MTHFR基因型与晚期肾脏病/肾移植受者血浆高半胱氨酸水平及心血管病发生率的关系  

Effects of MTHFR gene mutations on the level of plasma homocysteine and the incidence of cardiovascular diseases in end-stage renal disease patients and renal graft recipients

作　　者：姜傥[1] 曾智杰[1] 刘云启[2] 刘敏[1] 周建中[2] 何惠娟[2] 关伟明[2] 

机构地区：[1]中山医科大学附属第一医院检验医学部 [2]中山医科大学附属第一医院肾内科

出　　处：《临床检验杂志》2003年第6期327-329,共3页Chinese Journal of Clinical Laboratory Science

摘　　要：目的　探讨血浆高半胱氨酸 (Hcy)在肾脏病患者发生心血管疾患中的影响。方法　采用荧光偏振免疫分析、DNA基因型别分析等技术 ,对 5 0例晚期肾脏病患者及肾移植受者进行了Hcy水平、N5,N1 0 亚甲基四氢叶酸还原酶 (MTHFR)基因多态性分布测定及相关分析 ,并与肾病综合征患者及正常人进行对照。结果　 (1 )受检人群中Hcy水平较正常人及肾病综合征患者组明显升高 ;(2 )受检人群中MTHFR的TT突变机率较正常人及肾病综合征组明显升高 ;(3)TT基因型与Hcy水平升高及心血管疾患的发生机率密切相关。结论　血浆中的Hcy可能是晚期肾脏病患者和肾移植受者体内的一种重要毒性物质。Objective To study the effects and mechanism of hyperhomocysteinemia(Hcy) on the incidence of cardiovascular diseases in nephrotic/nephritic patients.Methods The level of homocysteine (Hcy) was measured by fluorescence polarization immunoassay and the polymorphism of methylenetetrahydrofolate reductase(MTHFR) gene was detected by RT PCR in 50 patients with end stage renal disease or renal graft recipients.Forty of healthy subjects and 12 of the patients with nephritic syndrome served as controls.Results (1)The level of Hcy in the group of end stage renal disease and renal graft recipients was higher than that in the control groups;(2)The incidence of TT mutation of MTHFR gene was also remarkably elevated;(3)There was a close relationship between the genetic type of TT and hyperhomocysteinemia as well as the incidence of cardiovascular disease.Conclusions Higher serum Hcy may be an important toxic substance in end stage renaldisease patients and renal graft recipients.Hyperhomocysteinemia may be related to TT mutation of MTHFR gene in our research group.

关 键 词：MTHFR 基因型 晚期肾脏病 肾移植 受者 血浆 高半胱氨酸 心血管病 发生率 N5 N10-亚甲基四氢叶酸还原酶 基因多态性 

分 类 号：R699.2[医药卫生—泌尿科学] R543[医药卫生—外科学]