陕西地区静脉血栓栓塞症患者MTHFR和MTRR基因多态性分析以及对临床诊疗的指导意义  

Polymorphism Analysis of MTHFR and MTRR Genes in Patients with Venous Thromboembolism in Shaanxi Province and Its Clinical Significance

作　　者：张李婷 马文兵[1,2] 关栋 邓祥[1] ZHANG Li-ting;MA Wen-bing;GUAN Dong(Department of Pharmacology,the First Affliated Hospital of Xi'an Jiaotong University,Xi’an710061,China)

机构地区：[1]西安交通大学第一附属医院药学部,陕西西安710061 [2]西安交通大学生命科学与技术学院,陕西西安710049

出　　处：《中国实验诊断学》2022年第10期1448-1453,共6页Chinese Journal of Laboratory Diagnosis

基　　金：陕西省自然科学基金一般项目-社会发展领域(2021SF-130);西安交通大学第一附属医院院基金(2020ZYTS-08)。

摘　　要：目的探讨陕西地区静脉血栓栓塞症患者MTHFR和MTRR基因多态性分布情况。方法选取西安交通大学第一附属医院静脉血栓栓塞症治疗患者439例,检测MTHFR和MTRR的基因型,统计基因型及等位基因分布特征,并对比国内外其他地区基因型及等位基因分布差异。结果MTHFR和MTRR基因型分布CT、TT、CC;AA、AG、GG,分别占患者总数的48.06%、30.07%、21.87%;67.43%、28.93%、3.64%。MTHFR CC及TT等位基因频率分别为45.90%和54.10%;MTRR AA和GG等位基因频率分别为81.89%和18.11%;不同性别、年龄段患者MTHFR和MTRR基因型及等位基因分布差异均无统计学意义;不同国家MTHFR基因型及等位基因分布差异均具有统计学意义,我国不同地区汉族人群MTHFR基因型及等位基因分布差异有统计学意义。结论陕西地区静脉血栓栓塞症患者MTHFR和MTRR基因型主要以CT、AA为主,等位基因以T和A为主,通过检测MTHFR和MTRR基因多态性对高同型半胱氨酸血症患者补充叶酸,降低其VTE发生风险也具有一定的指导意义。Objective To investigate the polymorphism distribution of MTHFR and MTRR genes in patients with venous thromboembolism in Shaanxi.Methods The genotype of MTHFR and MTRR was detected in 439patients with venous thromboembolism treated in our hospital.The distribution characteristics of alleles and metabolic phenotypes were analyzed,and the differences of alleles and metabolic phenotypes between Han and other nationalities in different regions were compared.Results MTHFR and MTRR genotypes were distributed CT,TT,CC;AA,AG,GG,accounting for 48.06%,30.07%,21.87%;67.43%,28.93%,3.64%of the patients,respectively.MTHFR CC and TT allele frequencies were 45.90%and 54.10%,respectively;The frequencies of MTRR AA and GG allele were 81.89%and18.11%,respectively;The differences in MTHFR and MTRR genotype and allele distribution among patients of different sexes and ages were not statistically significant;The differences in MTHFR genotype and allele distribution among different countries were statistically significant,and the differences in MTHFR genotype and allele distribution among Han Chinese population in different regions of China were statistically significant.Conclusion The MTHFR and MTRR genotypes of venous thromboembolism patients in Shaanxi Province are mainly CT and AA,and the alleles are mainly T and A.the detection of MTHFR and MTRR gene polymorphisms has certain guiding significance to supplement folic acid to patients with hyperhomocysteinemia and reduce the risk of VTE.

关 键 词：陕西地区 静脉血栓栓塞症 MTHFR和MTRR 高同型半胱氨酸血症 

分 类 号：R654.4[医药卫生—外科学]