叶酸MTHFR C677T基因多态性与妊娠早期亚临床甲状腺功能减退的相关性研究

Correlation study of MTHFR C 677T gene polymorphism in folic acid with subclinical hypothyroidism in early pregnancy

目的探讨叶酸MTHFR C677T基因多态性与妊娠早期亚临床甲状腺功能减退的相关性研究。方法回顾性分析2016年12月-2017年12月在本院进行建卡的孕12周内孕妇1 958例的临床资料,其中亚临床甲状腺功能减退215例,单纯性低甲状腺素血症106例,排除其他类型甲状腺疾病后,选取甲状腺功能正常孕早期妇女1 437例作为对照组,筛查叶酸MTHFR C677T基因型及甲状腺激素水平,采用PCR-芯片杂交技术检测MTHFR C677T多态位点基因型,进一步探讨各组间基因型频率及等位基因频率,并分析游离甲状腺素(FT4)、促甲状腺素(TSH)、空腹血糖(GLU)与不同基因型的相关性。结果 3组间,C、T等位基因频率间,无明显差异,而TT型基因明显高于CC型(36. 8%对11. 7%,40. 0%对18. 7%,52. 2%对9. 2%,P <0. 05);且游离甲状腺素(FT4)(13. 01±1. 30) pmol/L在TT型基因型中明显低于CC型(13. 68±3. 68) pmol/L、CT型(13. 27±1. 87) pmol/L及CC+CT组合(13. 39±2. 49) pmol/L(P <0. 05)。结论低FT4与突变型TT型基因相关,可以做为叶酸MTHFR C677T基因多态性与妊娠早期亚临床甲状腺功能减退的相关性研究的有力依据。

Objective To study the correlation of MTHFR C677T gene polymorphism in folic acid with subclinical hypothyroidism in early pregnancy.Methods To retrospectively analyze 1958 pregnant women at 12 weeks of pregnancy from December 2016-December 2017,including 215 cases of subclinical hypothyroidism,106 cases of simple hypothyroxinemia.After excluding other types of thyroid disease,1437 pregnant women with normal thyroid function were selected as the control group. The folic acid MTHFR C677T genotype and thyroid hormone levels were detected,and the MTHFR C677T polymorphic locus genotype was detected by PCR-chip hybridization.The genotype frequency and allele frequency were further studied between groups,and the correlation of free thyroxine (FT4),thyrotropin (TSH),fasting blood glucose (GLU)-with different genotypes was analyzed.Results There was no significant difference between C and T allele frequencies among the three groups.TT type gene was significantly higher than CC type gene (36.8% vs 11.7%,40.0% vs 18.7%,52.2% vs 9.2%,P<0.05);free thyroxine (FT4)(13.01±1.30)pmol/L in TT genotype was significantly lower than CC type (13.68±3.68)pmol/L,CT type (13.27±1.87)pmol/L and CC+CT combination (13.39±2.49)pmol/L (P <0.05).Conclusion Low FT4 is associated with mutant TT-type genes and can be used as a strong basis for the study of the relationship between folate MTHFR C677T gene polymorphism and subclinical hypothyroidism in early pregnancy.