From SNPs to genes: Disease association at the gene level

Benjamin Lehne, Cathryn M. Lewis, Thomas Schlitt

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


Interpreting Genome-Wide Association Studies (GWAS) at a gene level is an important step towards understanding the molecular processes that lead to disease. In order to incorporate prior biological knowledge such as pathways and protein interactions in the analysis of GWAS data it is necessary to derive one measure of association for each gene. We compare three different methods to obtain gene-wide test statistics from Single Nucleotide Polymorphism (SNP) based association data: choosing the test statistic from the most significant SNP; the mean test statistics of all SNPs; and the mean of the top quartile of all test statistics. We demonstrate that the gene-wide test statistics can be controlled for the number of SNPs within each gene and show that all three methods perform considerably better than expected by chance at identifying genes with confirmed associations. By applying each method to GWAS data for Crohn's Disease and Type 1 Diabetes we identified new potential disease genes.

Original languageEnglish
Article numbere20133
JournalPLoS ONE
Issue number6
StatePublished - 2011
Externally publishedYes


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