cis-Expression QTL analysis of established colorectal cancer risk variants in colon tumors and adjacent normal tissue

Autor: Robert Gryfe, Iona Cheng, Maarit Tiirikainen, Lucas M. Dunklee, Lenora W. M. Loo, Steven Gallinger, Robert W. Haile, Graham Casey, James M. Church, Daniel J. Weisenberger, Annette Lum-Jones, Stephen N. Thibodeau, Loic Le Marchand, Ann Seifried, David Duggan
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Colon
Colorectal cancer
Quantitative Trait Loci
lcsh:Medicine
Genome-wide association study
Biology
Quantitative trait locus
Molecular Genetics
03 medical and health sciences
0302 clinical medicine
Risk Factors
Molecular Cell Biology
Gastrointestinal Tumors
Genetics
medicine
Humans
SNP
Genetic Predisposition to Disease
Allele
lcsh:Science
030304 developmental biology
Regulation of gene expression
0303 health sciences
Multidisciplinary
Cancer Risk Factors
Gene Expression Profiling
lcsh:R
Computational Biology
Cancers and Neoplasms
Genomics
Middle Aged
medicine.disease
3. Good health
Gene Expression Regulation
Neoplastic

Gene expression profiling
Oncology
030220 oncology & carcinogenesis
DNA methylation
Medicine
lcsh:Q
Colorectal Neoplasms
Population Genetics
Research Article
Genes
Neoplasm

Genome-Wide Association Study
Zdroj: PLoS ONE, Vol 7, Iss 2, p e30477 (2012)
PLoS ONE
ISSN: 1932-6203
Popis: Genome-wide association studies (GWAS) have identified 19 risk variants associated with colorectal cancer. As most of these risk variants reside outside the coding regions of genes, we conducted cis-expression quantitative trait loci (cis-eQTL) analyses to investigate possible regulatory functions on the expression of neighboring genes. Forty microsatellite stable and CpG island methylator phenotype-negative colorectal tumors and paired adjacent normal colon tissues were used for genome-wide SNP and gene expression profiling. We found that three risk variants (rs10795668, rs4444235 and rs9929218, using near perfect proxies rs706771, rs11623717 and rs2059252, respectively) were significantly associated (FDR q-value ≤0.05) with expression levels of nearby genes (
Databáze: OpenAIRE