MTHFR基因不同位点突变与维吾尔族肺癌患者生存期相关性研究

Study on the correltaion between different multi-site mutations in MTHFR gene and the survival time of Uygur patients with lung cancer

目的:探究5,10-亚甲基四氢叶酸还原酶(MTHFR)在维吾尔族肺癌患者中的表达量和MTHFR基因677C/T、1298A/C多态性分布对维吾尔族肺癌患者进程的影响。方法:前瞻性研究。选取2018年9月至2020年9月在新疆喀什地区第一人民医院收治的维吾尔族肺癌患者50例为试验组,选取同期在该院体检的健康维吾尔族者50名为对照组。采用限制性片段长度多态性酶切技术检测实验组和对照组群体内MTHFR基因677C/T和1298A/C多态性分布。通过TCGA数据库分析肺癌患者组织中MTHFR的表达量,以及MTHFR的表达量对患者的生存预后的影响。结果:TCGA数据库显示在830例肺腺癌样本中MTHFR在癌组织中高表达,在824例肺鳞状细胞癌样本中MTHFR也显著高表达。试验组中MTHFR 677CC基因型频率为26.0%,677CT基因型频率为42.0%,677TT基因型频率为32.0%;对照组中MTHFR 677CC基因型频率为68.0%,677CT基因型频率为20.0%,677TT基因型频率为12.0%,组间比较差异均有统计学意义(P值均<0.05)。试验组中MTHFR 1298AA基因型频率为30.0%,1298AC基因型频率为38.0%,1298CC基因型频率为32.0%;对照组中MTHFR 1298AA基因型频率为64.0%,1298AC基因型频率为22.0%,1298CC基因型频率为14.0%,组间比较差异均有统计学意义(P值均<0.05)。结论:TCGA数据库显示,肺腺癌样本和肺鳞状细胞癌样本中MTHFR均较癌旁组织高表达。维吾尔族肺癌患者中MTHFR 677C/T和1298A/C位点多态性可能与肺癌的发生有关,MTHFR是肺癌进展中的促进因子。

Objective To explore the effect of 5,10-methylenetetrahydrofolate reductase(MTHFR)expression in Uygur lung cancer patients and the distribution of MTHFR gene 677C/T and 1298A/C polymorphisms on the progression of lung cancer.Methods Retrospective research.There were 50 Uygur lung cancer patients who were admitted to the First People′s Hospital of Kashgar from September 2018 to September 2020 selected as the experimental group,and 50 healthy Uygur patients who received physical examination in the hospital during the same period selected as the control group.Restriction fragment length polymorphism enzyme digestion technology was used to detect the distribution of the 677C/T and 1298A/C polymorphisms of the MTHFR gene in the experimental group and the control group.The TCGA database was used to analyze the expression of MTHFR in the tissues of lung cancer patients,and the effect of MTHFR expression on the survival and prognosis of patients.Results The TCGA database showed that MTHFR was highly expressed in cancer tissues in 830 lung adenocarcinoma samples,and MTHFR was also significantly highly expressed in 824 lung squamous cell carcinoma samples.Among the Uygur lung cancer patients included in the study,the MTHFR 677CC genotype frequency in the experimental group was 26.0%,the 677CT genotype frequency was 42.0%,and the 677TT genotype frequency was 32.0%;In the control group,the frequency of MTHFR 677CC genotype was 68.0%,the frequency of 677CT genotype was 20.0%,and the frequency of 677TT genotype was 12.0%,the difference among groups was statistically significant(all P<0.05).In the experimental group,the frequency of MTHFR 1298AA genotype was 30.0%,the frequency of 1298AC genotype was 38.0%,and the frequency of 1298CC genotype was 32.0%;in the control group,the frequency of MTHFR 1298AA genotype was 64.0%,the frequency of 1298AC genotype was 22.0%,and the frequency of 1298CC genotype was 14.0%,and the difference among groups was statistically significant(all P<0.05).Conclusions The TCGA database shows that MTHFR is more highly expressed in lung adenocarcinoma samples and lung squamous cell carcinoma samples than in adjacent tissues.MTHFR 677C/T and 1298A/C polymorphisms in Uygur lung cancer patients may be related to the occurrence of lung cancer.MTHFR is the promoter of lung cancer.