MTHFRC677T基因多态性及血浆同型半胱氨酸与高血压合并缺血性脑卒中的相关性研究

摘要

Objective This study was to observe the genotypes and allelea frequencies distribution of MTH-FRC677T in hyperyension with Ischemic stroke in a Northeast Han Chinese population.Methods Firstly,a case-con-trol study was performed in the contral group (n=104),the Hypertension group (n=116),the Ischemic stroke group (n=110)and the hypertension with Ischemic stroke group (n=95)from the First Affiliated Hospital of Jiamusi Uni-versity between October 2016 and May 2017.Secondly,the genomic DNA was extracted from the peripheral blood by u-sing Genomic DNA kit,and single nucleotide polymorphisms (SNPs)of MTHFRC677T was genotyped by PCR-HRM. Lastly,we applied SPSS19.0 software for data processing and statistical analysis to compare the allele and genotype dis-tribution of SNPbetween the groups and to explore the risk factors of Hcy by using unconditional logistic regression model.Results The genotypes of C/T or T/T in case group were higher than that in control group(54.31%-55.45%vs.46.15%),(27.59%-30% vs.20.19%),and the differences were statistically significant(prange = 0.001-0.0082). Compared to Hypertension group,the genotypes distribution of C/T or T/T in hypertension with Ischemic stroke group and Ischemic stroke group were almost the same(Prange =0.7-0.8).The influence of aging on Hcy was not significant under the mixed factors of diseases(P =0.88).Conclusion Our study showed thatsingle polymorphism of CT or TT confer the risk of hypertension with Ischemic stroke.CT or TT can increase the level of Hcy higher than ageing.%目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性的基因型和等位基因频率及血浆同型半胱氨酸与高血压合并缺血性脑卒中的相关性.方法 首先采用病例-对照研究,随机选取425例研究对象分为对照组(n=104)、高血压组(n=116)、缺血性脑卒中组(n=110)、高血压合并缺血性脑卒中组(n=95).其次用基因组DNA试剂盒提取DNA,通过聚合酶链反应-高分辨率溶解曲线(PCR-HRM)方法进行基因分型,最后通过统计学方法分析基因型在不同组间的分布情况,并探索影响血浆同型半胱氨酸(Hcy)的因素.结果 各实验组C/T、T/T基因型均高于对照组(54.31%-55.45%vs.46.15%)、(27.59%-30%vs.20.19%),差异具有统计学意义(prange=0.001-0.0082),高血压合并缺血性脑卒中组分别与高血压组以及缺血性脑卒中组比较,CT、TT基因型分布无差别(Prange=0.7-0.8),年龄因素在和疾病的共同影响下对Hcy的影响并不显著(P=0.88).结论 MTHFRC677T基因型C/T或T/T会增加患高血压病、缺血性脑卒中以及高血压合并缺血性脑卒中的风险,基因型C/T或T/T比增龄对Hcy增高的影响更显著.