Ji Hong-Bo, Wang Le-Le, Wang Xiao-Ying, Yin Sheng-Jie, Shang Di, Sun Li-Li, Wang Lei
Department of Medical Oncology in Section One, Chifeng Municipal Hospital , Chifeng, China .
Genet Test Mol Biomarkers. 2017 May;21(5):305-311. doi: 10.1089/gtmb.2016.0194. Epub 2017 Mar 13.
This case-control study investigated the association of single nucleotide polymorphisms in the PTPN1 gene with susceptibility to esophageal squamous cell carcinoma (ESCC) in Inner Mongolia, China.
A total of 302 patients living in Inner Mongolia China who were pathologically diagnosed with ESCC between April 2012 and 2016 were selected for the ESCC group; 373 healthy individuals were selected for the control group. The rs2904268 C>G, rs2230605 A>G, and rs16995309 C>T polymorphisms in the PTPN1 gene were detected by bidirectional polymerase chain reaction amplification of specific alleles. The haplotype frequencies were analyzed by SHEsis software. Binary logistic regression analysis was conducted to analyze risk factors associated with ESCC.
Statistical differences between the ESCC and control groups were observed for history of smoking, drinking, and poor eating habits (all p < 0.05). Both the rs2904268 C>G CG and GG genotype frequencies were markedly higher in the ESCC group relative to the control group (both p < 0.05). However, the genotype frequencies of rs2230605 A>G and rs16995309 C>T were similar between the ESCC and control groups (all p > 0.05). Compared with the control group, the ESCC group had notably elevated frequencies of the GGC and GAT haplotypes and significantly reduced frequencies of CGC and GGT haplotypes (all p < 0.05). A history of smoking, drinking, poor eating habits, the rs2904268 C>G CG+GG genotypes, and the GAT haplotype were all identified as risk factors for ESCC (all p < 0.05).
These results indicated that the PTPN1 gene polymorphism rs2904268 is associated with susceptibility to ESCC in Inner Mongolia.
本病例对照研究调查了中国内蒙古地区PTPN1基因单核苷酸多态性与食管鳞状细胞癌（ESCC）易感性之间的关联。
选取2012年4月至2016年间在中国内蒙古地区经病理诊断为ESCC的302例患者作为ESCC组；选取373名健康个体作为对照组。通过特异性等位基因双向聚合酶链反应扩增检测PTPN1基因中的rs2904268 C>G、rs2230605 A>G和rs16995309 C>T多态性。采用SHEsis软件分析单倍型频率。进行二元逻辑回归分析以分析与ESCC相关的危险因素。
ESCC组和对照组在吸烟史、饮酒史和不良饮食习惯方面存在统计学差异（均p<0.05）。ESCC组中rs2904268 C>G的CG和GG基因型频率均显著高于对照组（均p<0.05）。然而，ESCC组和对照组之间rs2230605 A>G和rs16995309 C>T的基因型频率相似（均p>0.05）。与对照组相比，ESCC组中GGC和GAT单倍型频率显著升高，CGC和GGT单倍型频率显著降低（均p<0.05）。吸烟史、饮酒史、不良饮食习惯、rs2904268 C>G的CG+GG基因型和GAT单倍型均被确定为ESCC的危险因素（均p<0.05）。
这些结果表明，PTPN1基因多态性rs2904268与内蒙古地区ESCC的易感性相关。
