Yin Jun, Dong Changqing, Tang Weifeng, Liu Ruiping, Chen Suocheng, Zheng Liang, Gu Haiyong
Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu 212000, P.R. China.
Department of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People's Hospital, Changzhou, Jiangsu 213003, P.R. China.
Mol Clin Oncol. 2017 Dec;7(6):1101-1106. doi: 10.3892/mco.2017.1469. Epub 2017 Oct 23.
The present study was conducted to investigate the association between gastric cardiac adenocarcinoma (GCA) and four functional single-nucleotide polymorphisms (SNPs), including interleukin 18 () rs360719 A>G, IL18 receptor 1 rs13015714 G>T, IL18 receptor accessory protein rs917997 C>T and interleukin 28B rs8099917 T>G variants. A hospital-based case-control study was performed to evaluate the genetic effects of these SNPs. A total of 243 GCA cases and 476 controls were enrolled in this study. A custom-by-design 48-Plex SNPscan™ kit was used to determine the genotypes. When the rs360719 AA homozygote genotype was used as the reference group, the AG genotype was not associated with the risk for GCA; the GG genotype was also not associated with the risk for GCA. In the dominant model, the rs360719 AG/GG variants were not associated with the risk for GCA, compared with the rs360719 AA genotype. In the recessive model, when the rs13015714 AA/AG genotypes were used as the reference group, the GG homozygote genotype was not associated with risk for GCA. No association was observed between rs13015714 G>T, rs917997 C>T and rs8099917 T>G polymorphisms and the risk for GCA. These results demonstrated that the functional polymorphisms rs360719 A>G, rs13015714 G>T, rs917997 C>T and rs8099917 T>G do not contribute to GCA susceptibility. However, as the statistical power of our study was limited, large well-designed studies and further functional investigations are required to confirm our findings.
本研究旨在调查胃贲门腺癌（GCA）与4种功能性单核苷酸多态性（SNP）之间的关联，包括白细胞介素18（IL18）rs360719 A>G、IL18受体1（IL18R1）rs13015714 G>T、IL18受体辅助蛋白（IL18RAP）rs917997 C>T和白细胞介素28B（IL28B）rs8099917 T>G变异。进行了一项基于医院的病例对照研究，以评估这些SNP的遗传效应。本研究共纳入243例GCA病例和476例对照。使用定制的48重SNPscan™试剂盒确定基因型。当将IL18 rs360719 AA纯合子基因型作为参照组时，AG基因型与GCA风险无关；GG基因型也与GCA风险无关。在显性模型中，与IL18 rs360719 AA基因型相比，IL18 rs360719 AG/GG变异与GCA风险无关。在隐性模型中，当将IL18R1 rs13015714 AA/AG基因型作为参照组时，GG纯合子基因型与GCA风险无关。未观察到IL18R1 rs13015714 G>T、IL18RAP rs91799 C>T和IL28B rs8099917 T>G多态性与GCA风险之间存在关联。这些结果表明，功能性多态性IL18 rs360719 A>G、IL18R1 rs13015714 G>T、IL18RAP rs917997 C>T和ILl28B rs8099917 T>G与GCA易感性无关。然而，由于本研究的统计效能有限，需要开展大规模精心设计的研究和进一步的功能研究来证实我们的发现。
