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In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants.

ABSTRACT: Genome-wide association studies have identified 55 genetic variants associated with colorectal cancer risk to date. However, potential causal genes and pathways regulated by these risk variants remain to be characterized. Therefore, we performed gene ontology enrichment and pathway analyses to determine if there was an enrichment of genes in proximity to the colorectal cancer risk variants that could further elucidate the probable causal genes and pathways involved in colorectal cancer biology.For the 65 unique genes that either contained, or were immediately neighboring up- and downstream, of these variants there was a significant enrichment for the KEGG pathway, Pathways in Cancer (p-value?=?2.67 × 10-5) and an enrichment for multiple biological processes (FDR?

SUBMITTER: Loo LWM

PROVIDER: S-EPMC5432975 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants.

Loo Lenora W M LWM Lemire Mathieu M Le Marchand Loïc L

BMC genomics 20170515 1

<h4>Background</h4>Genome-wide association studies have identified 55 genetic variants associated with colorectal cancer risk to date. However, potential causal genes and pathways regulated by these risk variants remain to be characterized. Therefore, we performed gene ontology enrichment and pathway analyses to determine if there was an enrichment of genes in proximity to the colorectal cancer risk variants that could further elucidate the probable causal genes and pathways involved in colorect ...[more]

PMID: 28506205

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