Exome localization of complex disease association signals

Benjamin Lehne, Cathryn M. Lewis, Thomas Schlitt

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

Background: Genome-wide association studies (GWAS) of common diseases have had a tremendous impact on genetic research over the last five years; the field is now moving from microarray-based technology towards next-generation sequencing. To evaluate the potential of association studies for complex diseases based on exome sequencing we analysed the distribution of association signal with respect to protein-coding genes based on GWAS data for seven diseases from the Wellcome Trust Case Control Consortium.Results: We find significant concentration of association signal in exons and genes for Crohn's Disease, Type 1 Diabetes and Bipolar Disorder, but also observe enrichment from up to 40 kilobases upstream to 40 kilobases downstream of protein-coding genes for Crohn's Disease and Type 1 Diabetes; the exact extent of the distribution is disease dependent.Conclusions: Our work suggests that exome sequencing may be a feasible approach to find genetic variation associated with complex disease. Extending the exome sequencing to include flanking regions therefore promises further improvement of covering disease-relevant variants.

Original languageEnglish
Article number92
JournalBMC Genomics
Volume12
DOIs
StatePublished - 1 Feb 2011
Externally publishedYes

Fingerprint

Dive into the research topics of 'Exome localization of complex disease association signals'. Together they form a unique fingerprint.

Cite this