Pathway-based approaches for analysis of genomewide association studies

Am J Hum Genet. 2007 Dec;81(6):1278-83. doi: 10.1086/522374.


Published genomewide association (GWA) studies typically analyze and report single-nucleotide polymorphisms (SNPs) and their neighboring genes with the strongest evidence of association (the "most-significant SNPs/genes" approach), while paying little attention to the rest. Borrowing ideas from microarray data analysis, we demonstrate that pathway-based approaches, which jointly consider multiple contributing factors in the same pathway, might complement the most-significant SNPs/genes approach and provide additional insights into interpretation of GWA data on complex diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Genes / genetics*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Models, Genetic
  • Polymorphism, Single Nucleotide / genetics*
  • Research Design*
  • Signal Transduction*