Vishteh Mohadeseh Naghi, Zeinalian Mehrdad, Kheirollahi Majid, Mamaghani Amirreza Javadi, Zolfaghari Mohammad Ali, Mirzapour Aliyar, Barati Meisam, Seyed Tabaei Seyed Javad
Department of Genetics & Molecular biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Parasitology and Mycology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Int J Prev Med. 2022 Mar 12;13:44. doi: 10.4103/ijpvm.IJPVM_288_20. eCollection 2022.
The promoter methylation and single nucleotide polymorphisms (SNPs) affect the transcription activity of cancer-related genes in several cancers including diffuse gastric cancer (DGC). Here we aimed to evaluate the promoter methylation status and the rs16260 at the promoter region of the CDH1 gene in DGC.
This case-control study was performed of 48 formalin-fixed paraffin-embedded (FFPE) blocks of DGC patients and 41 fresh frozen tissue samples of healthy individuals. Methylation status was evaluated using methylation-specific polymerase chain reaction (PCR) and the rs16260 at the promoter region of the CDH1 gene was assessed using PCR and sequencing method.
The occurrence of methylation at the promoter region of the CDH1 gene in DGC patients was significantly higher than control samples ( < 0.0001). The methylated status was significantly associated with the poor differentiated histological type of DGC ( = 0.0428). The frequency of AC genotype and the A allele in DGC patients was significantly higher than the control subjects ( = 0.006 and 0.003, respectively).
Here we showed that methylation at the CDH1 promoter may contribute to the DGC development, and also the AC genotype was associated with the risk of DGC.
启动子甲基化和单核苷酸多态性（SNP）会影响包括弥漫性胃癌（DGC）在内的多种癌症中癌症相关基因的转录活性。在此，我们旨在评估DGC中CDH1基因启动子区域的甲基化状态以及rs16260。
对48例DGC患者的福尔马林固定石蜡包埋（FFPE）组织块和41例健康个体的新鲜冷冻组织样本进行了这项病例对照研究。使用甲基化特异性聚合酶链反应（PCR）评估甲基化状态，并使用PCR和测序方法评估CDH1基因启动子区域的rs16260。
DGC患者中CDH1基因启动子区域的甲基化发生率显著高于对照样本（<0.0001）。甲基化状态与DGC的低分化组织学类型显著相关（=0.0428）。DGC患者中AC基因型和A等位基因的频率显著高于对照受试者（分别为=0.006和0.003）。
在此我们表明，CDH1启动子的甲基化可能促成DGC的发展，并且AC基因型与DGC风险相关。
