Am J Epidemiol 2002; 156:300-310.
Copyright © 2002 by the
Johns Hopkins Bloomberg School of Public Health
HUMAN GENOME EPIDEMIOLOGY |
Reporting, Appraising, and Integrating Data on Genotype Prevalence and Gene-Disease Associations
1 Epidemiology Group, Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, Scotland.
2 Sunrise Medical Laboratory, Hauppauge, NY.
3 University of Texas Health Science Center at Houston, Houston, TX.
4 Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, GA.
5 Department of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA.
6 National Heart, Lung, and Blood Institute, Bethesda, MD.
7 Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
8 Division of Clinical Care Research, New England Medical Center, Boston, MA.
9 National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA.
10 Ospedale Policlinico IRCCS, Milano, Italy.
11 Biostatistics Division, Department of Preventative Medicine, University of Southern California, Los Angeles, CA.
12 International Agency for Research on Cancer, Lyon, France.
13 National Institute of Environmental Health Sciences, Research Triangle Park, NC.
The recent completion of the first draft of the human genome sequence and advances in technologies for genomic analysis are generating tremendous opportunities for epidemiologic studies to evaluate the role of genetic variants in human disease. Many methodological issues apply to the investigation of variation in the frequency of allelic variants of human genes, of the possibility that these influence disease risk, and of assessment of the magnitude of the associated risk. Based on a Human Genome Epidemiology workshop, a checklist for reporting and appraising studies of genotype prevalence and studies of gene-disease associations was developed. This focuses on selection of study subjects, analytic validity of genotyping, population stratification, and statistical issues. Use of the checklist should facilitate the integration of evidence from these studies. The relation between the checklist and grading schemes that have been proposed for the evaluation of observational studies is discussed. Although the limitations of grading schemes are recognized, a robust approach is proposed. Other issues in the synthesis of evidence that are particularly relevant to studies of genotype prevalence and gene-disease association are discussed, notably identification of studies, publication bias, criteria for causal inference, and the appropriateness of quantitative synthesis.
association; case-control studies; causality; cohort studies; epidemiologic methods; gene frequency; genetic techniques; meta-analysis
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