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Updated: Feb 13, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
Gene Expression Meta-Analysis of Seven Candidate Gene Sets for Diabetes Traits Following a GWAS Pathway Study
Hao Mei1,2, Lianna Li3, Michael Griswold1
1Department of Data Science, School of Population Health, University of Mississippi Medical Center, Jackson, MS, United States.
Abstract:
Seven gene sets were significantly enriched for SNP associations with diabetes, and considered as potential diabetes pathways in a previous meta-analysis of diabetes GWAS. This study aims to examine if these gene sets also have expression associations with diabetes. The analysis was conducted using pooled data from 23 diabetes gene expression studies. Gene associations were examined using linear modeling with an empirical Bayes approach, and pathway associations were investigated by testing enrichment for significant genes. Meta-analyses were performed to investigate gene and pathway associations in all studies and tissue types. The analysis showed that six gene sets and three member genes of ACADSB, RASSF2, and KLF12 had significant associations with diabetes traits. The findings suggest that these gene sets are related to diabetes regulation, and their functions tend to be tissue non-specific.
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