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Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk
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SYSNO ASEP 0373890 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk Author(s) Pardini, Barbara (UEM-P)
Naccarati, Alessio (UEM-P)
Vodička, Pavel (UEM-P ed.) RID
Kumar, R. (DE)Source Title Mutagenesis. - : Oxford University Press - ISSN 0267-8357
Roč. 27, č. 2 (2012), s. 161-167Number of pages 7 s. Language eng - English Country GB - United Kingdom Keywords master regulators of transcrition ; genome-wide association studies (GWAS) ; colorectal cancer Subject RIV EB - Genetics ; Molecular Biology R&D Projects GP305/09/P194 GA ČR - Czech Science Foundation (CSF) GAP304/10/1286 GA ČR - Czech Science Foundation (CSF) CEZ AV0Z50390512 - UEM-P (2005-2011) UT WOS 000300040200004 DOI 10.1093/mutage/ger057 Annotation Low-penetrance genetic variations contribute significantly to sporadic and familial form of colorectal cancer (CRC). Genome-wide association studies (GWAS) have uncovered numerous robust associations between common variants and CRC risk; only a few of those were protein altering non-synonymous polymorphisms. One of the hypotheses is that non-coding and intergenic variants may change the expression levels of one or several target genes and, thus, account for a fraction of phenotypic differences, including susceptibility to CRC. Such genetic variations have been detected as expression quantitative loci (eQTLs) and defined as “master regulators of transcription”. Hereby we overview the potentialities to use results from GWAS and eQTL Workplace Institute of Experimental Medicine Contact Lenka Koželská, lenka.kozelska@iem.cas.cz, Tel.: 241 062 218, 296 442 218 Year of Publishing 2013
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