Population-based case-control association studies

Dana B. Hancock, William K. Scott

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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 discussesmeasures 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.

Original languageEnglish (US)
Article number1.17
JournalCurrent protocols in human genetics
Issue numberSUPPL.74
StatePublished - Jul 2012


  • Association
  • Candidate gene
  • Case-control study
  • Confounding
  • Genome-wide
  • Logistic regression
  • Meta-analysis
  • Sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Medicine(all)


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