Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, Department of Medical Genome Sciences, Graduate School of Frontier Scineces, the University of Tokyo, National Cancer Center Hospital, Tokyo, Japan.
PLoS One. 2010 Jul 29;5(7):e11824. doi: 10.1371/journal.pone.0011824.
Pancreatic cancer shows very poor prognosis and is the fifth leading cause of cancer death in Japan. Previous studies indicated some genetic factors contributing to the development and progression of pancreatic cancer; however, there are limited reports for common genetic variants to be associated with this disease, especially in the Asian population. We have conducted a genome-wide association study (GWAS) using 991 invasive pancreatic ductal adenocarcinoma cases and 5,209 controls, and identified three loci showing significant association (P-value<5x10(-7)) with susceptibility to pancreatic cancer. The SNPs that showed significant association carried estimated odds ratios of 1.29, 1.32, and 3.73 with 95% confidence intervals of 1.17-1.43, 1.19-1.47, and 2.24-6.21; P-value of 3.30x10(-7), 3.30x10(-7), and 4.41x10(-7); located on chromosomes 6p25.3, 12p11.21 and 7q36.2, respectively. These associated SNPs are located within linkage disequilibrium blocks containing genes that have been implicated some roles in the oncogenesis of pancreatic cancer.
胰腺癌预后极差，是日本第五大癌症死因。先前的研究表明，一些遗传因素与胰腺癌的发生和发展有关；然而，很少有报道表明常见的遗传变异与这种疾病有关，特别是在亚洲人群中。我们使用 991 例侵袭性胰腺导管腺癌病例和 5209 例对照进行了全基因组关联研究（GWAS），并确定了三个与胰腺癌易感性显著相关的位点（P 值<5x10(-7))。显示显著关联的 SNPs 携带的估计比值比为 1.29、1.32 和 3.73，95%置信区间为 1.17-1.43、1.19-1.47 和 2.24-6.21；P 值分别为 3.30x10(-7)、3.30x10(-7) 和 4.41x10(-7)；位于染色体 6p25.3、12p11.21 和 7q36.2 上。这些相关的 SNPs 位于包含已被证明在胰腺癌发生中具有某些作用的基因的连锁不平衡块内。
