Integrating genome‐wide association study summaries and element‐gene interaction datasets identified multiple associations between elements and complex diseases

ABSTRACT Chemical elements are closely related to human health. Extensive genomic profile data of complex diseases offer us a good opportunity to systemically investigate the relationships between elements and complex diseases/traits. In this study, we applied gene set enrichment analysis (GSEA) approach to detect the associations between elements and complex diseases/traits though integrating element‐gene interaction datasets and genome‐wide association study (GWAS) data of complex diseases/traits. To illustrate the performance of GSEA, the element‐gene interaction datasets of 24 elements were extracted from the comparative toxicogenomics database (CTD). GWAS summary datasets of 24 complex diseases or traits were downloaded from the dbGaP or GEFOS websites. We observed significant associations between 7 elements and 13 complex diseases or traits (all false discovery rate (FDR)