE, Anthonisen NR, Pare PD, Sandford AJ. Interferon gamma polymorphisms and their interaction with smoking are associated with lung function. Hum Genet 2006;119:365-375.
58. Sadeghnejad A, Meyers DA, Bottai M, Sterling DA, Bleecker ER, Ohar JA. IL13 promoter polymorphism 1112C/T modulates the adverse effect of tobacco smoking on lung function. Am J Respir Crit Care Med 2007;176:748-752. (Pubitemid 47598475)
59. Pillai SG, Ge D, Zhu G, Kong X, Shianna KV, Need AC, Feng S, Hersh CP, Bakke P, Gulsvik A, et al. A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet 2009;5:e1000421.
60. 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. (Pubitemid 351483367)
61. 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. (Pubitemid 351483366)
62. Liu P, Vikis HG, Wang D, Lu Y, Wang Y, Schwartz AG, Pinney SM, Yang P, de Andrade M, Petersen GM, et al. Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer. J Natl Cancer Inst 2008;100:1326-1330.
63. Spitz MR, Amos CI, Dong Q, Lin J,Wu X. The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer. J Natl Cancer Inst 2008;100:1552-1556.
64. Wang Y, Broderick P, Webb E, Wu X, Vijayakrishnan J, Matakidou A, Qureshi M, Dong Q, Gu X, Chen WV, et al. Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nat Genet 2008;40:1407-1409.
65. 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. (Pubitemid 351601203)
66. Lambrechts D, Buysschaert I, Zanen P, Coolen J, Lays N, Cuppens H, Groen HJ, Dewever W, van Klaveren RJ, Verschakelen J, et al. The 15q24/25 susceptibility variant for lung cancer and chronic obstructive pulmonary disease is associated with emphysema. Am J Respir Crit Care Med 2010;181:486-493.
67. 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.
68. Thorgeirsson TE, Gudbjartsson DF, Surakka I, Vink JM, Amin N, Geller F, Sulem P, Rafnar T, Esko T, Walter S, et al. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet 2010;42:448-453.
69. Broderick P, Wang Y, Vijayakrishnan J, Matakidou A, Spitz MR, Eisen T, Amos CI, Houlston RS. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. Cancer Res 2009;69:6633-6641.
70. Yoon KA, Park JH, Han J, Park S, Lee GK, Han JY, Zo JI, Kim J, Lee JE, Takahashi A, et al. A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population. Hum Mol Genet 2010;19:4948-4954.
71. Rafnar T, Sulem P, Besenbacher S, Gudbjartsson DF, Zanon C, Gudmundsson J, Stacey SN, Kostic JP, Thorgeirsson TE, Thorleifsson G, et al. Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk. Cancer Res 2011;71:1356-1361.
72. Wilk JB, Walter RE, Laramie JM, Gottlieb DJ, O'Connor GT. Framingham Heart Study genome-wide association: results for pulmonary function measures. BMC Med Genet 2007;8:S8.
73. Repapi E, Sayers I, Wain LV, Burton PR, Johnson T, Obeidat M, Zhao JH, Ramasamy A, Zhai G, Vitart V, et al. Genome-wide association study identifies five loci associated with lung function. Nat Genet 2010; 42:36-44.
74. Hancock DB, Eijgelsheim M, Wilk JB, Gharib SA, Loehr LR, Marciante KD, Franceschini N, van Durme YM, Chen TH, Barr RG, et al.Metaanalyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat Genet 2010;42:45-52.
75. Wilk JB, Chen TH, Gottlieb DJ, Walter RE, Nagle MW, Brandler BJ, Myers RH, Borecki IB, Silverman EK, Weiss ST, et al. A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet 2009;5:e1000429.
76. Young RP, Whittington CF, Hopkins RJ, Hay BA, Epton MJ, Black PN, Gamble GD. Chromosome 4q31 locus in COPD is also associated with lung cancer. Eur Respir J 2010;36:1375-1382.
77. Kong X, Cho MH, Anderson W, Coxson HO, Muller N, Washko G, Hoffman EA, Bakke P, Gulsvik A, Lomas DA, et al. Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. Am J Respir Crit Care Med 2011;183:43-49.
78. Young RP, Hopkins RJ, Whittington CF, Hay BA, Epton MJ, Gamble GD. Individual and cumulative effects of GWAS susceptibility loci in lung cancer: associations after sub-phenotyping for COPD. PLoS ONE 2011;6:e16476.
79. Chung CC, Ciampa J, Yeager M, Jacobs KB, Berndt SI, Hayes RB, Gonzalez-Bosquet J, Kraft P, Wacholder S, Orr N, et al. Fine mapping of a region of chromosome 11q13 reveals multiple independent loci associated with risk of prostate cancer. Hum Mol Genet 2011;20:2869-2878.
80. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, et al. Finding the missing heritability of complex diseases. Nature 2009;461: 747-753.
81. Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, Lin JC, Palmisano E, Brune K, Jaffee EM, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009;324:217.
82. Wong MW, Nordfors C, Mossman D, Pecenpetelovska G, Avery-Kiejda KA, Talseth-Palmer B, Bowden NA, Scott RJ. BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. Breast Cancer Res Treat 2011;127:853-859.