title: Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer.
abstract: 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.
authors: Department of Gastroenterology, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, CIBER-EHD, IDIBAPS, Villarroel 170, 08036 Barcelona, Catalonia, Spain. sbel@clinic.ub.es
authors: Sergi
authors: S
authors: Castellví-Bel
authors: Antoni
authors: A
authors: Castells
authors: Rafael
authors: R
authors: de Cid
authors: Jenifer
authors: J
authors: Muñoz
authors: Francesc
authors: F
authors: Balaguer
authors: Victoria
authors: V
authors: Gonzalo
authors: Clara
authors: C
authors: Ruiz-Ponte
authors: Montserrat
authors: M
authors: Andreu
authors: Xavier
authors: X
authors: Llor
authors: Rodrigo
authors: R
authors: Jover
authors: Xavier
authors: X
authors: Bessa
authors: Rosa M
authors: RM
authors: Xicola
authors: Elisenda
authors: E
authors: Pons
authors: Cristina
authors: C
authors: Alenda
authors: Artemio
authors: A
authors: Payá
authors: Angel
authors: A
authors: Carracedo
authors: Josep M
authors: JM
authors: Piqué
mesh_terms: D020727:ADP-Ribosylation Factors / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D015994:Incidence; D008875:Middle Aged; D008969:Molecular Sequence Data; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology
chemical_list: D001120:Arginine; D020727:ADP-Ribosylation Factors; C500039:ARL11 protein, human; D003545:Cysteine