Abstract：
Gastric carcinoma (GC) has received extensive attention due to its complex pathogenesis. Studies have shown that the expression of Trefoil factor 1 (TFF1) and Partner and localiser of BRCA2 (PALB2) genes promotes the occurrence of GC. Therefore, we investigated whether TFF1 and PALB2 gene polymorphisms are associated with GC risk in the Chinese Han population.
A total of 509 GC cases and 505 controls were recruited, and single nucleotide polymorphisms (SNPs) of TFF1 and PALB2 in these subjects were genotyped. The association between each candidate polymorphism and GC risk was assessed by calculating odds ratios (ORs) and 95% confidence intervals (CIs). The visualization of gene-gene interactions and functional enrichment analysis were then performed using Cytoscape software and the R package \"cluster profile\".
The TFF1 rs2156310 polymorphism significantly reduced the predisposition to GC in people under 60 years of age (AA vs. AG - GG, OR = 0.58, 95% CI = 0.35-0.97, p = 0.036). The gender-stratified analysis found that PALB2 rs513313 was significantly associated with the risk of GC in males (CT vs. TT, OR = 1.51, 95% CI = 1.06-2.15, p = 0.022). Besides, PALB2 rs249954 significantly reduced the susceptibility to GC in females (AA vs GG, OR = 0.42, 95% CI = 0.19-0.94, p = 0.034).
Our results revealed that TFF1 and PALB2 gene polymorphisms were correlated with the genetic susceptibility to GC, providing certain data support for researchers to further study the mechanism of GC.
A total of 509 GC cases and 505 controls were recruited, and single nucleotide polymorphisms (SNPs) of TFF1 and PALB2 in these subjects were genotyped. The association between each candidate polymorphism and GC risk was assessed by calculating odds ratios (ORs) and 95% confidence intervals (CIs). The visualization of gene-gene interactions and functional enrichment analysis were then performed using Cytoscape software and the R package \"cluster profile\".
The TFF1 rs2156310 polymorphism significantly reduced the predisposition to GC in people under 60 years of age (AA vs. AG - GG, OR = 0.58, 95% CI = 0.35-0.97, p = 0.036). The gender-stratified analysis found that PALB2 rs513313 was significantly associated with the risk of GC in males (CT vs. TT, OR = 1.51, 95% CI = 1.06-2.15, p = 0.022). Besides, PALB2 rs249954 significantly reduced the susceptibility to GC in females (AA vs GG, OR = 0.42, 95% CI = 0.19-0.94, p = 0.034).
Our results revealed that TFF1 and PALB2 gene polymorphisms were correlated with the genetic susceptibility to GC, providing certain data support for researchers to further study the mechanism of GC.
摘要：
目的：胃癌因其复杂的发病机制而受到广泛关注。研究表明，三叶因子1（TFF1）和BRCA2（PALB2）基因的伴侣和定位因子的表达促进了GC的发生。因此,我们调查了TFF1和PALB2基因多态性是否与中国汉族人群的GC风险相关。
方法：共招募509例GC病例和505例对照，对这些受试者的TFF1和PALB2的单核苷酸多态性（SNP）进行了基因分型。通过计算比值比（OR）和95％置信区间（CI）评估每个候选多态性与GC风险之间的关联。然后使用Cytoscape软件和R包“簇谱”进行基因-基因相互作用的可视化和功能富集分析。
结果：TFF1rs2156310多态性显着降低了60岁以下人群对GC的易感性（AA与AG-GG,OR=0.58，95%CI=0.35-0.97，p=0.036）。性别分层分析发现，PALB2rs513313与男性GC风险显著相关(CT与TT,OR=1.51，95%CI=1.06-2.15，p=0.022）。此外,PALB2rs249954显着降低了女性对GC的易感性（AAvsGG，OR=0.42，95%CI=0.19-0.94，p=0.034）。
结论：我们的结果表明TFF1和PALB2基因多态性与GC的遗传易感性相关。为研究者进一步研究GC的作用机制提供了一定的数据支持。
方法：共招募509例GC病例和505例对照，对这些受试者的TFF1和PALB2的单核苷酸多态性（SNP）进行了基因分型。通过计算比值比（OR）和95％置信区间（CI）评估每个候选多态性与GC风险之间的关联。然后使用Cytoscape软件和R包“簇谱”进行基因-基因相互作用的可视化和功能富集分析。
结果：TFF1rs2156310多态性显着降低了60岁以下人群对GC的易感性（AA与AG-GG,OR=0.58，95%CI=0.35-0.97，p=0.036）。性别分层分析发现，PALB2rs513313与男性GC风险显著相关(CT与TT,OR=1.51，95%CI=1.06-2.15，p=0.022）。此外,PALB2rs249954显着降低了女性对GC的易感性（AAvsGG，OR=0.42，95%CI=0.19-0.94，p=0.034）。
结论：我们的结果表明TFF1和PALB2基因多态性与GC的遗传易感性相关。为研究者进一步研究GC的作用机制提供了一定的数据支持。
