Journal article

Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways

Hariklia Eleftherohorinou, Clive J Hoggart, Victoria J Wright, Michael Levin, Lachlan JM Coin



Rheumatoid arthritis (RA) is the commonest chronic, systemic, inflammatory disorder affecting ∼1% of the world population. It has a strong genetic component and a growing number of associated genes have been discovered in genome-wide association studies (GWAS), which nevertheless only account for 23% of the total genetic risk. We aimed to identify additional susceptibility loci through the analysis of GWAS in the context of biological function. We bridge the gap between pathway and gene-oriented analyses of GWAS, by introducing a pathway-driven gene stability-selection methodology that identifies potential causal genes in the top-associated disease pathways that may be driving the pathway as..

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University of Melbourne Researchers


Awarded by European Community

Awarded by European Union

Awarded by Medical Research Council

Funding Acknowledgements

This work was supported by the Imperial College Division of Medicine PhD Scholarship of H. E., as part of her PhD. It was also supported by the European Community's Seventh Framework Programme, grant number 223367 (MultiMod). C.J.H. is funded by the European Union grant HEALTH-2007-201550 HyperGenes.