亚甲基四氢叶酸还原酶基因多态性与原因不明复发性流产的关系  

Relationship between methylene tetrahydrofolate reductase gene polymorphism and unexplained recurrent spontaneous abortion

作　　者：宫艳艳[1] 王莉[1] 陈苗[1] 迟洁[1] GONG Yanyan;WANG Li;CHEN Miao;CHI Jie(Department of Clinical Laboratory,Shaanxi Provincial People′s Hospital,Xi′an 710068,Shaanxi Province,China)

机构地区：[1]陕西省人民医院检验科,陕西西安710068

出　　处：《新乡医学院学报》2022年第12期1134-1138,共5页Journal of Xinxiang Medical University

基　　金：陕西省重点研发计划基金项目(编号:2020SF-050)。

摘　　要：目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性与原因不明复发性流产(URSA)的关系。方法选择2017年1月至2020年1月陕西省人民医院收治的125例URSA患者为URSA组,另选择同期行孕前检查的123例健康非妊娠妇女为对照组。采用聚合酶链式反应(PCR)法检测MTHFR基因C677T位点、A1298C位点基因型,采用酶联免疫吸附测定法检测MTHFR酶活性及血浆同型半胱氨酸(HCY)水平。采用logistic回归分析MTHFR基因C677T位点、A1298C位点基因型与URSA患病风险的关系。结果URSA组患者的MTHFR酶活性显著低于对照组,血浆HCY水平显著高于对照组(P<0.05)。2组受试者MTHFR基因C677T位点均存在TT、CT、CC 3种基因型及C、T 2种等位基因;与对照组比较,URSA组受试者MTHFR C677T位点TT基因型频率、T等位基因频率显著升高,CT基因型频率、C等位基因频率显著降低(P<0.05);2组受试者MTHFR C677T位点CC基因型频率比较差异无统计学意义(P>0.05)。2组受试者MTHFR基因A1298C位点均存在CC、AC、AA 3种基因型及C、T 2种等位基因;2组受试者的MTHFR基因A1298C位点的CC、AC、AA基因型频率及C、A等位基因频率比较差异均无统计学意义(P>0.05)。MTHFR基因C677T位点TT基因型携带者发生URSA的风险显著高于CC基因型携带者;MTHFR基因C677T位点CT基因型与CC基因型携带者的URSA发生风险比较差异无统计学意义(P>0.05)。MTHFR基因A1298C位点CC、AC、AA基因型携带者的URSA发生风险比较差异无统计学意义(P>0.05)。结论MTHFR基因A1298C位点多态性与URSA无关,MTHFR基因C677T位点多态性与URSA的发生存在关联;MTHFR基因C677T位点TT基因型携带者具有较高的URSA发生风险,可能与降低MTHFR酶活性导致机体叶酸代谢障碍、HCY水平升高有关。Objective To investigate the relationship between methylene tetrahydrofolate reductase(MTHFR)gene polymorphism and unexplained recurrent spontaneous abortion(URSA).Methods A total of 125 URSA patients admitted to Shaanxi Provincial People′s Hospital from January 2017 to January 2020 were selected as URSA group,and 123 healthy non-pregnant women who underwent pre-pregnancy examination in the same period were selected as the control group.The genotypes of MTHFR gene C677T and A1298C locus were detected by polymerase chain reaction(PCR)method,and the enzyme activity of MTHFR and the level of plasma homocysteine(HCY)were detected by enzyme-linked immunosorbent assay.The relationship between MTHFR gene C677T locus,A1298C locus genotype and the risk of URSA was analyzed by logistic regression.Results The enzyme activity of MTHFR of subjects in the URSA group was significantly lower than that in the control group,and the plasma HCY level was significantly higher than that in the control group(P<0.05).The MTHFR gene C677T locus of subjects in both groups had three genotypes of TT,CT and CC,and two alleles of C and T;compared with the control group,the frequency of TT genotype and T allele of MTHFR gene C677T locus of subjects in the URSA group were significantly higher,and the frequency of CT genotype and C allela were significantly lower(P<0.05);there was no significant difference in the frequency of CC genotype of subjects between the two groups(P>0.05).The MTHFR gene A1298C locus of subjects in both groups had three genotypes of CC,AC,AA and two alleles of C and T;there was no significant difference in CC,AC,AA genotype frequency and C,A allele frequency of MTHFR gene A1298C locus of subjects between the two groups(P>0.05).The risk of URSA in carriers with MTHFR gene C677T locus TT genotype was significantly higher than that in CC genotype carriers;there was no significant difference in the risk of URSA between CT genotype and CC genotype of MTHFR gene C677T locus carriers(P>0.05).There was no significant difference

关 键 词：原因不明复发性流产 亚甲基四氢叶酸还原酶 同型半胱氨酸 基因多态性 

分 类 号：R715.5[医药卫生—妇产科学]