CAJ | 학술논문

我国心脑血管事件疾病谱与危险因素频谱与西方人群明显不同。脑卒中是我国高血压人群最主要的心血管事件。亚甲基四氢叶酸还原酶(MTHFR) C677T基因突变是导致叶酸水平下降和血同型半胱氨酸水平升高的主要遗传因素之一，我国高血压人群MTHFR 677CT/TT突变频率高达75%。中国人群独特的基因背景及其与低叶酸水平的相互作用是我国H型高血压（伴有血同型半胱氨酸升高的高血压）高发进而导致心血管疾病，尤其是脑卒中高发的重要因素；同时，MTHFR C677T基因多态性可以修饰血管紧张素转换酶抑制剂(ACEI)类降压药物和补充叶酸的干预疗效。马来酸依那普利叶酸片及其配套的MTHFR C677T基因多态性检测试剂盒是基于中国人群疾病特征、危险因素及基因背景研制的，可以实现鉴别高危人群、早期干预和最大程度获益，这也是目前心脑血管常见疾病中的首个“基因诊断-个体化治疗”产品对。目前正在进行的中国脑卒中一级预防研究及有关马来酸依那普利叶酸片用于H型高血压患者脑卒中预防的比较效果研究，将为马来酸依那普利叶酸片在治疗高血压基础上进一步防治脑卒中的疗效及MTHFR C677T基因多态性对其疗效的修饰作用提供更确切的循证医学证据。
아국심뇌혈관사건질병보여위험인소빈보여서방인군명현불동。뇌졸중시아국고혈압인군최주요적심혈관사건。아갑기사경협산환원매(MTHFR) C677T기인돌변시도치협산수평하강화혈동형반광안산수평승고적주요유전인소지일，아국고혈압인군MTHFR 677CT/TT돌변빈솔고체75%。중국인군독특적기인배경급기여저협산수평적상호작용시아국H형고혈압（반유혈동형반광안산승고적고혈압）고발진이도치심혈관질병，우기시뇌졸중고발적중요인소；동시，MTHFR C677T기인다태성가이수식혈관긴장소전환매억제제(ACEI)류강압약물화보충협산적간예료효。마래산의나보리협산편급기배투적MTHFR C677T기인다태성검측시제합시기우중국인군질병특정、위험인소급기인배경연제적，가이실현감별고위인군、조기간예화최대정도획익，저야시목전심뇌혈관상견질병중적수개“기인진단-개체화치료”산품대。목전정재진행적중국뇌졸중일급예방연구급유관마래산의나보리협산편용우H형고혈압환자뇌졸중예방적비교효과연구，장위마래산의나보리협산편재치료고혈압기출상진일보방치뇌졸중적료효급MTHFR C677T기인다태성대기료효적수식작용제공경학절적순증의학증거。
There are remarkable differences in the distribution and risk factors of the cardiovascular disease between Chinese and western populations. Hyperhomocysteinemia is much more common and the incidence of stroke is much higher in China. Hypertension individuals with a combination of elevated homocysteine (≥10μmol/L) (so cal ed Hyperhomocysteinemia-typed hypertension, H-typed hypertension) had a strikingly increased risk of stroke compared with individuals without either condition. H-typed hypertension, approximately 75% of the hypertensive adults in China, may possibly explain the extremely high incidence of stroke among Chinese hypertensive adults, even after control ing for blood pressure. Methylenetetrahydrofolatereductase (MTHFR) is the main regulatory enzymes for homocysteine metabolism. Polymorphism of MTHFR C677T (677 CT/TT genotype), among 75% of the hypertensive adults in China, leads to a reduction in enzyme activity, which may lead to an increased concentration of plasma homocysteine and lower levels of serum folate, particularly in most of the Chinese population with low folate intake. Furthermore, MTHFR C677Tpolymorphism can modify therapeutic responses to various dosages of folic acid supplementation or ACEI antihypertensive drugs. A combination of enalapril and folic acid tablets and MTHFR C677T polymorphism identifier is a cost-effective strategy for prediction, prevention and management of H-typed hypertension and its major complication such as stroke, in Chinese populations. The China Stroke Primary Prevention Trial (CSPPT, n=20702) tested the hypothesis that a combined enalapril and folic acid therapy (enalapril maleate 10mg and folic acid 0.8mg/day tablet ) is more effective than enalapril (10mg/day tablet) alone in reducing the incidence of stroke in hypertensive patients. It further evaluated whether MTHFR C677T polymorphism modiifes the therapeutic effect.The CSPPT could provide a conclusive answer regarding the role of enalapril and folic acid tablets and MTHFR C677T polymorphism in the primary prevention of stroke and the tailored medicine.