UNIT 1.17 Population-Based Case-Control Association Studies

  1. Dana B. Hancock,
  2. William K. Scott

Published Online: 1 JAN 2007

DOI: 10.1002/0471142905.hg0117s52

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Hancock, D. B. and Scott, W. K. 2007. Population-Based Case-Control Association Studies. Current Protocols in Human Genetics. 52:1.17.1–1.17.13.

Author Information

  1. Duke University Medical Center, Durham, North Carolina

Publication History

  1. Published Online: 1 JAN 2007
  2. Published Print: JAN 2007

This is not the most recent version of the article. View current version (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, discusses selection of genetic markers for use in studies, introduces basic methods of analysis of case-control data, and discusses measures of association and impact. Controlling for confounding (including population stratification), consideration of multiple loci, and haplotype analysis are briefly discussed. Readers are referred to basic texts on epidemiology for more details on general conduct of case-control studies.


  • association;
  • case-control study;
  • confounding;
  • logistic regression;
  • chi-square test.