Jalilvand Ahmad, Soltanpour Mohammad Soleiman
Department of Pathology, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
Department of Medical Laboratory Sciences, School of Paramedical Sciences, Zanjan University of Medical Sciences, Zanjan, Iran.
Mol Biol Res Commun. 2019 Jun;8(2):53-58. doi: 10.22099/mbrc.2019.33006.1393.
Colorectal cancer (CRC) is one of the common causes of cancer death in Iranian population. Both genetic and epigenetic changes have been implicated in CRC pathogenesis. gene as one of the WNT signaling pathway inhibitor was shown to display tumor suppressor activity in many cancers. The aim of present study was to investigate the methylation status of gene and its association with methylenetetrahydrofolate reductase () C677T polymorphism in CRC patients. Fifty formalin-fixed paraffin-embedded cancerous and adjacent healthy tissues obtained from CRC patient were investigated. Genomic DNA was isolated using a FFPE commercial DNA extraction kit. The methylation status was evaluated by methylation specific PCR. Genotyping of C677T polymorphism was performed using PCR-RFLP technique. Statistical analysis was done by GraphPad Prism 8. Results indicated that the frequency of methylated gene was significantly higher in cancerous tissue relative to adjacent healthy tissue (P<0.001). gene methylation was significantly more common among carriers of 677CC genotype (P=0.035) and significantly less common among carriers of 677T allele (P value =0.006). In conclusion the present study identified gene methylation as a significant risk factor for CRC development. Moreover, the low frequency of gene methylation among carriers of 677T allele may confer a protective role for this common polymorphism against CRC risk.
结直肠癌（CRC）是伊朗人群癌症死亡的常见原因之一。遗传和表观遗传变化均与CRC发病机制有关。[具体基因名称]基因作为WNT信号通路抑制剂之一，在许多癌症中显示出肿瘤抑制活性。本研究的目的是调查CRC患者中[具体基因名称]基因的甲基化状态及其与亚甲基四氢叶酸还原酶（MTHFR）C677T多态性的关联。对从CRC患者获得的50份福尔马林固定石蜡包埋的癌组织和相邻健康组织进行了研究。使用FFPE商业DNA提取试剂盒分离基因组DNA。通过甲基化特异性PCR评估甲基化状态。使用PCR-RFLP技术对MTHFR C677T多态性进行基因分型。采用GraphPad Prism 8进行统计分析。结果表明，癌组织中甲基化[具体基因名称]基因的频率相对于相邻健康组织显著更高（P<0.001）。[具体基因名称]基因甲基化在677CC基因型携带者中显著更常见（P=0.035），而在677T等位基因携带者中显著更少见（P值=0.006）。总之，本研究确定[具体基因名称]基因甲基化是CRC发生的一个重要危险因素。此外，677T等位基因携带者中[具体基因名称]基因甲基化频率较低可能赋予这种常见多态性对CRC风险的保护作用。
