广西黑衣壮族高血压人群同型半胱氨酸及其代谢酶MTHFR C677T多态性研究

摘要

目的:探讨同型半胱氨酸(Hcy)及其代谢酶N5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与广西黑衣壮族人群原发性高血压(EH)的关系.方法:选取2017年1月至2018年1月于广西医科大学附属广西民族医院就诊的120例EH患者作为EH组.另随机抽取120例居住在广西壮族自治区龙州县金龙地区的黑衣壮族健康人群作为对照组.比较两组血浆Hcy水平.应用特异引物PCR及聚合酶链反应限制性片段长度多态性(PCR-RFLP)方法检测两组MTHFR C677T多肽位点的基因型.结果:EH组血浆Hcy水平明显高于对照组,两组组内男性血浆Hcy水平高于女性(P<0.05).两组MTHFR C677T的3种基因型CC、CT、TT以及C、T等位基因频率分布无明显差异(P>0.05).MTHFR C677T不同基因型血浆Hcy水平比较,差异无统计学意义(P>0.05).Hcy水平是EH的独立危险因素(OR=1.74,95％CI:1.04～2.52,P<0.05),MTHFR C677T基因多态性与EH无关(OR=0.97,95％CI:0.89～1.08,P>0.05).结论:Hcy水平是广西黑衣壮族EH的独立危险因素,但MTHFR C677T位点突变可能不是影响血Hcy水平的重要遗传因素.%Objective:To explore the relationship between homocysteine(Hcy) and the gene polymorphism of its metabolic enzyme,N5,10-methylenetetrahydrofolate reductase(MTHFR) C677Tin Heiyi Zhuang essential hypertension(EH) patients in Guangxi.Methods:From January 2017 to January 2018,120EH patients in our hospital were selected as EH group.A total of 120healthy subjects living in Jinlong district, Longzhou,Guangxi were selected as control group.Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to detect the gene polymorphism of MTHFR C677T.The plasma Hcy level was compared.Results:Plasma Hcy level in EH group was higher than that in control group,and male EH patients had higher Hcy level than females(P<0.05).The MTHFR C677Tgenotypes CC,CT and TT as well as C and T allele frequency distribution were similar in the two groups(P>0.05).There was no significant difference in plasma Hcy level among different genotypes of MTHFR C677T(P>0.05). Hcy level was an independent risk factor for EH (OR=1.74,95％ CI:1.04-2.52,P<0.05) ,and MTHFR C677 Tpolymorphism was not associated with EH (OR=0.97,95％ CI:0.89-1.08,P>0.05).Conclusion: Hcy level was an independent risk factor for EH in Heiyi Zhuang population in Guangxi,but the MTHFR C677 Tmutation may not be important genetic factor influencing blood Hcy level.