摘要
目的:研究Ns,N10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性及血浆同型半胱氨酸(Hcy)水平与青年脑血管病的关系。方法:研究对比40例青年脑血管病患者(首次发病年龄≤50岁)及32例健康青年人的MTHFR基因多态性及血浆Hcy水平。结果:(1)对照组及病例组T/T纯合子率分别为37.5％和22.5％;T等位基因频率分别为60.9％和51.3％,差异均无显著统计意义(均P>0.05)。(2)病例组血浆Hcy几何均值(11.0±2.3μmol/L)显著高于对照组(8.0±1.4μmol/L,P<0.05)。(3)所有受试者中T/T组Hcy值高于C/C组(10.4μmol/L和7.6μmol/L),但差异无显著性(P>0.05)。结合叶酸考虑,进一步将所有受试者按叶酸中位数水平分组。叶酸中位数以下组中,T/T组Hcy值显著高于C/C组(P<0.05);而叶酸中位数以上组中,T/T组Hcy值与C/C组无显著差异。(4)血浆Hcy与叶酸、维生素B12呈显著负相关,与肌酐呈显著正相关。吸烟者血浆Hcy水平显著高于不吸烟者(P<0.05)。结论:(1)本组人群MTHFR基因C677T突变的纯合子在低叶酸状态下可引起血浆Hcy水平显著增高,但与青年脑血管病无显著关系。MTHFR基因677TT纯合突变可能为健康青年人脑血管的保护因素。(2)血浆Hcy水平与青年脑血管病的发生密切相关。(3)叶酸、维生素B12肌酐、吸烟是Hcy的非遗传影响因素。
Objective: to investigate the relationships of polymrophisms of MTHFR and plasma homocysteine(Hcy) levels with cerebrovascular disease in young adults. Methods: This case control study was based on 40 consecutive patients of young adult cerebrovascular disease (age at first event, ≤ 50 years). 32 age-and sex -matched apparently healthy subjects served as controls. Their polymorphisms of MTHFR gene were analyzed using PCR-RFLP and their fasting plasma total homocysteine(tHcy)levels were measured using FP1A. In addition, serum folate and vitamin B12 of all the subjects were detected. Results: (1) There was no significant difference between patients and control subjects in either TT genotype frequency(22. 5% versus 37. 5%; P>0. 05) or T allele frequency(0. 513 versus 0. 609; centile). (2)Mean total fasting plasma homocysteine concentrations were significantly higher in patients than in the normal subjects(11.0±2. 5μmol/L versus 8. 0±1. 4μmol/L, P<0. 05). (3) There was a positive association between the homozygous(T/T) mutation and elevated fasting plasma homocysteine levels, mainly among those with low serum foiate. In addition, plasm homocysteine level was inversely related to serum folate and vitamin B12 concentrations whereas positively related to serum creatinine and smoking. Conclusions: In this population, MTHFR polymorphism is positively associated with higher homocysteine levels mainly among those with low serum folate level but noft with risk of cerebrovascular diseases in yong a-dult. Indeed, the T allele may in fact protect thd cerebral endothelium in young normal subjects. Elevated plasm homocysteine is strongly associated with an increased prevalence of young cerebrovascular disease. In addition to gene mutation. Plasm homocysteine level is inversely related to serum folate and vitamin B12 concentrations whereas positively related to serum creatinine and smoking.
出处
《脑与神经疾病杂志》
2004年第4期271-274,共4页
Journal of Brain and Nervous Diseases
关键词
脑血管病
基因
同型半胱氨酸
青年
Cerebrovascular disease gene homocystenine youth
