Genome-Wide Association and Transcriptome-Wide Association Studies Identify Novel Susceptibility Genes Contributing to Colorectal Cancer

Figure 1

Schematic workflow of this study. We performed a TWAS for the CRC based on the publicly available GWAS datasets and the eQTL datasets. The GWAS datasets were derived from CRC GWAS summary statistics from UK Biobank analysis results; participants ( cases, controls) were of European genetic ancestry. The eQTL dataset was from GTEx (v7). Follow-up analyses, including the SMR, colocalization analyses, conditional analysis, fine-mapping analysis, and pheWAS, were performed to extensively characterize the identified associations. CRC: colorectal cancer; eQTL: expression quantitative trait loci; GTEx: Genotype-Tissue Expression Project; GWAS: genome-wide association study; pheWAS: phenome-wide association study; SMR: summary data-based Mendelian randomization; SNP: single nucleotide polymorphism; UKBB: UK Biobank; WGS: whole-genome sequencing.