MTHFR基因多态性对血管内皮功能指标的影响  

Influence of MTHFR genetic polymorphism on the indexes of vascular endothelial functions

作　　者：黄海威[1] 谭双全[1] 付贤[1] 彭丹心[2] 刘秀琴[3] 林锐金 吴述恒 何深文[1] 黄家星[5] 

机构地区：[1]中山大学附属第一医院神经科 [2]中山大学附属第一医院感染科 [3]中山大学放射免疫检测中心,广东广州510080 [4]广东佛山市顺德区容奇医院,广东佛山528303 [5]香港中文大学威尔斯亲王医院内科及药物治疗系

出　　处：《中国病理生理杂志》2008年第10期1932-1936,共5页Chinese Journal of Pathophysiology

基　　金：广东省科技计划基金资助项目(No.2004B33801002);广东省自然科学基金资助项目(No.06021358)

摘　　要：目的:研究社区人群中MTHFR677C→T基因突变对血管紧张素Ⅱ、前列环素和一氧化氮水平的影响。方法:整群抽取社区汉族成年居民1146人,采用PCR-RFLP鉴定目标人群MTHFR677位基因型;采用荧光生化技术测定血浆Hcy浓度;用镉还原法检测其血清一氧化氮水平,用放射免疫分析法检测血浆血管紧张素Ⅱ和前列环素的浓度。所有数据用SPSS13.0软件进行统计分析。结果:1146例居民按MTHFR677基因型自然分组,三组之间PGI2、AngⅡ没有统计学差异;C/C和T/C基因型组之间血清NO水平无显著差异(P>0.05),T/T基因型组的血清NO水平较C/C和T/C基因型组都低(P<0.01)。结论:社区人群中MTHFR677C→T突变对血浆PGI、AngⅡ的影响并不明显;血清NO水平下降,可能是MTHFR677C→T导致缺血性心脑血管病的机制之一。AIM： To investigate the influence of methylenetetrahydrofolate reductase （MTHFR） 677 C→T mutation on angiotensin Ⅱ （Ang Ⅱ）, prostacyclin （PGI2 ） and nitric oxide （NO）. METHODS： By cluster sampling, 1146 adult Han people were selected from the residential communities. MTHFR 677 genotypes were identified by polymerase chain reaction -restriction fragment length polymorphism for each sample. Plasma levels of homocysteine were determined by fluorescence ration biochemical assay. Serum NO levels were determined by cadmium reduction method. Plasma Ang Ⅱ and PGI2 concentrations were determined by radioimmunoassay. SPSS 13.0 was used for data analysis. RESULTS ： Total sanlples were divided into three groups according to the genotypes. No significant difference in PGI2 and Ang Ⅱ among the three groups was observed. The difference of serum NO level between the C/C and T/C genotypes was not significant （P 〉 0. 05）. The serum concentration of NO of T/T genotype was significantly lower than that of T/C and C/C genotypes （P 〈0. 01 ）. CONCLUSION： The influence of MTHFR 677 C→T mutation on Ang Ⅱ and PGI2 is not significant in the people from the residential communities. The decrease in serum NO level might be one of the underlying mechanisms of MTHFR 677 C→T mutation causing myocardial infarction and ischemic stroke.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 血管紧张素Ⅱ 前列腺环素 一氧化氮 

分 类 号：R363[医药卫生—病理学]