Method for Evaluating Multiple Mediators: Mediating Effects of Smoking and COPD on the Association between the CHRNA5-A3 Variant and Lung Cancer Risk

PLoS ONE

Volumn 7, Issue 10, 2012, Pages

  Wang, Jian ^a   Spitz, Margaret R ^b   Amos, Christopher I ^a   Wu, Xifeng ^a   Wetter, David W ^a   Cinciripini, Paul M ^a   Shete, Sanjay ^a  

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

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINIC RECEPTOR; NICOTINIC RECEPTOR ALPHA5; UNCLASSIFIED DRUG;

ACCURACY; ARTICLE; BOOTSTRAPPING; CANCER RISK; CASE CONTROL STUDY; CHRNA5 A3 GENE; CHRONIC OBSTRUCTIVE LUNG DISEASE; DISEASE ASSOCIATION; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC VARIABILITY; LUNG CANCER; MATHEMATICAL ANALYSIS; REGRESSION ANALYSIS; SMOKING;

CASE-CONTROL STUDIES; COMPUTER SIMULATION; GENETIC ASSOCIATION STUDIES; HUMANS; LUNG NEOPLASMS; MODELS, THEORETICAL; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RECEPTORS, NICOTINIC; RISK FACTORS; SMOKING;

EID: 84867531930     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0047705     Document Type: Article

References (61)

1. MacKinnon DP (2008) Introduction to statistical mediation analysis. New York: Erlbaum. 488 p.
2. Shrout PE, Bolger N, (2002) Mediation in experimental and nonexperimental studies: new procedures and recommendations. Psychol Methods 7: 422-445.
3. Blackburn EH, (2011) Walking the walk from genes through telomere maintenance to cancer risk. Cancer Prev Res (Phila) 4: 473-475.
4. Gu J, Chen M, Shete S, Amos CI, Kamat A, et al. (2011) A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer. Cancer Prev Res (Phila) 4: 514-521.
5. Ishii T, Wakabayashi R, Kurosaki H, Gemma A, Kida K, (2011) Association of serotonin transporter gene variation with smoking, chronic obstructive pulmonary disease, and its depressive symptoms. J Hum Genet 56: 41-46.
6. Wang J, Spitz MR, Amos CI, Wilkinson AV, Wu X, et al. (2010) Mediating effects of smoking and chronic obstructive pulmonary disease on the relation between the CHRNA5-A3 genetic locus and lung cancer risk. Cancer 116: 3458-3462.
7. Vanderweele TJ, Asomaning K, Tchetgen Tchetgen EJ, Han Y, Spitz MR, et al. (2012) Genetic variants on 15q25.1, smoking, and lung cancer: an assessment of mediation and interaction. Am J Epidemiol 175: 1013-1020.
8. Li H, Gail MH, Berndt S, Chatterjee N, (2010) Using cases to strengthen inference on the association between single nucleotide polymorphisms and a secondary phenotype in genome-wide association studies. Genet Epidemiol 34: 427-433.
9. Lin DY, Zeng D, (2009) Proper analysis of secondary phenotype data in case-control association studies. Genet Epidemiol 33: 256-265.
10. Richardson DB, Rzehak P, Klenk J, Weiland SK, (2007) Analyses of case-control data for additional outcomes. Epidemiology 18: 441-445.
11. Wang J, Shete S, (2011) Power and type I error results for a bias-correction approach recently shown to provide accurate odds ratios of genetic variants for the secondary phenotypes associated with primary diseases. Genet Epidemiol 35: 739-743.
12. Wang J, Shete S, (2011) Estimation of odds ratios of genetic variants for the secondary phenotypes associated with primary diseases. Genet Epidemiol 35: 190-200.
13. Chen LS, Baker TB, Piper ME, Breslau N, Cannon DS, et al. (2012) Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success. Am J Psychiatry.
14. Chen LS, Saccone NL, Culverhouse RC, Bracci PM, Chen CH, et al. (2012) Smoking and genetic risk variation across populations of European, Asian, and African American ancestry-a meta-analysis of chromosome 15q25. Genet Epidemiol 36: 340-351.
15. Kaur-Knudsen D, Bojesen SE, Tybjaerg-Hansen A, Nordestgaard BG, (2011) Nicotinic acetylcholine receptor polymorphism, smoking behavior, and tobacco-related cancer and lung and cardiovascular diseases: a cohort study. J Clin Oncol 29: 2875-2882.
16. Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P, et al. (2010) Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet 42: 436-440.
17. Pillai SG, Ge D, Zhu G, Kong X, Shianna KV, et al. (2009) A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. Plos Genetics 5: e1000421.
18. Furberg H, Kim Y, Dackor J, Boerwinkle E, Franceschini N, et al. (2010) Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nat Genet 42: 441-447.
19. Thorgeirsson TE, Gudbjartsson DF, Surakka I, Vink JM, Amin N, et al. (2010) Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet 42: 448-453.
20. Amos CI, Wu X, Broderick P, Gorlov IP, Gu J, et al. (2008) Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat Genet 40: 616-622.
21. Hung RJ, McKay JD, Gaborieau V, Boffetta P, Hashibe M, et al. (2008) A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature 452: 633-637.
22. Thorgeirsson TE, Geller F, Sulem P, Rafnar T, Wiste A, et al. (2008) A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 452: 638-642.
23. Young RP, Hopkins RJ, Hay BA, Epton MJ, Black PN, et al. (2008) Lung cancer gene associated with COPD: triple whammy or possible confounding effect? Eur Respir J 32: 1158-1164.
24. Lips EH, Gaborieau V, McKay JD, Chabrier A, Hung RJ, et al. (2010) Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals. Int J Epidemiol 39: 563-577.
25. Spitz MR, Amos CI, Dong Q, Lin J, Wu X, (2008) 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 100: 1552-1556.
26. Wacholder S, Chatterjee N, Caporaso N, (2008) Intermediacy and gene-environment interaction: the example of CHRNA5-A3 region, smoking, nicotine dependence, and lung cancer. J Natl Cancer Inst 100: 1488-1491.
27. Munafo MR, Timofeeva MN, Morris RW, Prieto-Merino D, Sattar N, et al. (2012) Association between genetic variants on chromosome 15q25 locus and objective measures of tobacco exposure. J Natl Cancer Inst 104: 740-748.
28. Spitz MR, Amos CI, Bierut LJ, Caporaso NE, (2012) Cotinine conundrum-a step forward but questions remain. J Natl Cancer Inst 104: 720-722.
29. Keskitalo K, Broms U, Heliovaara M, Ripatti S, Surakka I, et al. (2009) Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15. Hum Mol Genet 18: 4007-4012.
30. Preacher KJ, Hayes AF, (2008) Asymptotic and resampling strategies for assessing and comparing indirect effects in multiple mediator models. Behav Res Methods 40: 879-891.
31. Hayes AF, Preacher KJ, Myers TA (2011) Mediation and the estimation of indirect effects in political communication research. In: Bucy EO, Lance Holbert R, editors. Sourcebook for Political Communication Research: Methods, Measures, and Analytical Techniques. New York: Routledge. 434-465.
32. Young RP, Hopkins RJ, Christmas T, Black PN, Metcalf P, et al. (2009) COPD prevalence is increased in lung cancer, independent of age, sex and smoking history. Eur Respir J 34: 380-386.
33. Taylor AB, MacKinnon DP, Tein JY, (2008) Tests of the three-path mediated effect. Organizational Research Methods 11: 241-269.
34. MacKinnon DP, Lockwood CM, Brown CH, Wang W, Hoffman JM, (2007) The intermediate endpoint effect in logistic and probit regression. Clin Trials 4: 499-513.
35. Wang J, Shete S (2012) Analysis of secondary phenotype involving the interative effect of the secondary phenotype and genetic variants on the primary disease. Under review.
36. Mathworks (2002) Matlab. Cambridge, MA: Mathworks.
37. Powell MJD (1970) A fortran subroutine for solving systems of nonlinear algebraic equations. In: Rabinowitz P, editor. Numerical methods for nonlinear algebraic equations. New York: Gordon and Breach. 115-161.
38. Rothman KJ, Greenland S (1998) Modern epidemiology. Philadelphia, PA: Lippincott Williams & Wilkins. 737 p.
39. Efron B, Tibshirani RJ (1993) An introduction to the bootstrap. New York: Chapman and Hall. 436 p.
40. Villeneuve PJ, Mao Y, (1994) Lifetime probability of developing lung cancer, by smoking status, Canada. Can J Public Health 85: 385-388.
41. Lamprecht B, McBurnie MA, Vollmer WM, Gudmundsson G, Welte T, et al. (2011) COPD in never smokers: results from the population-based burden of obstructive lung disease study. Chest 139: 752-763.
42. CDC (2005) Cigarette smoking among adults - United States, 2004. MMWR 54: 1121-1124.
43. Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, et al. (2009) Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 106: 9362-9367.
44. Spencer CC, Su Z, Donnelly P, Marchini J, (2009) Designing genome-wide association studies: sample size, power, imputation, and the choice of genotyping chip. Plos Genetics 5: e1000477.
45. Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, et al. (2009) Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet 41: 899-904.
46. Peto R, Darby S, Deo H, Silcocks P, Whitley E, et al. (2000) Smoking, smoking cessation, and lung cancer in the UK since 1950: combination of national statistics with two case-control studies. BMJ 321: 323-329.
47. Zhu W, Zhang H, (2009) Why Do We Test Multiple Traits in Genetic Association Studies? J Korean Stat Soc 38: 1-10.
48. Lindberg A, Bjerg A, Ronmark E, Larsson LG, Lundback B, (2006) Prevalence and underdiagnosis of COPD by disease severity and the attributable fraction of smoking Report from the Obstructive Lung Disease in Northern Sweden Studies. Respir Med 100: 264-272.
49. Mannino DM, Watt G, Hole D, Gillis C, Hart C, et al. (2006) The natural history of chronic obstructive pulmonary disease. Eur Respir J 27: 627-643.
50. Stav D, Raz M, (2007) Prevalence of chronic obstructive pulmonary disease among smokers aged 45 and up in Israel. Isr Med Assoc J 9: 800-802.
51. Zaas D, Wise R, Wiener C, (2004) Airway obstruction is common but unsuspected in patients admitted to a general medicine service. Chest 125: 106-111.
52. Young RP, Hopkins RJ, Hay BA, Gamble GD, (2011) GSTM1 null genotype in COPD and lung cancer: evidence of a modifier or confounding effect? The Application of Clinical Genetics 4: 137-144.
53. Barr RG, Herbstman J, Speizer FE, Camargo CA Jr, (2002) Validation of self-reported chronic obstructive pulmonary disease in a cohort study of nurses. Am J Epidemiol 155: 965-971.
54. Straus SE, McAlister FA, Sackett DL, Deeks JJ, (2002) Accuracy of history, wheezing, and forced expiratory time in the diagnosis of chronic obstructive pulmonary disease. J Gen Intern Med 17: 684-688.
55. Eisner MD, Trupin L, Katz PP, Yelin EH, Earnest G, et al. (2005) Development and validation of a survey-based COPD severity score. Chest 127: 1890-1897.
56. Vanderweele TJ, Vansteelandt S, (2010) Odds ratios for mediation analysis for a dichotomous outcome. Am J Epidemiol 172: 1339-1348.
57. Hayes AF (2012) An analytical primer and computational tool for observed variable moderation, mediation, and conditional process modeling. Manuscript submitted for publication.
58. Imai K, Keele L, Tingley D, (2010) A general approach to causal mediation analysis. Psychol Methods 15: 309-334.
59. Hayes AF, (2009) Beyond Baron and Kenny: statistical mediation analysis in the new millennium. Commun Monogr 76: 408-420.
60. Alwin DF, Hauser RM, (1975) Decomposition of Effects in Path Analysis. Am Sociol Rev 40: 37-47.
61. Fairchild AJ, Mackinnon DP, Taborga MP, Taylor AB, (2009) R2 effect-size measures for mediation analysis. Behav Res Methods 41: 486-498.