Population-based case-control association studies

Curr Protoc Hum Genet. 2012 Jul;Chapter 1:Unit1.17. doi: 10.1002/0471142905.hg0117s74.


This unit provides an overview of the design and analysis of population-based case-control studies of genetic risk factors for complex disease. Considerations specific to genetic studies are emphasized. The unit reviews basic study designs differentiating case-control studies from others, presents different genetic association strategies (candidate gene, genome-wide association, and high-throughput sequencing), introduces basic methods of statistical analysis for case-control data and approaches to combining case-control studies, and discusses measures of association and impact. Admixed populations, controlling for confounding (including population stratification), consideration of multiple loci and environmental risk factors, and complementary analyses of haplotypes, genes, and pathways are briefly discussed. Readers are referred to basic texts on epidemiology for more details on general conduct of case-control studies.

MeSH terms

  • Case-Control Studies*
  • Cohort Studies
  • Cross-Sectional Studies
  • Genetic Association Studies / methods*
  • Genome-Wide Association Study / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Research Design