Journal article

Integrated analysis of genome-wide genetic and epigenetic association data for identification of disease mechanisms

Xiayi Ke, Mario Cortina-Borja, Bruno Cesar Silva, Robert Lowe, Vardhman Rakyan, David Balding



Many human diseases are multifactorial, involving multiple genetic and environmental factors impacting on one or more biological pathways. Much of the environmental effect is believed to be mediated through epigenetic changes. Although many genome-wide genetic and epigenetic association studies have been conducted for different diseases and traits, it is still far from clear to what extent the genomic loci and biological pathways identified in the genetic and epigenetic studies are shared. There is also a lack of statistical tools to assess these important aspects of disease mechanisms. In the present study, we describe a protocol for the integrated analysis of genome-wide genetic and epigen..

View full abstract

University of Melbourne Researchers


Awarded by UK Medical Research Council

Awarded by Medical Research Council

Funding Acknowledgements

The University College London (UCL) Institute of Child Health receives a proportion of funding from the Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme. Part of this work was undertaken at the Centre for Paediatric Epidemiology and Biostatistics, (UCL, London) which benefits from funding support from the MRC in its capacity as the MRC Centre of Epidemiology for Child Health. The Medical Research Council Centre of Epidemiology for Child Health is supported by funds from the UK Medical Research Council (grant G0400546). The authors also wish to thank the Wellcome Trust Case Control Consortium (WTCCC) and the Database of Genotypes and Phenotypes (dbGaP) for providing relevant genotyping data and summary GWAS analysis results in the study. The authors acknowledge the use of the UCL Legion High Performance Computer Facility (Legion@UCL), and associated support service, in the completion of this work.