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目的探讨食管鳞状细胞癌患者C20orf54基因rs13042395位点单核苷酸多态性(SNP)与基因启动子甲基化及其蛋白表达之间的关系。方法收集40例食管鳞状细胞癌患者癌组织及配对癌旁组织,利用亚硫酸氢盐PCR测序法(Bisulfite genomie sequencing PCR,BSP)检测组织中C20orf54基因甲基化水平,免疫组织化学法检测蛋白表达水平;同时收集上述40例患者及40例健康对照人群静脉血,运用基质辅助激光解析电离时间飞行质谱(MALDI-TOF-MS)技术检测C20orf54单核苷酸多态性。结果 C20orf54基因启动子区12个CpG位点中7个呈现出甲基化改变,甲基化率为58.33%。食管癌组织C20orf54蛋白低表达组甲基化阳性率明显升高,差异有统计学意义(P<0.05)。C20orf54基因rs13042395位点C/T多肽中CC、CT、TT基因型及等位基因在食管癌和对照人群中分布差异无统计学意义(P>0.05)。食管癌患者C20orf54基因rs13042395位点携带C等位基因的CC基因型患者甲基化水平(69.6%)明显高于携带T等位基因的CT/TT基因型(35.3%),差异有统计学意义(P<0.05)。CC基因型患者C20orf54蛋白表达水平低于CT/TT基因型患者,但差异无统计学意义(P>0.05)。结论食管鳞状细胞癌患者中C20orf54基因启动子区甲基化水平明显升高,rs13042395位点SNP与基因甲基化有相关性,携带C等位基因可能是食管癌患者C20orf54基因发生甲基化的危险因素。
Objective To investigate the relationship between single nucleotide polymorphism (SNP) at rs13042395 of C20orf54 gene, methylation of gene promoter and its protein expression in esophageal squamous cell carcinoma patients. Methods Forty cases of esophageal squamous cell carcinoma (SCC) and their adjacent tissues were collected. The methylation level of C20orf54 gene in tissues was detected by bisulfite genomie sequencing PCR (BSP), and the protein was detected by immunohistochemistry The 40 venous blood was collected from 40 patients and 40 healthy controls at the same time. C20orf54 single nucleotide polymorphism was detected by MALDI-TOF-MS. Results Seven of the 12 CpG sites in the C20orf54 gene promoter showed a methylation change with a methylation rate of 58.33%. The positive rate of methylation of C20orf54 protein in esophageal cancer tissues was significantly higher (P <0.05). There were no significant differences in the distribution of CC, CT, TT genotypes and alleles between C20orf54 gene rs13042395 C / T and esophageal cancer in control group (P> 0.05). The methylation level of CC genotypes with C allele at rs13042395 in esophageal cancer patients (69.6%) was significantly higher than that of CT / TT genotypes carrying T allele (35.3%), the difference was statistically significant (P <0.05). The level of C20orf54 protein in CC genotype was lower than that in CT / TT genotype, but the difference was not statistically significant (P> 0.05). Conclusions The methylation level of C20orf54 gene promoter in esophageal squamous cell carcinoma patients was significantly increased. SNP rs13042395 was associated with gene methylation. The C allele may be the methylation of C20orf54 gene in esophageal cancer patients Risk factors.