Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk

0373890 - ÚEM 2013 RIV GB eng J - Článek v odborném periodiku
Pardini, Barbara - Naccarati, Alessio - Vodička, Pavel (ed.) - Kumar, R.
Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk.
Mutagenesis. Roč. 27, č. 2 (2012), s. 161-167. ISSN 0267-8357. E-ISSN 1464-3804
Grant CEP: GA ČR GP305/09/P194; GA ČR GAP304/10/1286
Výzkumný záměr: CEZ:AV0Z50390512
Klíčová slova: master regulators of transcrition * genome-wide association studies (GWAS) * colorectal cancer
Kód oboru RIV: EB - Genetika a molekulární biologie
Impakt faktor: 3.500, rok: 2012

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
Trvalý link: http://hdl.handle.net/11104/0206944