The future of genetic case-control studies. Adv Genet 2001;42:191-212
Date
10/19/2000Pubmed ID
11037322DOI
10.1016/s0065-2660(01)42023-2Scopus ID
2-s2.0-0035220161 (requires institutional sign-in at Scopus site) 89 CitationsAbstract
The case-control study design has been a veritable workhorse in epidemiological research since its inception and acceptance as a valid and valued field of inquiry. The reasons for this owe to the simplicity of the required sampling and the (potential) ease of analysis and interpretation of results. Unfortunately, there are a number of problems that plague the use of the case-control design in assessing relationships between genetic variation and disease susceptibility in the population at large. Many of these problems are entirely analogous to problems that inhere in applications of the case-control design in nongenetic settings. These problems include stratification, the assessment of statistical significance, heterogeneity, and the interpretation of multiple outcomes or phenotypic information. In this chapter we describe 10 problems thought to plague genetic case-control studies and offer potential solutions to each. Many of our proposed solutions require the use of multiple DNA markers to accommodate the genetic background of the individuals sampled as cases and controls. It is hoped that our discussions and proposals will spark further debate about the analysis and ultimate utility of the case-control study in genetic epidemiology research.
Author List
Schork NJ, Fallin D, Thiel B, Xu X, Broeckel U, Jacob HJ, Cohen DAuthor
Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Case-Control StudiesChi-Square Distribution
Cluster Analysis
Gene Frequency
Genetic Heterogeneity
Genetic Linkage
Genetics, Population
Haplotypes
Humans
Linkage Disequilibrium
Microsatellite Repeats
Models, Genetic
Models, Statistical
Phenotype
Renal Insufficiency
