Study design and analysis considerations in genome-wide studies of gene-environment interactions

Joanna M. Biernacka, Joseph Usset, Brooke L. Fridley, Stacey J. Winham

Research output: Chapter in Book/Report/Conference proceedingChapter


Most complex human diseases are believed to be influenced by a combination of genetic and environmental factors, and gene-environment interactions are thought to play a crucial role in the development of complex diseases and disease prognosis. Numerous candidate gene studies to investigate specific gene-environment interactions have been performed, and hypothesis-generating genome-wide gene-environment interaction studies are beginning to emerge. This chapter provides an overview of study designs, various analytical approaches for studying gene-environment interactions, and potential sources of biases. Powerful statistical approaches suitable for genome-wide analyses, including two-step filtering approaches, data-mining methods, and gene-level and pathway-level analyses are also discussed.

Original languageEnglish (US)
Title of host publicationGene-Environment Interactions and Human Diseases
PublisherNova Science Publisher Inc.
Number of pages19
ISBN (Electronic)9781634837064
ISBN (Print)9781634836807
StatePublished - Jan 1 2016


  • Bias
  • Data-mining
  • Gene-environment interaction
  • Genome-wide gene-environment studies
  • Multi-marker

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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