Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes with health outcomes. An example of the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism and coronary heart disease

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Williams, Paul ^a   Pendyala, Lakshmana ^b   Superko, Robert ^a  

^a CELERA   (United States)

^b UNIVERSITY OF LOUISVILLE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; KINESIN; KINESIN LIKE PROTEIN 6; TYROSINE; UNCLASSIFIED DRUG; KIF6 PROTEIN, HUMAN; TRYPTOPHAN;

ADULT; AGED; ARTICLE; CARDIOVASCULAR RISK; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; SURVIVAL RATE; CANADA; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER SIMULATION; CORONARY ARTERY DISEASE; CROSS-SECTIONAL STUDY; DRUG INTERACTION; EPIDEMIOLOGY; GENETIC PREDISPOSITION; GENETICS; HEART INFARCTION; HETEROZYGOTE; METHODOLOGY; MORTALITY; PROSPECTIVE STUDY; RISK; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARD; STATISTICAL MODEL; SURVIVAL; TREATMENT OUTCOME;

ARGININE; CANADA; CASE-CONTROL STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER SIMULATION; CORONARY DISEASE; CROSS-SECTIONAL STUDIES; DRUG INTERACTIONS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; KINESIN; LOGISTIC MODELS; MYOCARDIAL INFARCTION; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; RESEARCH DESIGN; RISK ASSESSMENT; RISK FACTORS; SELECTION BIAS; SURVIVAL ANALYSIS; TREATMENT OUTCOME; TRYPTOPHAN;

EID: 79953087425     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-42     Document Type: Article

References (48)

1. Clayton D, McKeigue PM. Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet 2001, 358:1356-60. 10.1016/S0140-6736(01)06418-2, 11684236.
2. Pearson TA, Manolio TA. How to interpret a genome-wide association study. JAMA 2008, 299:1335-44. 10.1001/jama.299.11.1335, 18349094.
3. Essebag V, Genest J, Suissa S, Pilote L. The nested case-control study in cardiology. Am Heart J 2003, 146:581-90. 10.1016/S0002-8703(03)00512-X, 14564310.
4. Manolio TA, Bailey-Wilson JE, Collins FS. Genes, environment and the value of prospective cohort studies. Nat Rev Genet 2006, 7:812-20. 10.1038/nrg1919, 16983377.
5. Roger VL, Go AS, Lloyd-Jones DM, et al. Heart Disease and Stroke Statistics--2011 Update: A Report From the American Heart Association. Circulation 2010, http://circ.ahajournals.org/cgi/reprint/CIR.0b013e3182009701v1.
6. Iakoubova OA, Tong CH, Rowland CM, et al. Association of the Trp719Arg polymorphism in kinesin-like protein 6 with myocardial infarction and coronary heart disease in 2 prospective trials: the CARE and WOSCOPS trials. J Am Coll Cardiol 2008, 51:435-43. 10.1016/j.jacc.2007.05.057, 18222353.
7. Sacks FM, Pfeffer MA, Moye LA, et al. The effect of pravastatin on coronary events after myocardial infarction in patients with average cholesterol levels. Cholesterol and Recurrent Events Trial investigators. N Engl J Med 1996, 335:1001-9. 10.1056/NEJM199610033351401, 8801446.
8. Iakoubova OA, Robertson M, Tong CH, et al. KIF6 Trp719Arg polymorphism and the effect of statin therapy in elderly patients: results from the PROSPER study. Eur J Cardiovasc Prev Rehabil 2010, 17:455-61. 10.1097/HJR.0b013e328336a0dd, 20215968.
9. Hopewell JC, Parish S, Clarke R, et al. No Impact of KIF6 Genotype on Vascular Risk or Statin Benefit in the Heart Protection Study. Circulation 2009, 120:S606.
10. Iakoubova OA, Sabatine MS, Rowland CM, et al. Polymorphism in KIF6 gene and benefit from statins after acute coronary syndromes: results from the PROVE IT-TIMI 22 study. J Am Coll Cardiol 2008, 51:449-55. 10.1016/j.jacc.2007.10.017, 18222355.
11. Shiffman D, Chasman DI, Zee RY, et al. A kinesin family member 6 variant is associated with coronary heart disease in the Women's Health Study. J Am Coll Cardiol 2008, 51:444-8. 10.1016/j.jacc.2007.09.044, 18222354.
12. Shiffman D, O'Meara ES, Bare LA, et al. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. Arterioscler Thromb Vasc Biol 2008, 28:173-9. 10.1161/ATVBAHA.107.153981, 2636623, 17975119.
13. Bare LA, Morrison AC, Rowland CM, et al. Five common gene variants identify elevated genetic risk for coronary heart disease. Genet Med 2007, 9:682-9. 10.1097/GIM.0b013e318156fb62, 18073581.
14. Morrison AC, Bare LA, Chambless LE, et al. Prediction of coronary heart disease risk using a genetic risk score: The Atherosclerosis Risk in Communities Study. Am J Epidemiol 2007, 166:28-35. 10.1093/aje/kwm060, 17443022.
15. Assimes TL, Hólm H, Kathiresan S, et al. Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol 2010, 56:1552-63. 10.1016/j.jacc.2010.06.022, 20933357.
16. Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Nat Cancer Inst 1959, 22:719-48.
17. Lee W, Bindman J, Ford T, et al. Bias in psychiatric case-control studies: literature survey. Br J Psychiatry 2007, 190:204-9. 10.1192/bjp.bp.106.027250, 17329739.
18. Szklo M, Nieto FJ. Epidemiology: beyond the basics. Jones and Bartlett Publishers. Sudbury MA 2004, 136.
19. Snyder CW, Weinberg JA, McGwin G, et al. The relationship of blood product ratio to mortality: survival benefit or survival bias?. J Trauma 2009, 66:358-62. 10.1097/TA.0b013e318196c3ac, 19204508.
20. Samani NJ, Erdmann J, Hall AS, et al. Genomewide association analysis of coronary artery disease. N Engl J Med 2007, 357:443-53. 10.1056/NEJMoa072366, 17634449.
21. Meiner V, Friedlander Y, Milo H, et al. Cholesteryl ester transfer protein (CETP) genetic variation and early onset of non-fatal myocardial infarction. Ann Hum Genet 2008, 72:732-41. 10.1111/j.1469-1809.2008.00464.x, 2766633, 18637884.
22. Low AF, O'Donnell CJ, Kathiresan S, et al. Aging syndrome genes and premature coronary artery disease. BMC Med Genet 2005, 6:38. 2005, 10.1186/1471-2350-6-38, 1289285, 16262891.
23. Stewart AF, Dandona S, Chen L, et al. Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study. JACC 2009, 53:1471-2.
24. Sutton BS, Crosslin DR, Shah SH, et al. Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets. Hum Mol Genet 2008, 17:1318-28. 10.1093/hmg/ddn020, 2652668, 18204052.
25. Martinelli N, Girelli D, Malerba G, et al. FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease. Am J Clin Nutr 2008, 88:941-9.
26. Siontis KC, Patsopoulos NA, Ioannidis JP. Replication of past candidate loci for common diseases and phenotypes in 100 genome-wide association studies. Eur J Hum Genet 2010, 18:832-7. 10.1038/ejhg.2010.26, 20234392.
27. Deloughery TG, Evans A, Sadeghi A, et al. Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine metabolism and late-onset vascular disease. Circulation 1996, 94:3074-8.
28. Ma J, Stampfer MJ, Hennekens CH, et al. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation 1996, 94:2410-6.
29. Schwartz SM, Siscovick DS, Malinow MR, et al. Myocardial infarction in young women in relation to plasma total homocysteine, folate, and a common variant in the methylenetetrahydrofolate reductase gene. Circulation 1997, 96:412-7.
30. Gallagher PM, Meleady R, Shields DC, et al. Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation. Circulation 1996, 94:2154-8.
31. Kluijtmans LA, van den Heuvel LP, Boers GH, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996, 58:35-41. 1914961, 8554066.
32. Mager A, Lalezari S, Shohat T, et al. Methylenetetrahydrofolate reductase genotypes and early-onset coronary artery disease. Circulation 1999, 100:2406-10.
33. Morita H, Taguchi J, Kurihara H, et al. Genetic polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. Circulation 1997, 95:2032-6.
34. Yamada Y, Matsuo H, Segawa T, et al. Assessment of genetic risk for myocardial infarction. Thromb Haemost 2006, 96:220-7.
35. Folsom AR, Nieto FJ, McGovern PG, et al. Prospective study of coronary heart disease incidence in relation to fasting total homocysteine, related genetic polymorphisms, and B vitamins: the Atherosclerosis Risk in Communities (ARIC) Study. Circulation 1998, 98:204-210.
36. Lewis SJ, Ebrahim S, Davy Smith G. Meta-analysis of MTHFR 677C→T polymorphism and coronary heart disease: Does totality of evidence support causal role for homocysteine and preventive potential of folate?. BMJ 2005, 331:1053-6. 10.1136/bmj.38611.658947.55, 1283183, 16216822.
37. Tobin MD, Sheehan NA, Scurrah KJ, Burton PR. Adjusting for treatment effects in studies of quantitative traits: antihypertensive therapy and systolic blood pressure. Statist Med 2005, 24:2911-35.
38. Grady D, Rubin SM, Petitti DB, et al. Hormone therapy to prevent disease and prolong life in postmenopausal women. Ann Intern Med 1992, 117:1016-37.
39. Anderson GL, Limacher M, Assaf AR, et al. Effects of conjugated equine estrogen in postmenopausal women with hysterectomy: the Women's Health Initiative randomized controlled trial. JAMA 2004, 291:1701-12. 10.1001/jama.291.14.1701, 15082697.
40. Little J, Higgins JP, Ioannidis JP, et al. STrengthening the REporting of Genetic Association studies (STREGA)--an extension of the STROBE statement. Eur J Clin Invest 2009, 39:247-66. 10.1111/j.1365-2362.2009.02125.x, 2730482, 19297801.
41. Ioannidis JP, Thomas G, Daly MJ. Validating, augmenting and refining genome-wide association signals. Nat Rev Genet 2009, 10:318-29. 10.1038/nrg2544, 19373277.
42. Samani NJ, Erdmann J, Hall AS, et al. Genomewide association analysis of coronary artery disease. N Engl J Med 2007, 357:443-53. 10.1056/NEJMoa072366, 2719290, 17634449.
43. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009, 46:747-53.
44. Milos PM. Emergence of single-molecule sequencing and potential for molecular diagnostic applications. Expert Rev Mol Diagn 2009, 9:659-66. 10.1586/erm.09.50, 2949964, 19817551.
45. Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J Med 2010, 363:166-76. 10.1056/NEJMra0905980, 20647212.
46. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009, 46:747-53.
47. Census 2006 Portrait of the Canadian Population in 2006, by Age and Sex. 2010, Census 2006., http://www.statcan.gc.ca/bsolc/olc-cel/olc-cel?lang=eng&catno=97-551-X. December 21
48. National Institutes of Health, Heart National, Lung, and Blood Institute. Incidence and Prevalence 2006 Chart Book on Cardiovascular and Lung Diseases. 2006, Bethesda, Md: National Heart, Lung, and Blood Institute, Accessed Nov 17, 2009, National Institutes of Health, Heart National, Lung, and Blood Institute. Incidence and Prevalence., http://www.nhlbi.nih.gov/resources/docs/06a_ip_chtbk.pdf