title: Pathway analysis of genome-wide association study and transcriptome data highlights new biological pathways in colorectal cancer.
abstract: Colorectal cancer (CRC) is a common malignancy that meets the definition of a complex disease. Genome-wide association study (GWAS) has identified several loci of weak predictive value in CRC, however, these do not fully explain the occurrence risk. Recently, gene set analysis has allowed enhanced interpretation of GWAS data in CRC, identifying a number of metabolic pathways as important for disease pathogenesis. Whether there are other important pathways involved in CRC, however, remains unclear. We present a systems analysis of KEGG pathways in CRC using (1) a human CRC GWAS dataset and (2) a human whole transcriptome CRC case-control expression dataset. Analysis of the GWAS dataset revealed significantly enriched KEGG pathways related to metabolism, immune system and diseases, cellular processes, environmental information processing, genetic information processing, and neurodegenerative diseases. Altered gene expression was confirmed in these pathways using the transcriptome dataset. Taken together, these findings not only confirm previous work in this area, but also highlight new biological pathways whose deregulation is critical for CRC. These results contribute to our understanding of disease-causing mechanisms and will prove useful for future genetic and functional studies in CRC.
authors.affiliation: Department of General Surgery, The First Hospital of Harbin, Harbin, China.
authors.forename: Baoku
authors.initials: B
authors.lastname: Quan
authors.forename: Xingsi
authors.initials: X
authors.lastname: Qi
authors.forename: Zhihui
authors.initials: Z
authors.lastname: Yu
authors.forename: Yongshuai
authors.initials: Y
authors.lastname: Jiang
authors.forename: Mingzhi
authors.initials: M
authors.lastname: Liao
authors.forename: Guangyu
authors.initials: G
authors.lastname: Wang
authors.forename: Rennan
authors.initials: R
authors.lastname: Feng
authors.forename: Liangcai
authors.initials: L
authors.lastname: Zhang
authors.forename: Zugen
authors.initials: Z
authors.lastname: Chen
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Jiang
authors.forename: Guiyou
authors.initials: G
authors.lastname: Liu
mesh_terms: D015179:Colorectal Neoplasms / Q000235:genetics* / Q000378:metabolism; D015972:Gene Expression Regulation, Neoplastic; D055106:Genome-Wide Association Study; D006801:Humans; D053858:Metabolic Networks and Pathways / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D059467:Transcriptome