Phenotypic variability of cardiovascular manifestations in Marfan Syndrome - Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism
Phenotypic variability of cardiovascular manifestations in Marfan Syndrome - Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism
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DOI：
10.1016/j.ehj.2003.08.020
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发表时间：
2003-11-01
影响因子：
39.3
通讯作者：
Pepe, G
中科院分区：
文献类型：
--
作者：
Giusti, B;Porciani, MC;Pepe, G
目的本研究的目的是评估（1）同型半胱氨酸血症和C677T MTHFR多态性在马凡氏症患者中的患病率以及（2）心血管症状的严重程度是否与同型半胱氨酸血症和/或C677T多态性相关。方法和结果我们研究了107例患者，根据心血管症状的严重程度分为三个亚组：（A）无受累（n = 4）;（B）轻度受累（n = 45）;（C）主动脉扩张或主动脉夹层（n = 58）; C组总同型半胱氨酸（tHcy）水平明显高于B组。C亚组有夹层者tHcy高于无夹层者。C亚组中677 T纯合子的患病率高于B亚组，但不显著。在有夹层的患者中，677 T纯合子的患病率显着高于无夹层的患者和亚组B。在Logistic回归分析中，严重的心血管表现和主动脉夹层在马凡患者与tHcy血浆levels.Conclusions我们的数据表明，心血管表现的严重程度之间的关联，特别是主动脉夹层，和升高的tHcy水平。这表明了一个重要的作用，tHcy在确定表型变异的马凡氏患者，并提供了进一步的证据，同型半胱氨酸血症与血管系统的损害的关联。(C)2003年欧洲心脏病学会。由爱思唯尔有限公司出版。保留所有权利。
Aims The aim of this study was to evaluate (1) homocysteinemia and the prevalence of the C677T MTHFR potymorphism in Marfan patients and (2) whether the severity of cardiovascular manifestations is associated with homocysteinemia and/or C677T polymorphism.Methods and results We studied 107 patients subdivided into three subgroups based on the severity of cardiovascular manifestations: (A) no involvement (n=4); (B) mild involvement (n=45); (C) aortic dilatation or aortic dissection (n=58), and 189 controls. Total homocysteine (tHcy) was significantly higher in subgroup C than in subgroup B. In subgroup C patients with dissection tHcy was higher than in those without dissection. In subgroup C the prevalence of 677T homozygotes was higher, but not significantly, than in the subgroup B. In patients with dissection the prevalence of 677T homozygotes was significantly higher than in those without dissection and than in subgroup B. In the logistic regression analysis, severe cardiovascular manifestations and aortic dissection in Marfan patients were associated with tHcy plasma levels.Conclusions Our data indicate an association between the severity of the cardiovascular manifestations, in particular aortic dissection, and elevated tHcy levels. This suggests an important role for tHcy in determining phenotypic variability in Marfan patients and provides further evidence for the association of homocysteinemia with the damage of the vascular system. (C) 2003 The European Society of Cardiology. Published by Elsevier Ltd. All rights reserved.