SERPINC1和MTHFR基因多态性与新疆地区恶性肿瘤患者静脉血栓栓塞症相关性研究

Correlation between SERPINC1 and MTHFR gene polymorphisms and venous thromboembolism in patients with malignant tumors in Xinjiang

目的:探讨SERPINC1和亚甲基四氢叶酸还原酶(MTHFR)基因多态性与新疆地区恶性肿瘤患者静脉血栓栓塞症(VTE)的相关性。方法:选取恶性肿瘤患者227例,根据是否发生VTE将患者分为VTE组(47例)和对照组(180例)。比较两组患者一般资料。观察并比较两组患者SERPINC1基因rs2227589位点和MTHFR基因rs1801133位点的基因多态性,分析与VTE的相关性。结果:VTE组有糖尿病史患者占比高于对照组(P<0.05)。在两组患者SERPINC1 T/C基因型分布频率中,C等位基因频率高于T等位基因频率。在两组患者MTHFR A/G基因分布频率中,G等位基因频率高于A等位基因频率。MTHFR基因A/G基因型和SERPINC1基因T/C基因型的理论例数与实际例数比较差异无统计学意义(均P>0.05),符合Hardy-Weinberg遗传平衡。VTE组和对照组SERPINC1基因rs2227589位点基因型及T基因频率比较差异无统计学意义(均P>0.05)。VTE组和对照组MTHFR基因rs1801133位点基因型比较差异有统计学意义,且VTE组A等位基因频率高于对照组(均P<0.05)。结论:新疆地区恶性肿瘤患者MTHFR基因rs1801133位点基因多态性与VTE有关,等位基因A携带者VTE发生风险较高,且糖尿病史也与VTE有关。

Objective:To investigate the correlation between SERPINC1 and 5,10-methylenetetrahydrofolate reductase(MTHFR)gene polymorphisms and venous thromboembolism(VTE)in patients with malignant tumors in Xinjiang.Methods:A total of 227 patients with malignant tumors were selected,and the patients were divided into VTE group(47 cases)and control group(180 cases)according to whether VTE occurred.The general data of the two groups were compared.The polymorphisms of rs2227589 in SERPINC1 gene and rs1801133 in MTHFR gene were observed and compared between the two groups,and the correlation with VTE was analyzed.Results:The proportion of patients with diabetes mellitus in the VTE group was higher than that in the control group(P<0.05).Among the distribution frequencies of SERPINC1 T/C genotype in the two groups,the frequency of C allele was higher than that of T allele.Among the distribution frequencies of MTHFR A/G genes in the two groups,the frequency of G allele was higher than that of A allele.There was no significant difference between the theoretical and actual cases of A/G genotype of MTHFR gene and T/C genotype of SERPINC1 gene(all P>0.05),which was consistent with Hardy-Weinberg genetic balance.There were no significant differences in genotype of rs2227589 in SERPINC1 gene and T gene frequencies between VTE group and control group(all P>0.05).There was a statistically significant difference in genotype of rs1801133 in MTHFR gene between VTE group and control group,and the frequency of allele A in VTE group was higher than that in control group(all P<0.05).Conclusion:The polymorphism of rs1801133 in MTHFR gene is associated with VTE in malignant tumor patients in Xinjiang.Allele A carriers have a higher risk of VTE,and the history of diabetes is also associated with VTE.