MTHFR与MTRR基因相关突变与H型高血压相关性分析

Correlation of MTHFR and MTRR gene related mutations with H-type hypertension

目的探讨亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成酶还原酶(MTRR)基因多态性与H型高血压的相关性。方法选取2017-04~2017-10西安北方医院55例H型高血压患者样本做为病例组,37例孕妇样本作为健康对照组,使用PCR熔解曲线法检测两组人群MTHFR基因677C> T、1298A> C和MTRR基因66A> G位点的多态性,分析两组人群的基因型及分布,采用循环酶法检测血清同型半胱氨酸(Hcy)水平。结果与孕妇健康对照组相比,H型高血压组MTHFR 677C> T的T等位基因频率显著升高(χ~2=10. 172,P <0. 01),而MTHFR 1298A> C和MTRR66A> G差异无统计学意义(P> 0. 05)。此外,H型高血压组血清Hcy明显高于孕妇健康对照组(P <0. 01),血清Hcy水平在MTHFR 677C> T的基因型间差异有统计学意义(P <0. 05),但在MTHFR 1298A> C和MTRR66A>G的基因型间差异无统计学意义(P> 0. 05)。结论 MTHFR 677C> T中T等位基因与H型高血压密切相关,也与Hcy水平升高相关,但未发现MTHFR 1298A> C和MTRR66A> G与H型高血压及Hcy水平升高有关。

Objective To investigate the relationship between methylenetetrahydrofolate reductase （MTHFR） and methionine synthase reductase （MTRR） gene polymorphism and H-type hypertension. Methods A total of 55 patients with H-type hypertension were selected as the case group and 37 pregnant women were chosen as healthy control group. The MTHFR gene 677C〉T, 1298A〉C and MTRR gene 66A〉G were detected by PCR melting curve and their genotype and distribution of the two groups were analyzed. Serum homocysteine （Hcy） levels were measured by cyclic enzyme method. Results The frequencies of T allele of MTHFR 677C〉T in H-type hypertensive group was significantly higher than that in maternal healthy control group （χ2=10.172, P〈0.01）, but there was no significant difference between MTHFR 1298A〉C and MTRR 66A〉G（P〉0.05）. In addition, serum Hcy in H-type hypertensive group was significantly higher than that in pregnant women healthy control group （P〈0.01）, serum Hcy level in MTHFR 677C〉T genotype difference was statistically significant （P〈0.05）, but MTHFR 1298A〉C and MTRR 66A〉 G genotype were not statistically significant （P〉 0.05）. Conclusion The T allele in MTHFR 677C〉T is closely related to H-type hypertension, but also to the level of Hcy, but it is not found that MTHFR 1298A〉C and MTRR 66A〉G are related to the increase of H-type hypertension and Hcy level.