土家族脑卒中患者MTHFR、MTRR67基因单核苷酸多态性及其与血清同型半胱氨酸水平的关系

Single nucleotide polymorphisms of MTHFR and MTRR67 genes and their correlations with serum homocysteine levels in Tujia patients with stroke

目的探讨土家族亚甲基四氢叶酸还原酶(MTHFR)基因677、1298位点及蛋氨酸合成酶还原酶(MTRR)基因66位点单核苷酸多态性(SNP)及其与血清同型半胱氨酸水平的关系。方法选取土家族脑卒中住院患者92例作为卒中组,同期140例土家族健康体检人群作为对照组。采用PCR法检测两组MTHFR基因677、1298位点及MTRR基因66位点SNP及基因型,高效液相色谱法检测血浆同型半胱氨酸水平。比较MTHFR基因677、1298位点及MTRR基因66位点不同基因型脑卒中患者同型半胱氨酸水平,分析MTHFR、MTRR基因上述位点SNP与脑卒中的关系。结果两组MTHFR基因677位点CC、TT、CT基因型及C、T等位基因,1298位点CC、AA、AC基因型及C、A等位基因分布比较差异无统计学意义(P均>0.05);与对照组相比,卒中组MTRR基因66位GG基因型比率上升,AG基因型比率下降(χ~2分别为15.13、5.58,P均<0.05)。MTHFR基因677位点TT基因型同型半胱氨酸水平高于CC、CT型(P均<0.05)。MTHFR基因677、1298位点及MTRR基因66位点SNP与脑卒中发生无明显相关性(P均>0.05)。结论土家族脑卒中患者MTRR基因66位点GG基因型比率上升,AG基因型比率下降;MTHFR基因677位点TT基因型与脑卒中患者高同型半胱氨酸水平有关。

Objective To explore the single nucleotide polymorphisms(SNPs)of methylenetetrahydrofolate reductase gene 677 and 1298 loci(MTHFR677,MTHFR1298),and methionine synthase reductase gene locus 66(MTRR66)and their relationships with the serum homocysteine levels in Tujia patients with stroke.Methods Ninety-two Tujia stroke patients were selected as the stroke group,and 140 Tujia healthy subjects in the department of health management were selected as the control group.The SNPs and genotypes of MTHFR677,MTHFR1298,and MTRR 66 were detected by PCR,and the plasma homocysteine level was detected by high performance liquid chromatography(HPLC)in the two groups.The levels of homocysteine in stroke patients with different genotypes of MTHFR677,MTHFR1298,and MTRR66 were compared,and the correlation between MTHFR and MTRR SNPs and stroke was analyzed.Results The MTHFR677 CC,TT,CT genotypes and C,T allele,MTHFR1298 CC,AA,AC genotypes and C,A allele distribution were not statistically different between the two groups(all P>0.05).Compared with the control group,the ratio of GG genotype of MTRR66 in the stroke group increased significantly,while AG genotype decreased(χ~2=15.13 and 5.58,both P<0.05).The homocysteine level in patients with MTHFR677 TT genotype was higher than that of patients with CC and CT genotypes(all P<0.05).The SNPs of MTHFR677,MTHFR1298 and MTRR66 were not significantly correlated with the stroke(all P>0.05).Conclusion The ratio of the MTRR66 GG genotype in Tujia stroke patients increases and the ratio of AG genotype decreases,and the TT genotype of MTHFR677 is associated with high homocysteine levels in stroke patients.