title: Colorectal cancer risk genes are functionally enriched in regulatory pathways.
abstract: Colorectal cancer (CRC) is a common complex disease caused by the combination of genetic variants and environmental factors. Genome-wide association studies (GWAS) have been performed and reported some novel CRC susceptibility variants. However, the potential genetic mechanisms for newly identified CRC susceptibility variants are still unclear. Here, we selected 85 CRC susceptibility variants with suggestive association P < 1.00E-05 from the National Human Genome Research Institute GWAS catalog. To investigate the underlying genetic pathways where these newly identified CRC susceptibility genes are significantly enriched, we conducted a functional annotation. Using two kinds of SNP to gene mapping methods including the nearest upstream and downstream gene method and the ProxyGeneLD, we got 128 unique CRC susceptibility genes. We then conducted a pathway analysis in GO database using the corresponding 128 genes. We identified 44 GO categories, 17 of which are regulatory pathways. We believe that our results may provide further insight into the underlying genetic mechanisms for these newly identified CRC susceptibility variants.
authors.affiliation: Department of Gastroenterology, The First Affiliated Hospital of Harbin Medical University, No. 23 You zheng Street Nan Gang District, Harbin, Heilongjiang 150001, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Harbin Medical University, No. 23 You zheng Street Nan Gang District, Harbin, Heilongjiang 150001, China.
authors.forename: Mingming
authors.initials: M
authors.lastname: Cao
authors.affiliation: Department of Parasitology, Harbin Medical University, Harbin, Heilongjiang 150081, China.
authors.forename: Su
authors.initials: S
authors.lastname: Han
authors.affiliation: Department of Gastroenterology, The First Affiliated Hospital of Harbin Medical University, No. 23 You zheng Street Nan Gang District, Harbin, Heilongjiang 150001, China.
authors.forename: Youlin
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Harbin Medical University, No. 23 You zheng Street Nan Gang District, Harbin, Heilongjiang 150001, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Zhou
mesh_terms: D002874:Chromosome Mapping; D015179:Colorectal Neoplasms / Q000235:genetics*; D030541:Databases, Genetic; D053263:Gene Regulatory Networks; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide