Szolnoki Zoltán, Somogyvári Ferenc, Szabó Mihály, Kondacs András, Fodor Lajos, Melegh Béla
Pándy Kálmán Megyei Kórház, I. Számú Neurológiai Osztály, Gyula.
Ideggyogy Sz. 2006 Mar 20;59(3-4):107-12.
Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations, being considered unfavourable genetic factors by causing elevated serum homocysteine levels, may be risk factors for cardiovascular disorders, including ischaemic stroke. In this study, the role of these two mutations in ischaemic stroke was examined:
Genetic and clinical data were analysed of 122 ischaemic stroke patients and 102 control subjects with no lesions by neuroimaging.
Neither of the two MTHFR mutations alone was found to be a significant genetic risk factor for ischaemic stroke. However, at least one MTHFR 677T allele combined with at least one MTHFR 1298C allele significantly increased the risk of ischaemic stroke (adjusted odds ratio: 3.39; p < 0.001).
The synergistic effect between the two MTHFR mutations may represent a new genetic stoke risk factor.
亚甲基四氢叶酸还原酶（MTHFR）C677T和A1298C突变通过导致血清同型半胱氨酸水平升高而被视为不利的遗传因素，可能是包括缺血性中风在内的心血管疾病的危险因素。在本研究中，对这两种突变在缺血性中风中的作用进行了研究：
分析了122例缺血性中风患者和102例经神经影像学检查无病变的对照者的遗传和临床数据。
未发现单独的两种MTHFR突变中的任何一种是缺血性中风的显著遗传危险因素。然而，至少一个MTHFR 677T等位基因与至少一个MTHFR 1298C等位基因显著增加了缺血性中风的风险（调整后的优势比：3.39；p<0.001）。
两种MTHFR突变之间的协同效应可能代表一种新的遗传中风危险因素。
