UNIT 1.17 Population-Based Case-Control Association Studies

  1. Dana B. Hancock1,
  2. William K. Scott2

Published Online: 1 JUL 2012

DOI: 10.1002/0471142905.hg0117s74

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Hancock, D. B. and Scott, W. K. 2012. Population-Based Case-Control Association Studies. Current Protocols in Human Genetics. 74:1.17:1.17.1–1.17.20.

Author Information

  1. 1

    Research Triangle Institute International, Research Triangle Park, North Carolina

  2. 2

    University of Miami, Miami, Florida

Publication History

  1. Published Online: 1 JUL 2012


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. Curr. Protoc. Hum. Genet. 74:1.17.1-1.17.20. © 2012 by John Wiley & Sons, Inc.


  • association;
  • candidate gene;
  • case-control study;
  • confounding;
  • genome-wide;
  • logistic regression;
  • meta-analysis;
  • sequencing