Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies

Nucleic Acids Res. 2009 Jul;37(Web Server issue):W340-4. doi: 10.1093/nar/gkp481. Epub 2009 Jun 5.

Abstract

Genome-wide association studies have become a popular strategy to find associations of genes to traits of interest. Despite the high-resolution available today to carry out genotyping studies, the success of its application in real studies has been limited by the testing strategy used. As an alternative to brute force solutions involving the use of very large cohorts, we propose the use of the Gene Set Analysis (GSA), a different analysis strategy based on testing the association of modules of functionally related genes. We show here how the Gene Set-based Analysis of Polymorphisms (GeSBAP), which is a simple implementation of the GSA strategy for the analysis of genome-wide association studies, provides a significant increase in the power testing for this type of studies. GeSBAP is freely available at http://bioinfo.cipf.es/gesbap/.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biological Phenomena / genetics
  • Breast Neoplasms / genetics
  • Female
  • Genes
  • Genetic Variation
  • Genome-Wide Association Study*
  • Humans
  • Polymorphism, Single Nucleotide*
  • Software*
  • User-Computer Interface