Uçar Fahri, Sönmez Mehmet, Ovali Ercüment, Ozmenoglu Mehmet, Karti S Sami, Yilmaz Mustafa, Pakdemir Alper
Department of Medical Biology & Genetics, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey.
Am J Hematol. 2004 May;76(1):40-3. doi: 10.1002/ajh.20050.
The MTHFR C677T mutation has been shown to be associated with venous thrombosis. The role of this mutation in ischemic stroke is unclear. We investigated whether the MTHFR mutation is a risk factor for patients with ischemic stroke in the Black Sea Turkish population or not. We analyzed 30 patients (19 male, 11 female) [median age: 50 years (range: 28-78)] with ischemic stroke who had no known predisposition factors for stroke and 242 (182 male, 60 female) healthy controls [median age: 42 years (range: 18-65)]. Detection of the MTHFR C677T mutation was performed by using commercially available allele-specific PCR-ELISA kits. Prevalence of the MTHFR C677T genotype was 49.1% (CT, 45.8%; TT, 3.3%) in controls and 50% (CT, 43.3%; TT, 6.6%) in patients [OR: 1.03, 95% CI (0.45-2.35]). The prevalence of homozygous gene mutation for MTHFR was higher among patients with stroke than control subjects, but this difference was not statistically significant. The MTHFR gene mutation is not a risk factor for ischemic stroke formation in patients from the Black Sea region in Turkey.
MTHFR C677T突变已被证明与静脉血栓形成有关。该突变在缺血性卒中中的作用尚不清楚。我们调查了MTHFR突变是否是黑海地区土耳其人群缺血性卒中患者的危险因素。我们分析了30例无已知卒中易患因素的缺血性卒中患者(19例男性,11例女性)[中位年龄:50岁(范围:28 - 78岁)]和242例健康对照者(182例男性,60例女性)[中位年龄:42岁(范围:18 - 65岁)]。采用市售的等位基因特异性PCR - ELISA试剂盒检测MTHFR C677T突变。MTHFR C677T基因型在对照者中的患病率为49.1%(CT,45.8%;TT,3.3%),在患者中的患病率为50%(CT,43.3%;TT,6.6%)[比值比:1.03,95%置信区间(0.45 - 2.35)]。卒中患者中MTHFR纯合基因突变的患病率高于对照者,但这种差异无统计学意义。MTHFR基因突变不是土耳其黑海地区患者缺血性卒中形成的危险因素。