ARLTS1基因Cys148Arg变异与散发性及家族性结直肠癌的关联
Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer.
作者信息
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
机构信息
Department of Gastroenterology, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, CIBER-EHD, IDIBAPS, Villarroel 170, 08036 Barcelona, Catalonia, Spain.
出版信息
Carcinogenesis. 2007 Aug;28(8):1687-91. doi: 10.1093/carcin/bgm098. Epub 2007 Apr 21.
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.
ARLTS1最近在13号染色体q14区域被鉴定为ADP核糖基化因子家族的一个具有促凋亡特征的肿瘤抑制基因。此外，其一个基因变异体（W149X）被推测为与家族性癌症相关的多态性。我们在EPICOLON项目中开展了一项大型病例对照关联研究，旨在评估与ARLTS1基因变异相关的散发性和家族性结直肠癌（CRC）风险。虽然P131L和W149X似乎不影响CRC风险，但C148R在CRC中首次显示出病例组和对照组之间具有统计学显著差异[比值比（OR）=1.45，95%置信区间（95%CI）=1.13 - 1.86，P = 0.003]，散发性病例和对照组（OR = 1.59，95%CI = 1.13 - 2.23，P = 0.007）以及家族性病例和对照组（OR = 1.55，95%CI = 1.10 - 2.19，P = 0.01），这与在散发性和家族性CRC病例中，C148R ARLTS1变异体导致癌症风险适度增加的假设一致。
Zotero 插件