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Updated: Jun 28, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
A polygenic model for integration of linkage and pathway information
J J P Lebrec1, I Nishchenko, H J van der Wijk
1Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands. j.j.p.lebrec@lumc.nl
Abstract:
We introduce an approximate model for linkage curves which accommodates the polygenic structure of complex diseases and accounts for the simultaneous action of closely located genes. The model is extended so that information on biological pathways can be integrated. Using data on rheumatoid arthritis, we describe some of the many applications which the model allows: it can be used to test for residual linkage in the presence of already established loci, to derive a global test for linkage, to test for the relevance of a gene list in terms of linkage and to help in candidate gene prioritization by integration of gene-pathway annotation data.
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