Genes, environment and the value of prospective cohort studies

Case–control studies have many advantages for identifying disease-related genes, but are limited in their ability to detect gene–environment interactions. The prospective cohort design provides a valuable complement to case–control studies. Although it has disadvantages in duration and cost, it has important strengths in characterizing exposures and risk factors before disease onset, which reduces important biases that are common in case–control studies. This and other strengths of prospective cohort studies make them invaluable for understanding gene–environment interactions in complex human disease.

[1]  J K McLaughlin,et al.  Selection of controls in case-control studies. III. Design options. , 1992, American journal of epidemiology.

[2]  J. Manson,et al.  The Nurses' Health Study: 20-year contribution to the understanding of health among women. , 1997, Journal of women's health.

[3]  J. Després,et al.  Visceral obesity attenuates the effect of the hepatic lipase -514C>T polymorphism on plasma HDL-cholesterol levels in French-Canadian men. , 2003, Molecular genetics and metabolism.

[4]  Birgir Hrafnkelsson,et al.  An Icelandic example of the impact of population structure on association studies , 2005, Nature Genetics.

[5]  R. Ward,et al.  Informativeness of genetic markers for inference of ancestry. , 2003, American journal of human genetics.

[6]  A Taube,et al.  Matching in retrospective studies; sampling via the dependent variable. , 1968, Acta Societatis Medicorum Upsaliensis.

[7]  JoAnn E. Manson,et al.  Design of the Women's Health Initiative clinical trial and observational study. The Women's Health Initiative Study Group. , 1998, Controlled clinical trials.

[8]  D. Sackett Bias in analytic research. , 1979, Journal of chronic diseases.

[9]  N. Kouprina,et al.  Separation of long-range human TERT gene haplotypes by transformation-associated recombination cloning in yeast , 2003, Oncogene.

[10]  Z. L. Monaco,et al.  Artificial and engineered chromosomes: developments and prospects for gene therapy , 2005, Chromosoma.

[11]  Joydeep Basu,et al.  Efficient assembly of de novo human artificial chromosomes from large genomic loci , 2005, BMC Biotechnology.

[12]  Simon Watkins,et al.  Personalized Exposure Assessment: Promising Approaches for Human Environmental Health Research , 2005, Environmental health perspectives.

[13]  Raj Chari,et al.  Recent advances in array comparative genomic hybridization technologies and their applications in human genetics , 2006, European Journal of Human Genetics.

[14]  Enrique Sanchez-Delgado,et al.  Lifetime risk of developing coronary heart disease , 1999, The Lancet.

[15]  Aravinda Chakravarti,et al.  Nature, nurture and human disease , 2003, Nature.

[16]  Eric S. Lander,et al.  The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes , 2000, Nature Genetics.

[17]  M. Olivier A haplotype map of the human genome. , 2003, Nature.

[18]  Joydeep Basu,et al.  Artificial and engineered chromosomes: non-integrating vectors for gene therapy. , 2005, Trends in molecular medicine.

[19]  R. Triendl Japan launches controversial Biobank project , 2003, Nature Medicine.

[20]  E Riboli,et al.  The EPIC Project: rationale and study design. European Prospective Investigation into Cancer and Nutrition. , 1997, International journal of epidemiology.

[21]  R. Doll Proof of Causality: Deduction from Epidemiological Observation , 2002, Perspectives in biology and medicine.

[22]  W. Kannel,et al.  The Framingham Study: ITS 50-year legacy and future promise. , 2000, Journal of atherosclerosis and thrombosis.

[23]  D. Hunter Gene–environment interactions in human diseases , 2005, Nature Reviews Genetics.

[24]  W James Gauderman,et al.  Sample size requirements for matched case‐control studies of gene–environment interaction , 2002, Statistics in medicine.

[25]  H. Austin,et al.  Limitations in the application of case-control methodology. , 1994, Epidemiologic reviews.

[26]  Will Investments in Large-Scale Prospective Cohorts and Biobanks Limit Our Ability to Discover Weaker, Less Common Genetic and Environmental Contributors to Complex Diseases? , 2004, Environmental health perspectives.

[27]  P. Wilson,et al.  Dietary Fat Intake Determines the Effect of a Common Polymorphism in the Hepatic Lipase Gene Promoter on High-Density Lipoprotein Metabolism: Evidence of a Strong Dose Effect in This Gene-Nutrient Interaction in the Framingham Study , 2002, Circulation.

[28]  A R Feinstein,et al.  The case-control study: valid selection of subjects. , 1985, Journal of chronic diseases.

[29]  H. Stefánsson,et al.  Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes , 2006, Nature Genetics.

[30]  Jinbo Chen,et al.  Genetic Variation and Willingness to Participate in Epidemiologic Research: Data from Three Studies , 2005, Cancer Epidemiology Biomarkers & Prevention.

[31]  S. Studenski,et al.  Association of long-distance corridor walk performance with mortality, cardiovascular disease, mobility limitation, and disability. , 2006, JAMA.

[32]  T. Manolio Novel risk markers and clinical practice. , 2003, The New England journal of medicine.

[33]  J. Neyman Statistics—Servant of All Science , 1955 .

[34]  D O Stram,et al.  A multiethnic cohort in Hawaii and Los Angeles: baseline characteristics. , 2000, American journal of epidemiology.

[35]  N. Mantel Synthetic retrospective studies and related topics. , 1973, Biometrics.

[36]  W. Earnshaw,et al.  Efficiency of de novo centromere formation in human artificial chromosomes. , 2002, Genomics.

[37]  David Clayton,et al.  Epidemiological methods for studying genes and environmental factors in complex diseases , 2001, The Lancet.

[38]  J. Ellenberg,et al.  Sample selection and the natural history of disease. Studies of febrile seizures. , 1980, JAMA.

[39]  Muin J Khoury,et al.  The case for a global human genome epidemiology initiative , 2004, Nature Genetics.

[40]  H. Willard,et al.  Alpha-satellite DNA and vector composition influence rates of human artificial chromosome formation. , 2002, Molecular therapy : the journal of the American Society of Gene Therapy.

[41]  A. Folsom,et al.  Coagulation factors, inflammation markers, and venous thromboembolism: the longitudinal investigation of thromboembolism etiology (LITE). , 2002, The American journal of medicine.

[42]  Evan E. Eichler,et al.  An assessment of the sequence gaps: Unfinished business in a finished human genome , 2004, Nature Reviews Genetics.

[43]  J. Lupski,et al.  Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. , 2004, Human molecular genetics.

[44]  J. Stamler Blood pressure and high blood pressure. Aspects of risk. , 1991, Hypertension.

[45]  Terrence S. Furey,et al.  The DNA sequence and biology of human chromosome 19 , 2004, Nature.

[46]  L. Hsu,et al.  The interactive effects of hepatic lipase gene promoter polymorphisms with sex and obesity on high-density-lipoprotein cholesterol levels in Taiwanese-Chinese. , 2004, Atherosclerosis.

[47]  M. Olivier A haplotype map of the human genome , 2003, Nature.

[48]  J K McLaughlin,et al.  Selection of controls in case-control studies. I. Principles. , 1992, American journal of epidemiology.

[49]  S. Naylor,et al.  Promise and Challenge: Markers of Prostate Cancer Detection, Diagnosis and Prognosis , 2004, Disease markers.

[50]  T. Okazaki,et al.  Generation of human artificial chromosomes expressing naturally controlled guanosine triphosphate cyclohydrolase I gene , 2002, Genes to cells : devoted to molecular & cellular mechanisms.

[51]  E. Marshall Whose DNA Is It, Anyway? , 1997, Science.

[52]  M. Khoury,et al.  Public Attitudes regarding the Donation and Storage of Blood Specimens for Genetic Research , 2001, Public Health Genomics.

[53]  E. Eichler,et al.  Segmental duplications and copy-number variation in the human genome. , 2005, American journal of human genetics.

[54]  E. Feskens,et al.  Interactions of dietary fat intake and the hepatic lipase -480C-->T polymorphism in determining hepatic lipase activity: the Hoorn Study. , 2005, The American journal of clinical nutrition.

[55]  R. Prentice,et al.  On the design of synthetic case-control studies. , 1986, Biometrics.

[56]  E. Thomson,et al.  The Ethical, Legal, and Social Implications Research Program at the National Human Genome Research Institute , 1997, Kennedy Institute of Ethics journal.

[57]  J. V. Moran,et al.  Initial sequencing and analysis of the human genome. , 2001, Nature.

[58]  L. Feuk,et al.  Structural variants: changing the landscape of chromosomes and design of disease studies. , 2006, Human molecular genetics.

[59]  Francis S. Collins,et al.  The case for a US prospective cohort study of genes and environment , 2004, Nature.

[60]  W. Kannel,et al.  Clinical misconceptions dispelled by epidemiological research. , 1995, Circulation.

[61]  Y. Ben-Shlomo,et al.  Magnitude and causes of mortality differences between married and unmarried men. , 1993, Journal of epidemiology and community health.

[62]  Virginia Barbour,et al.  UK Biobank: a project in search of a protocol? , 2003, The Lancet.

[63]  Sander Greenland,et al.  Case–Control Studies , 2008 .

[64]  H. Cooke,et al.  Construction of human artificial chromosome vectors by recombineering. , 2005, Gene.

[65]  A. Folsom,et al.  The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. , 1989, American journal of epidemiology.

[66]  G. Taubes Epidemiology faces its limits. , 1995, Science.

[67]  T. Dawber,et al.  The Framingham Eye Study monograph: An ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975. , 1980, Survey of ophthalmology.

[68]  Elio Riboli,et al.  The EPIC Project: Rationale and study design , 1997 .

[69]  Timothy B. Stockwell,et al.  The Sequence of the Human Genome , 2001, Science.

[70]  Junjun Zhang,et al.  Hotspots for copy number variation in chimpanzees and humans. , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[71]  P. Albert,et al.  Models for longitudinal data: a generalized estimating equation approach. , 1988, Biometrics.

[72]  B Langholz,et al.  Cohort studies for characterizing measured genes. , 1999, Journal of the National Cancer Institute. Monographs.

[73]  E. Tai,et al.  Dietary fat interacts with the -514C>T polymorphism in the hepatic lipase gene promoter on plasma lipid profiles in a multiethnic Asian population: the 1998 Singapore National Health Survey. , 2003, The Journal of nutrition.

[74]  E. Boerwinkle,et al.  Factor XIIIA Val34Leu Polymorphism Does Not Predict Risk of Coronary Heart Disease: The Atherosclerosis Risk in Communities (ARIC) Study , 2002, Arteriosclerosis, thrombosis, and vascular biology.