MTHFR基因多态性与脊髓亚急性联合变性的相关性分析

Correlation between 5,10-Methylenetetrahydrofolate Reductase Gene Polymorphism and Subacute Combined Degeneration

目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点和A1298C位点多态性与脊髓亚急性联合变性(SCD)的关系。方法选择2017年1月~2020年7月于宝鸡市中心医院神经内科诊治的85例SCD患者作为病例组,另外募集100例健康体检者作为对照组。采用荧光定量PCR法检测MTHFR基因C677T和A1298C位点多态性,比较各组两位点基因型和等位基因频率,分析两位点多态性与SCD发病的相关性。结果病例组C677T位点TT基因型和T等位基因频率均高于对照组(χ^(2)=10.527,11.144,均P<0.05),A1298C位点CC基因型和C等位基因频率均高于对照组(χ^(2)=6.575,6.076,均P<0.05),差异均有统计学意义。C677T位点和A1298C位点基因多态性均与同型半胱氨酸水平增高密切相关(χ^(2)=19.625,10.786,均P<0.05);与血清VitB12和叶酸水平均无明确相关性(χ^(2)=1.827~5.549,均P>0.05)。多因素分析示携带C677T位点TT基因型是SCD发病的独立危险因素(OR=2.768,95%CI:1.487~5.516,P=0.005),A1298C位点基因多态性与SCD发病无明确相关性(OR=2.190,95%CI:0.958~5.004,P=0.067)。结论MTHFR基因C677T位点突变与SCD发病密切相关。

Objective To investigate the genetic association between the 5,10-methylenetetrahydrofolate reductase(MTHFR)gene C677T and A1298C polymorphism and subacute combined degeneration(SCD)in the Han descent population in the Shaanxi Province.Methods 85 patients with SCD treated in the Department of Neurology of Baoji Central Hospital from January 2017 to July 2020 were included in the study as the case group,and another 100 healthy subjects were recruited as the control group.The genotype was determined by fluorogenic quantitative PCR for the MTHFR gene C677T and A1298C polymorphism.The genotype and allele frequencies of the two loci in each group were compared to analyze the correlation between the polymorphism of MTHFR gene polymorphism and the incidence of SCD.Results The TT genotype and T allele frequencies of C677T in the case group were higher than those of the control group(χ^(2)=10.527,11.144,all P<0.05),A1298C CC genotype and C allele frequency were higher than those of the control group(χ^(2)=6.575,6.076,all P<0.05),the differences were statistic significant,respectively.Polymorphisms at both C677T and A1298C were closely associated with increased homocysteine levels(χ^(2)=19.625,10.786,all P<0.05).There was no clear correlation with serum VitB12 and folic acid levels(χ^(2)=1.827~5.549,all P>0.05).Multivariate analysis showed that C677T TT genotype was risk factor of SCD(OR=2.768,95%CI:1.487~5.516,P=0.005).There was no association between the A1298C gene polymorphism and susceptibility of SCD(OR=2.190,95%CI:0.958~5.004,P=0.067).Conclusion Polymorphism of MTHFR(C677T)associate with the susceptibility of SCD.