叶酸代谢相关基因多态性与血清同型半胱氨酸和叶酸联合检测对早期不明原因复发性流产的诊断价值  

Diagnostic value of combined detection of folate metabolism-related gene polymorphism and serum homocysteine and folate for early unexplained recurrent spontaneous abortion

作　　者：杜亭亭 李永杰 Du Tingting;Li Yongjie(Department of Clinical Laboratory,Xuzhou Heping Maternity Hospital,Xuzhou 221000,Jiangsu,China)

机构地区：[1]徐州和平妇产医院检验科,江苏徐州221000

出　　处：《实用检验医师杂志》2024年第4期332-336,共5页Chinese Journal of Clinical Pathologist

摘　　要：目的探讨叶酸代谢相关基因多态性联合血清同型半胱氨酸(HCY)和叶酸检测对早期不明原因复发性流产(URSA)的诊断价值。方法采用回顾性研究模型,选择2022年1月—2023年12月在徐州和平妇产医院进行围产保健的160例URSA患者作为研究对象,根据流产时间分为早期流产组(80例;孕周<12周)和晚期流产组(80例;孕周12~20周);另外选择同期80例进行常规围产保健的孕妇作为对照组。所有入组人员均进行血清HCY、叶酸水平以及亚甲基四氢叶酸还原酶(MTHFR)基因C677T、A1298C位点和甲硫氨酸合成酶还原酶(MTRR)基因A66G位点多态性检测。比较各组叶酸代谢相关基因多态性和血清中HCY、叶酸水平差异。采用多因素Logistic回归分析方法考察早期URSA的危险因素。绘制受试者工作特征曲线(ROC曲线)并计算ROC曲线下面积(AUC),评估各指标单独与联合检测对早期URSA的诊断价值。结果早期流产组的HCY水平显著高于晚期流产组和对照组,叶酸水平显著低于晚期流产组和对照组,差异均有统计学意义〔HCY(μmol/L):8.29(5.52,12.82)比6.69(4.27,9.77)、6.92(5.48,8.16);叶酸(nmol/L):6.82(4.53,10.57)比10.79(7.87,12.84)、13.04(10.24,15.80);均P<0.05〕。早期流产组MTHFR基因C677T位点TT基因型和T等位基因频率均显著高于对照组,差异均有统计学意义〔TT基因型:46.25%(37/80)比30.00%(24/80);T等位基因:66.88%(107/160)比55.00%(88/160);均P<0.05〕;MTHFR基因A1298C位点CC基因型和C等位基因频率均显著高于对照组,差异均有统计学意义〔CC基因型:15.00%(12/80)比5.00%(4/80);C等位基因:33.13%(53/160)比20.63%(33/160);均P<0.05〕。高水平HCY、低水平叶酸、MTHFR基因C677T位点TT基因型、MTHFR基因A1298C位点CC基因型均为早期URSA发生的独立危险因素〔优势比(OR)分别为1.414、0.804、0.336、0.274,95%可信区间(95%CI)分别为1.041~1.251、0.739~0.876、0.153~0.738、0.072~1.043,均P<0.05〕。单一指标中叶酸诊�Objective To investigate the diagnostic value of folate metabolism-related gene polymorphism combined with serum homocysteine(HCY)and folate detection for early unexplained recurrent spontaneous abortion(URSA).Methods A retrospective study model was employed.A total of 160 patients with URSA undergoing perinatal care at Xuzhou Heping Maternity Hospital from January 2022 to December 2023 were selected as study subjects.Based on the time of miscarriage,the patients were divided into early miscarriage group(80 cases;gestational age<12 weeks)and late miscarriage group(80 cases;gestational age of 12-20 weeks).Additionally,80 pregnant women undergoing routine perinatal care during the same period were selected as control group.All enrolled individuals underwent testing for serum HCY and folate levels and polymorphisms at C677T and A1298C loci of methylenetetrahydrofolate reductase(MTHFR)gene,as well as A66G locus of methionine synthase reductase(MTRR)gene.Differences in folate metabolism-related gene polymorphism and serum HCY and folate levels among the groups were compared.Multivariate Logistic regression analysis was used to identify risk factors for early URSA.The receiver operator characteristic curve(ROC curve)was plotted and the area under ROC curve(AUC)was calculated to evaluate the diagnostic value of individual and combined detection of indicators for early URSA.Results The level of HCY in early miscarriage group was significantly higher than those in late miscarriage group and control group,while the level of folate was significantly lower,with statistically significant differences[HCY(μmol/L):8.29(5.52,12.82)vs.6.69(4.27,9.77),6.92(5.48,8.16);folate(nmol/L):6.82(4.53,10.57)vs.10.79(7.87,12.84),13.04(10.24,15.80);all P<0.05].The frequencies of TT genotype and T allele at C677T locus of MTHFR gene in early miscarriage group were significantly higher than those in control group,with statistically significant differences[TT genotype:46.25%(37/80)vs.30.00%(24/80);T allele:66.88%(107/160)vs.55.00%(88/160);both P

关 键 词：不明原因复发性流产 同型半胱氨酸 叶酸 亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 

分 类 号：R71[医药卫生—妇产科学]