Carcinogenesis Advance Access published online on April 21, 2007
Carcinogenesis, doi:10.1093/carcin/bgm098
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ASSOCIATION OF THE ARLTS1 CYS148ARG VARIANT WITH SPORADIC AND FAMILIAL COLORECTAL CANCER
1 Department of Gastroenterology, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, CIBER-EHD, IDIBAPS, Barcelona, Catalonia, Spain
2 Gene and Disease Program. Centre for Genomic Regulation-UPF, Barcelona, Catalonia, Spain
3 Grupo de Medicina Xenomica-USC, Fundacion Publica Galega de Medicina Xenomica-CHUS, Santiago de Compostela, Galicia, Spain
4 Department of Gastroenterology, Hospital del Mar, Barcelona, Catalonia, Spain
5 Department of Gastroenterology, Hospital Universitari Germans Trias i Pujol, Badalona, Catalonia, Spain
6 Department of Gastroenterology, Hospital General Universitario de Alicante, Alicante, Spain
7 Department of Pathology, Hospital General Universitario de Alicante, Alicante, Spain
* To whom correspondence should be addressed at: Department of Gastroenterology, Hospital Clínic, Villarroel 170, 08036 Barcelona, Catalonia, Spain. Phone number: +34 93 227 54 18; Fax number: +34 93 227 93 87; e-mail: sbel{at}clinic.ub.es.
ARLTS1 was recently identified in chromosome 13q14 as a tumor suppressor gene of the ADP-ribosylation factor family with pro-apoptotic characteristics. Additionally, one of its genetic variants (W149X) was hypothesized to be a polymorphism associated with familial cancer. We performed a large case-control association study within the EPICOLON project aimed at evaluating the sporadic and familial CRC risk associated with ARLTS1 genetic variants. Whereas P131L and W149X did not seem to affect CRC risk, C148R did show, for the first time in CRC, statistically significant differences between cases and controls (OR=1.45, 95%CI=1.13-1.86, p=0.003), sporadic cases and controls (OR=1.59, 95%CI=1.13-2.23, p=0.007), and familial cases and controls (OR=1.55, 95%CI=1.10-2.19, p=0.01) in agreement with a hypothetical moderate increase of the cancer risk linked to the C148R ARLTS1 variant both in sporadic and familial CRC cases.
Key Words: colorectal cancer • ARLTS1 • polymorphism • association study
8 All authors are listed in the Appendix.
Current address: Digestive Disease and Nutrition Department, University of Illinois at Chicago (UIC), Chicago, IL, USA
Received February 28, 2007; revised March 28, 2007; accepted April 11, 2007.