Cheng Xiao-Li, Ning Tao, Xu Chang-Qing, Li Yong, Zhu Bao-Song, Hou Fu-Tao, Zhang Shi-Yun, Chen Zi-Ping
Department of Gastroenterology, Qianfoshan Hospital, Medical College, Shandong University, Jinan City, Shandong Province, China.
Hepatogastroenterology. 2011 Mar-Apr;58(106):432-7.
BACKGROUND/AIMS: To study the effect of cytotoxic T-lymphocyte antigen 4 gene haplotypes to susceptibility of esophageal squamous cell carcinoma.
A gender- and age-matched case-control design was used in this study. PCR-RFLP method was used to detect the genotype of CTLA4 in 205 patients and 205 control individuals in the Anyang area. Furthermore, haplotypes were calculated by PHASE2.1 software. Finally, the conditional logistic regression analysis was carried out to analyze the relevance between the risk of ESCC and the genotypes or haplotypes of CTLA4 gene.
The CTLA4 rs231775 and rs4553808 genotypes in patients with ESCC were significantly different from controls (p=0.004, p=0.023, respectively). The AG and AA genotypes of rs231775 were highly correlated with the risk of ESCC (Adjusted OR=2.280, 95%CI=1.433-3.629, p=0.001; Adjusted OR=2.192, 95%CI=1.229-3.911, p=0.008, respectively), and AG genotype of rs4553808 also increased the susceptibility of ESCC (Adjusted OR=1.848, 95%CI=1.220-2.800, p=0.004). Further study suggested that AAG haplotype may enhance the risk of ESCC (Adjusted OR=5.035, 95%CI=1.599-15.860, p=0.005), but GAA haplotype played a protective role (Adjusted OR=0.413, 95%CI=0.251-0.680, p=0.001).
Our research confirmed that CTLA4 genetic variation was related to ESCC in the Anyang area and GAA haplotype was the protective factor of ESCC.
背景/目的：研究细胞毒性T淋巴细胞相关抗原4（CTLA4）基因单倍型对食管鳞状细胞癌易感性的影响。
本研究采用性别和年龄匹配的病例对照设计。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测安阳地区205例患者和205例对照个体的CTLA4基因型。此外，通过PHASE2.1软件计算单倍型。最后，进行条件逻辑回归分析，以分析食管鳞状细胞癌风险与CTLA4基因的基因型或单倍型之间的相关性。
食管鳞状细胞癌患者的CTLA4 rs231775和rs4553808基因型与对照组有显著差异（分别为p = 0.004，p = 0.023）。rs231775的AG和AA基因型与食管鳞状细胞癌风险高度相关（校正比值比[OR]=2.280，95%可信区间[CI]=1.433 - 3.629，p = 0.001；校正OR = 2.192，95%CI = 1.229 - 3.911，p = 0.008），rs4553808的AG基因型也增加了食管鳞状细胞癌的易感性（校正OR = 1.848，95%CI = 1.220 - 2.800，p = 0.004）。进一步研究表明，AAG单倍型可能增加食管鳞状细胞癌风险（校正OR = 5.035，95%CI = 1.599 - 15.860，p = 0.005），但GAA单倍型起保护作用（校正OR = 0.413，95%CI = 0.251 - 0.680，p = 0.001）。
我们的研究证实，CTLA4基因变异与安阳地区的食管鳞状细胞癌有关，GAA单倍型是食管鳞状细胞癌的保护因素。
