Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications

0367867 - ÚEM 2012 RIV US eng J - Journal Article
Huhn, S. - Ingelfinger, D. - Bermejo, J. L. - Bevier, M. - Pardini, Barbara - Naccarati, Alessio - Steinke, V. - Rahner, N. - Holinski-Feder, E. - Morak, M. - Schackert, H. K. - Görgens, H. - Pox, C. P. - Goecke, T. - Kloor, M. - Loeffler, M. - Büttner, R. - Vodičková, Ludmila - Novotný, J. - Demir, K. - Cruciat, C. M. - Renneberg, R. - Huber, W. - Niehrs, C. - Boutros, M. - Propping, P. - Vodička, Pavel - Hemminki, K. - Försti, A.
Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications.
International Journal of Molecular Epidemiology and Genetics. Roč. 2, č. 1 (2011), s. 36-50. ISSN 1948-1756
Institutional research plan: CEZ:AV0Z50390512
Keywords : colorectal cancer * case-control study * selective pressure
Subject RIV: EB - Genetics ; Molecular Biology

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
Permanent Link: http://hdl.handle.net/11104/0202391