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Updated: Jan 27, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
Pathway analysis of GWAS loci identifies novel drug targets and repurposing opportunities
Deepali Jhamb1, Michal Magid-Slav1, Mark R Hurle1
1Computational Biology, GSK R&D, Collegeville, PA, USA.
Abstract:
Genome-wide association studies (GWAS) have made considerable progress and there is emerging evidence that genetics-based targets can lead to 28% more launched drugs. We analyzed 1589 GWAS across 1456 pathways to translate these often imprecise genetic loci into therapeutic hypotheses for 182 diseases. These pathway-based genetic targets were validated by testing whether current drug targets were enriched in the pathway space for the same indication. Remarkably, 30% of diseases had significantly more targets in these pathways than expected by chance; the comparable number for GWAS alone (without pathway analysis) was zero. This study shows that a systematic global pathway analysis can translate genetic findings into therapeutic hypotheses for both new drug discovery and repositioning opportunities for current drugs.
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