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Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications
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SYSNO ASEP 0367867 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve SCOPUS Title Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications Author(s) Huhn, S. (DE)
Ingelfinger, D. (DE)
Bermejo, J. L. (DE)
Bevier, M. (DE)
Pardini, Barbara (UEM-P)
Naccarati, Alessio (UEM-P)
Steinke, V. (DE)
Rahner, N. (DE)
Holinski-Feder, E. (DE)
Morak, M. (DE)
Schackert, H. K. (DE)
Görgens, H. (DE)
Pox, C. P. (DE)
Goecke, T. (DE)
Kloor, M. (DE)
Loeffler, M. (DE)
Büttner, R. (DE)
Vodičková, Ludmila (UEM-P) RID
Novotný, J. (CZ)
Demir, K. (DE)
Cruciat, C. M. (DE)
Renneberg, R. (DE)
Huber, W. (DE)
Niehrs, C. (DE)
Boutros, M. (DE)
Propping, P. (DE)
Vodička, Pavel (UEM-P) RID
Hemminki, K. (DE)
Försti, A. (DE)Source Title International Journal of Molecular Epidemiology and Genetics - ISSN 1948-1756
Roč. 2, č. 1 (2011), s. 36-50Number of pages 15 s. Language eng - English Country US - United States Keywords colorectal cancer ; case-control study ; selective pressure Subject RIV EB - Genetics ; Molecular Biology CEZ AV0Z50390512 - UEM-P (2005-2011) EID SCOPUS 79251574403 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. 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). The associations were less prominent in the family/early onset-based German cohort. Data derived from several databases and statistical tests Workplace Institute of Experimental Medicine Contact Lenka Koželská, lenka.kozelska@iem.cas.cz, Tel.: 241 062 218, 296 442 218 Year of Publishing 2012
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