Fernández-Miranda Consuelo, Coto Angel, Martínez Joaquín, Gómez Pilar, Gómez de la Cámara Agustín
Servicio de Medicina Interna, Hospital Universitario 12 de Octubre, Madrid, Spain.
Med Clin (Barc). 2005 Apr 16;124(14):532-4. doi: 10.1157/13073939.
To investigate whether hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) 677C --> T mutation are associated with venous thromboembolism in young Spanish adults.
One hundred adult patients younger than 50 years and 177 controls with similar age and gender.
Hyperhomocysteinemia was present in 21% of the patients and 3.3% of the controls (p < 0.001), and MTHFR 677C --> T mutation was found in 25 and 14.7%, respectively (p = 0.03). Odds ratio (OR) for thromboembolism in hyperhomocysteinemic patients was 7.5 (95% CI, 2.9-19.2; p < 0.001), and in patients with MTHFR 677C --> T mutation the OR was 1.9 (95% CI, 1.1-3.5; p = 0.03). In a subgroup of 76 patients without other thrombogenic factors, thromboembolism persisted associated with hyperhomocysteinemia, yet an association with MTHFR 677C --> T mutation was not confirmed.
Hyperhomocysteinemia, but not MTHFR 677C --> T mutation, is a risk factor for venous thromboembolism in young adults without other thrombogenic factors.
研究高同型半胱氨酸血症和亚甲基四氢叶酸还原酶（MTHFR）677C→T突变是否与西班牙年轻成年人静脉血栓栓塞相关。
100例年龄小于50岁的成年患者以及177例年龄和性别与之相似的对照者。
21%的患者和3.3%的对照者存在高同型半胱氨酸血症（p<0.001），MTHFR 677C→T突变分别在25%的患者和14.7%的对照者中发现（p=0.03）。高同型半胱氨酸血症患者发生血栓栓塞的比值比（OR）为7.5（95%可信区间，2.9-19.2；p<0.001），MTHFR 677C→T突变患者的OR为1.9（95%可信区间，1.1-3.5；p=0.03）。在76例无其他血栓形成因素的患者亚组中，血栓栓塞仍与高同型半胱氨酸血症相关，但未证实与MTHFR 677C→T突变相关。
在无其他血栓形成因素的年轻成年人中，高同型半胱氨酸血症而非MTHFR 677C→T突变是静脉血栓栓塞的危险因素。
