Clustered environments and randomized genes: a fundamental distinction between conventional and genetic epidemiology

PLoS Medicine

Volumn 4, Issue 12, 2007, Pages 1985-1992

  Smith, George Davey ^a   Lawlor, Debbie A ^a   Harbord, Roger ^a   Timpson, Nic ^a   Day, Ian ^a   Ebrahim, Shah ^b  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; ARTICLE; BEHAVIOR; CHOLESTEROL BLOOD LEVEL; CORONARY ARTERY DISEASE; EPIDEMIOLOGICAL DATA; FEMALE; GENETIC EPIDEMIOLOGY; HEART DISEASE; HUMAN; INTERVIEW; MAJOR CLINICAL STUDY; QUESTIONNAIRE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIOECONOMICS; TRIACYLGLYCEROL BLOOD LEVEL; UNITED KINGDOM; AGED; CLINICAL TRIAL; CLUSTER ANALYSIS; CROSS-SECTIONAL STUDY; ENVIRONMENT; EPIDEMIOLOGY; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; GENOTYPE; HEALTH BEHAVIOR; LIFESTYLE; MIDDLE AGED; MULTICENTER STUDY; PATHOPHYSIOLOGY; PHENOTYPE; REPRODUCIBILITY; RISK ASSESSMENT;

AGED; CLUSTER ANALYSIS; CONFOUNDING FACTORS (EPIDEMIOLOGY); CROSS-SECTIONAL STUDIES; ENVIRONMENT; EPIDEMIOLOGIC METHODS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; GREAT BRITAIN; HEALTH BEHAVIOR; HEART DISEASES; HUMANS; LIFE STYLE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; RISK ASSESSMENT; RISK FACTORS; SOCIOECONOMIC FACTORS;

EID: 38049023073     PISSN: 15491277     EISSN: 15491676     Source Type: Journal    
DOI: 10.1371/journal.pmed.0040352     Document Type: Article

References (48)

1. Davey Smith G, Ebrahim S (2001). Epidemiology - is it time to call it a day? Int J Epidemiol 30: 1-11.
2. Lawlor DA, Davey Smith G, Bruckdorfer KR, Kundu D, Ebrahim S (2004) Those confounded vitamins: what can we learn from the differences between observational versus randomized trial evidence? Lancet 363: 1724-1727.
3. Vandenbroucke JP (2004) When are observational studies as credible as randomized trials? Lancet 363: 1728-1731.
4. Phillips AN, Davey Smith G (1992) Bias in relative odds estimation owing to imprecise measurement of correlated exposures. Stat Med 11: 953-961.
5. Davey Smith G, Phillips AN (1992) Confounding in epidemiological studies: why "independent" effects may not be all they seem. BMJ 305: 757-759.
6. Rothman KJ, Greenland S, editors (1998) Modern epidemiology. 2nd edition. Philadelphia (Pennsylvania): Lippincott/Raven. 738 p.
7. Sterne J, Davey Smith G (2001) Sifting the evidence - what's wrong with significance tests? BMJ 322: 226-231.
8. Sterne JAC, Egger M, Davey Smith G (2001) Investigating and dealing with publication and other biases in meta-analysis. BMJ 323: 101-105.
9. Macleod J, Davey Smith G, Heslop P, Metcalfe C, Carroll D, et al. (2002) Psychological stress and cardiovascular disease: empirical demonstration of bias in a prospective observational study on Scottishmen. BMJ 324: 1247-1251.
10. Davey Smith G, Ebrahim S (2003) 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol 32: 1-22.
11. Didelez V, Sheehan NA (2007) Mendelian randomization: why epidemiology needs a formal language for causality. In: Russo F, Williamson J editors. Causality and probability in the sciences. London: College Publications.
12. Lewis SJ, Davey Smith G (2005) Alcohol, ALDH2, and esophageal cancer: a meta-analysis which illustrates the potentials and limitations of a MR approach. Cancer Epidemiol Biomarkers Prev 14: 1967-1971.
13. Casas JP, Shah T, Cooper J, Hawe E, McMahon AD, et al. (2006) Insight into the nature of the CRP-coronary event association using mendelian randomization. Int J Epidemiol 35: 922-931.
14. Keavney B, Danesh J, Parish S, Palmer A, Clark S, et al. (2006) Fibrinogen and coronary heart disease: test of causality by 'mendelian randomization.' Int J Epidemiol 35: 935-943.
15. Timpson NJ, Lawlor DA, Harbord RM, Gaunt TR, Day INM, et al. (2005) C-reactive protein and its role in metabolic syndrome: mendelian randomization study. Lancet 366: 1954-1959.
16. Davey Smith G, Harbord R, Milton J, Ebrahim S, Sterne JAC (2005) Does elevated plasma fibrinogen increase the risk of coronary heart disease?: Evidence from a meta-analysis of genetic association studies. Arterioscler Thromb Vasc Biol 25: 2228-2233.
17. Davey Smith G (2007) Capitalizing on mendelian randomization to assess the effects of treatments. J R Soc Med 100: 432-435.
18. Nitsch D, Molokhia M, Smeeth L, DeStavola BL, Whittaker JC, et al. (2006) Limits to causal inference based on mendelian randomization: A comparison with randomized controlled trials. Am J Epidemiol 163: 397-403.
19. Wacholder S, Rothman N, Caporaso N (2000) Population stratification in epidemiologic studies of common genetic variants and cancer: quantification of bias. J Natl Cancer Inst 92: 1151-1158.
20. Wacholder S, Rothman N, Caporaso N. (2002) Counterpoint: bias from population stratification is not a major threat to the validity of conclusions from epidemiological studies of common polymorphisms and cancer. Cancer Epidemiol Biomark Prev 11: 513-520.
21. Thomas DC, Witte JS. (2002) Point: population stratification: a problem for case-control studies of candidate-gene associations? Cancer Epidemiol Biomark Prev. 11: 505-512.
22. Cardon LR, Palmer LJ (2003) Wagging the dog? Population stratification and spurious allelic association. Lancet 361: 598-604.
23. Hoggart CJ, Parra EJ, Shriver MD, Bonilla C, Kittles RA, et al. (2003) Control of confounding of genetic associations in stratified populations. Am J Hum Genet 72: 1492-1504.
24. Epstein MP, Allen AS, Satten GA (2007) A simple and improved correction for population stratification in case-control studies. Am J Hum Genet 80: 921-930.
25. Davey Smith G, Lawlor D, Harbord R, Timpson N, Rumley A, et al. (2005) Association of C-reactive protein with blood pressure and hypertension: lifecourse confounding and mendelian randomization tests of causality. Arterioscler Thromb Vasc Biol 25: 1051-1056.
26. Phillips A, Davey Smith G (1991) How independent are " independent" effects? Relative risk estimation when correlated exposures are measured imprecisely. J Clin Epidemiol 44: 1223-1231.
27. Davey Smith G, Ebrahim S (2002) Data dredging, bias, or confounding [editorial]. BMJ 325: 1437-1438.
28. Davey Smith G, Phillips AN, Neaton JD. (1992) Smoking as "independent" risk factor for suicide: illustration of an artifact from observational epidemiology? Lancet 340: 709-12
29. Manson JE, Stampfer MJ, Willett WC (1993) Antioxidant vitamins and the secondary prevention of cardiovascular disease in women [abstract]. Circulation 88: I-70.
30. The Alpha-Tocopherol, Beta Carotene Cancer Prevention Study Group (1994) The effect of vitamin E and beta carotene on the incidence of lung cancer and other cancers in male smokers. N Engl J Med 330: 1029-1035.
31. Ioannidis JPA, Trikalinos TA (2005) Early extreme contradictory estimates may appear in published research: the Proteus phenomenon in molecular genetics research and randomized trials. J Clin Epidemiol 58: 543-549.
32. Lawlor DA, Davey Smith G, Bruckdorfer KR, Tilling K, Ebrahim S (2004) Observational versus randomized trial evidence [correspondence]. Lancet. 364: 754-755.
33. Khoury MJ, Flanders WD (1996) Nontraditional epidemiologic approaches in the analysis of gene-environment interaction: case-control studies with no controls. Am J Epidemiol 144: 207-213.
34. Shin J-H, McNeney B, Graham J (2007) Case-control inference of interaction between genetic and nongenetic risk factors under assumptions on their distribution. Stat Appl Genet Mol Biol 6: 1-41.
35. Umbach DM, Weinberg CR (1997) Designing and analysing case-control studies to exploit independence of genotype and exposure. Stat Med 16: 1731-1743.
36. Chatterjee N, Carroll RJ (2005) Semiparametric maximum likelihood estimation exploiting gene-environment independence in case-control studies. Biometrika 92: 399-418.
37. Chatterjee N, Kalaylioglu Z, Carroll RJ (2005) Exploiting gene-environment independence in family-based case-control studies: increased power for detecting associations, interactions and joint effects. Genet Epidemiol 28: 138-156.
38. Modan B, Hartge P, Hirsh-Yechezkel G, Chetrit A, Lubin F, et al. (2001) Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. N Engl J Med 345: 235-40.
39. Davey Smith G, Lawlor DA, Timpson NJ, Baban J, Kiessling M, et al. (2007) Lactase persistence related genetic variant: population substructure, milk drinking and health outcomes. Eur J Hum Genet. In press.
40. Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, et al. (2005) Demonstrating stratification in a European American population. Nat Genet 37: 868-872.
41. Thompson JF, Lira ME, Durham LK, Clark RW, Bamberger MJ, et al. (2003) Polymorphisms in the CETP gene and association with CETP mass and HDL levels. Atherosclerosis 167: 195-204.
42. Dachet C, Poirier O, Cambien F, Chapman J, Rouis M, et al. (2000) New functional promoter polymorphism, CETP/-629, incholesteryl ester transfer protein (CETP) gene related to CETP mass and high density lipoprotein cholesterol levels: role of Sp1/Sp3 in transcriptional regulation. Arterioscler Thromb Vasc Biol 20: 507-515.
43. Ordovas J, Cupples L, Corella D, Otvos J, Osgood D, et al. (2000) Association of cholesteryl ester transfer protein-TaqIB polymorphism with variations in lipoprotein subclasses and coronary heart disease risk: the Framingham study. Arterioscler Thromb Vasc Biol 20: 1323-1329.
44. Georges JL, Regis-Bailey A, Salah D, Rakotovao R, Siest G, et al. (1996) Family study of lipoprotein lipase gene polymorphisms and plasma triglyceride levels. Genet Epidemiol 13: 179-192.
45. Bhatti P, Sigurdson AJ, Wang SS, Chen J, Rothman N, et al. (2005) Genetic variation and willingness to participate in epidemiological research: data from three studies. Cancer Epidemiol Biomarkers Prev 14: 2449-2453.
46. Smits KM, Benhamou S, Garte S, Weijenberg MP, Alamanos Y, et al. (2004) Association of metabolic gene polymorphisms with tobacco consumption in healthy controls. Int J Cancer 110: 266-270.
47. The Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common disease and 3,000 shared controls. Nature 447: 661-678.
48. Jaffee SR, Price TS (2007) Gene-environment correlations: a review of the evidence and implication for prevention of mental illness. Mol Psychiatry 12: 432-442.