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-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.
Castellví-Bel
Sergi
S
Department of Gastroenterology, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, CIBER-EHD, IDIBAPS, Villarroel 170, 08036 Barcelona, Catalonia, Spain. sbel@clinic.ub.es
Castells
Antoni
A
de Cid
Rafael
R
Muñoz
Jenifer
J
Balaguer
Francesc
F
Gonzalo
Victoria
V
Ruiz-Ponte
Clara
C
Andreu
Montserrat
M
Llor
Xavier
X
Jover
Rodrigo
R
Bessa
Xavier
X
Xicola
Rosa M
RM
Pons
Elisenda
E
Alenda
Cristina
C
Payá
Artemio
A
Carracedo
Angel
A
Piqué
Josep M
JM
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
D001120:Arginine; D020727:ADP-Ribosylation Factors; C500039:ARL11 protein, human; D003545:Cysteine