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Ancestral susceptibility to colorectal cancer
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SYSNO ASEP 0373767 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Ancestral susceptibility to colorectal cancer Author(s) Huhn, S. (DE)
Pardini, Barbara (UEM-P)
Naccarati, Alessio (UEM-P)
Vodička, Pavel (UEM-P ed.) RID
Hemminki, K. (DE)
Försti, A. (DE)Source Title Mutagenesis. - : Oxford University Press - ISSN 0267-8357
Roč. 27, č. 2 (2012), s. 197-204Number of pages 8 s. Language eng - English Country GB - United Kingdom Keywords cancer susceptibility ; molecular epidemiology ; genetic susceptibility Subject RIV EB - Genetics ; Molecular Biology R&D Projects GA310/07/1430 GA ČR - Czech Science Foundation (CSF) GAP304/10/1286 GA ČR - Czech Science Foundation (CSF) CEZ AV0Z50390512 - UEM-P (2005-2011) UT WOS 000300040200008 EID SCOPUS 84856906091 DOI 10.1093/mutage/ger061 Annotation Several studies have shown that susceptibility to complex diseases can be mediated by ancestral alleles. Using RNAi screening, CTNNBL1 was identified as a putative regulator of the Wnt signaling pathway, which plays a key role in colorectal carcinogenesis. Recently, single nucleotide polymorphisms (SNPs) in CTNNBL1 have been associated with obesity, a known risk factor for CRC. We investigated whether genetic variation in CTNNBL1 affects susceptibility to CRC and tested for signals of recent selection. In the Czech cohort, containing sporadic cases, the ancestral alleles of three SNPs showed evidence of association with CRC: rs2344481 (OR 1.44, 95%CI 1.06-1.95, dominant model), rs2281148 (OR 0.59, 95%CI 0.36-0.96, dominant model) and rs2235460 (OR 1.38, 95%CI 1.01-1.89, AA vs. GG). Data derived from several databases and statistical tests consistently pointed to a likely shaping of CTNNBL1 by positive selection. 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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