CAJ | 학술논문

目的探讨血浆同型半胱氨酸(Hcy)水平及N5、10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点突变与中青年缺血性脑血管病发病的关系. 方法选取自2010年1月至2012年9月焦作市人民医院神经内科住院的首次发病的中青年缺血性脑血管病患者220例(病例组)及同期非心脑血管疾病患者203例(对照组)为研究对象,采用荧光偏振免疫法检测血浆Hcy水平,采用多聚酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)技术检测MTHFR基因C677T位点多态性,并对结果进行统计学分析. 结果病例组和对照组纯合突变型TT与杂合突变型CT、纯合野生型CC比较以及T等位基因突变频率比较差异均有统计学意义(P＜0.05).病例组血浆Hcy水平[(32.16± 19.52)μmol/L]与对照组[(18.73±8.75) μmol/L]比较差异有统计学意义(P＜0.05).病例组和对照组中TT型血浆Hcy水平均明显高于CT型和CC型,差异有统计学意义(P＜0.05).多因素Logistic回归分析结果显示:年龄、高血压、高水平低密度脂蛋白胆固醇、糖尿病和高同型半胱氨酸血症(OR=2.135,95％CI:1.263～6.281,P=0.029)均是中青年缺血性脑血管病发病的易患因素. 结论高Hcy水平是中青年缺血性脑血管病发病的独立危险因素;MTHFR基因C677T位点纯合子突变(TT型)可引起血浆Hcy水平增高,但可能是与其他因素相互作用影响中青年缺血性脑血管病的发病.
목적 탐토혈장동형반광안산(Hcy)수평급N5、10-아갑기사경협산환원매(MTHFR)기인C677T위점돌변여중청년결혈성뇌혈관병발병적관계. 방법 선취자2010년1월지2012년9월초작시인민의원신경내과주원적수차발병적중청년결혈성뇌혈관병환자220례(병례조)급동기비심뇌혈관질병환자203례(대조조)위연구대상,채용형광편진면역법검측혈장Hcy수평,채용다취매련반응-한제성내절매편단장도다태성(PCR-RFLP)기술검측MTHFR기인C677T위점다태성,병대결과진행통계학분석. 결과 병례조화대조조순합돌변형TT여잡합돌변형CT、순합야생형CC비교이급T등위기인돌변빈솔비교차이균유통계학의의(P＜0.05).병례조혈장Hcy수평[(32.16± 19.52)μmol/L]여대조조[(18.73±8.75) μmol/L]비교차이유통계학의의(P＜0.05).병례조화대조조중TT형혈장Hcy수평균명현고우CT형화CC형,차이유통계학의의(P＜0.05).다인소Logistic회귀분석결과현시:년령、고혈압、고수평저밀도지단백담고순、당뇨병화고동형반광안산혈증(OR=2.135,95％CI:1.263～6.281,P=0.029)균시중청년결혈성뇌혈관병발병적역환인소. 결론 고Hcy수평시중청년결혈성뇌혈관병발병적독립위험인소;MTHFR기인C677T위점순합자돌변(TT형)가인기혈장Hcy수평증고,단가능시여기타인소상호작용영향중청년결혈성뇌혈관병적발병.
Objective To expore the correlation between plasma homocysteine (Hcy) level and mutation of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in middle-age and young patients with ischemic cerebravascular diseases (ICVDs).Methods Two hundred and twenty patients with ICVDs (≤ 55 years),admitted to our hospital from January 2010 to September 2012,were included as the case group while 203 subjects without stroke and coronary arterial disease matched with the case group for gender and age were collected as the control group.Plasma Hcy level was measured using fluorescence polarization immunoassay; and MTHFR c677T mutant was determined by polymerase chain reaction and restriction fragment length polymorphism.Results The mutated T allele frequencies in case and control groups were 59.8％ and 45.8％ with statistically significant difference (P＜0.05); homozygous mutant TT and heterozygous mutant CT,homozygous wild type CC between the two groups were statistically different (P＜0.05).The level of plasma Hcy were (32.16±19.52) μmol/L in the case group and (18.73±8.75) μmol/L in the control group with statistical significance difference (P＜0.05).The level of plasma Hcy of case and control groups with TT type was significantly higher than that with CT and CC types (P＜0.05).Multivariate Logistic regression analysis showed that age,hypertension,low-density lipoprotein cholesterol,diabetes mellitus,and high Hcy were risk factors for onset of ICVDs in middle-age and young patients.Conclusions High plasma Hcy level is a risk factor for onset of ICVDs in middle-age and young patients; MTHFR gene C677T homozygous mutation can induce an increase in plasma Hcy level,and there may be interactions with other factors.