MTHFR基因rs1801131多态性与反复自然流产易感性的相关性  

Analysis on correlation between rs1801131 polymorphism of MTHFR gene and the susceptibility of recurrent spontaneous abortion

作　　者：李彦荣 惠旭东 魏建勋[1] LI Yanrong;HUI Xudong;WEI Jianxun(Department of Obstetrics 1 ward, Yan'an University Affiliated Hospital, Yan'an 716000, Shanxi, China)

机构地区：[1]延安大学附属医院产科一病区,陕西延安716000

出　　处：《西部医学》2021年第5期731-734,共4页Medical Journal of West China

摘　　要：目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因rs1801131多态性与不明原因反复自然性流产(URSA)易感性的相关性。方法选择2017年8月~2019年3月本院收治的不明原因反复自然性流产患者100例为研究组,另选取同期门诊体检正常健康妇女100例为对照组,收集所有受试者一般资料及血液标本,采用DNA PCR测序法检测MTHFR基因rs1801131位点多态性,采用日立7020自动分析仪检测受试者血清同型半胱氨酸(Hcy)水平,采用酶联免疫吸附法(ELISA)检测血清叶酸(FA)水平,采用Logistic回归分析MTHFR基因rs1801131位点多态性与反复自然性流产易感性的关系。结果研究组与对照组年龄、月经周期、BMI、血糖、TG、FA、Hcy水平比较,差异均无统计学意义(P>0.05)。研究组与对照组MTHFR基因rs1801131位点基因型和等位基因型频率符合Hardy-Weinberg平衡。与对照组比较,研究组MTHFR基因rs1801131位点A等位基因、野生型AA基因型频率显著降低,C等位基因、杂合及纯合突变AC+CC基因型频率显著增加(P<0.05)。与MTHFR基因rs1801131位点AA基因型比较,AC+CC基因型FA水平降低、Hcy水平增加(P<0.05)。携带AC+CC基因型、高Hcy水平、低FA水平可增加URSA易感性(OR=1.437,95%CI:1.234~1.673,P=0.012;OR=1.257,95%CI:1.112~1.421,P=0.035;OR=1.175,95%CI:1.620~2.920,P<0.001)。结论MTHFR基因rs1801131等位基因C和基因型AC+CC可能增加URSA易感性,可能与FA水平降低,Hcy水平升高有关。Objective To analyze the correlation between rs1801131 polymorphism of methylenetetrahydrofolate reductase(MTHFR)gene and the susceptibility to unexplained recurrent spontaneous abortion(URSA).Methods 100 patients with unexplained recurrent spontaneous abortion admitted to our hospital from August 2017 to March 2019 were selected as the study group,and 100 healthy women in outpatient physical examination at the same time were selected as the control group.The general data and blood samples of all subjects were collected,the rs1801131 polymorphism of MTHFR gene was detected by DNA PCR sequencing.The serum homocysteine(Hcy)level was measured by Hitachi 7020 automatic analyzer.The he serum folate(FA)level was detected by enzyme-linked immunosorbent assay(ELISA).Logistic regression was used to analyze the relationship between rs1801131 polymorphism of MTHFR gene and the susceptibility of recurrent spontaneous abortion.Results There was no significant difference in age,menstrual cycle,BMI,blood glucose,TG,FA and Hcy level between the study group and the control group(P>0.05).The genotype and allele frequency of rs1801131 of MTHFR gene in the study group and the control group were consistent with Hardy Weinberg equilibrium.Compared with the control group,the frequencies of A allele and wild type AA genotype at rs1801131 of MTHFR gene in the study group were significantly reduced.The frequencies of C allele,heterozygous and homozygous mutation AC+CC genotype increased significantly(2=4.603,4.542,P=0.032,0.033).Compared with the AA genotype at rs1801131 of MTHFR gene,the FA level of AC+CC genotype decreased and Hcy level increased(t=14.068,32.216,P=0.000).Carrying AC+CC genotype,high Hcy level and low FA level could increase URSA susceptibility(OR=1.437,95%CI:1.234~1.673,P=0.012;OR=1.257,95%CI:1.112~1.421,P=0.035;OR=1.175,95%CI:1.620~2.920,P=0.000).Conclusion MTHFR rs1801131 allele C and genotype AC+CC may increase the susceptibility of URSA,which may be related to the decrease of FA level and the increase of Hcy leve

关 键 词：反复自然性流产 亚甲基四氢叶酸还原酶基因 多态性 易感性 

分 类 号：R714.21[医药卫生—妇产科学]