Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in Czech Republic

0314441 - ÚEM 2010 RIV US eng J - Journal Article
Poláková, Veronika - Pardini, Barbara - Naccarati, Alessio - Landi, S. - Slyšková, Jana - Novotný, J. - Vodičková, Ludmila - Bermejo, J.L. - Hánová, Monika - Šmerhovský, Z. - Tulupová, Elena - Kumar, R. - Hemminki, K. - Vodička, Pavel
Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in Czech Republic.
Human Mutation. Roč. 30, č. 4 (2009), s. 661-668. ISSN 1059-7794. E-ISSN 1098-1004
R&D Projects: GA ČR GA310/07/1430
Grant - others:GA UK(CZ) GAUK 96908/8/2008
Institutional research plan: CEZ:AV0Z50390703; CEZ:AV0Z50390512
Keywords : TP53 * CDKN1A * genetic polymorphisms
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 6.887, year: 2009

To assess the role of genetic variants on the disease, we genotyped polymorphisms in the TP53 (rs17878362:A1>A2, rs1042522:G>C, rs12947788:C>T, and rs17884306:G>A), CDKN1A (rs1801270:C>A and rs1059234:C>T), and CDKN2A (rs3731249:G>A, rs11515:C>G, and rs3088440:C>T) genes in 614 hospital-based colorectal cancer cases and 614 matched controls from the country. The two most common haplotypes, A1GCG and A2CCG were present in 81% of the cases compared to 71% of the controls. In comparison to the most common haplotype (A1GCG), the haplotype A2CCG was associated with an increased risk (odds ratio OR 1.40, 95% confidence interval CI 1.07-1.82), while the four other haplotypes A1CCG (OR 0.60 95% CI 0.45-0.79), A2GCG (OR 0.53 95% CI 0.35-0.81), A1GTG (OR 0.31 95% CI 0.15-0.64), and A1GCA (OR 0.19 95% CI 0.07-0.51) were associated with a decreased risk. No association with the disease was observed with haplotypes of the CDKN1A and CDKN2A polymorphisms.
Permanent Link: http://hdl.handle.net/11104/0164950