Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer

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–c...

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Bibliographic Details
Published in:Carcinogenesis (New York) 2007-08, Vol.28 (8), p.1687-1691
Main Authors: Castellví-Bel, Sergi, Castells, Antoni, de Cid, Rafael, Muñoz, Jenifer, Balaguer, Francesc, Gonzalo, Victoria, Ruiz-Ponte, Clara, Andreu, Montserrat, Llor, Xavier, Jover, Rodrigo, Bessa, Xavier, Xicola, Rosa M., Pons, Elisenda, Alenda, Cristina, Payá, Artemio, Carracedo, Angel, Piqué, Josep M.
Format: Article
Language:English
Subjects:
ADP-Ribosylation Factors - genetics
Amino Acid Substitution - genetics
Arginine - genetics
Base Sequence
Case-Control Studies
Colorectal cancer
Colorectal Neoplasms - epidemiology
Colorectal Neoplasms - genetics
Cysteine - genetics
Genetic Predisposition to Disease
Genetic Variation
Humans
Incidence
Middle Aged
Molecular Sequence Data
Risk Factors
Spain - epidemiology
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Summary: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 colorectal cancer (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 [odds ratio (OR) = 1.45, 95% confidence interval (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.
ISSN:0143-3334
1460-2180
DOI:10.1093/carcin/bgm098