Ozyurek Emel, Balta Gunay, Degerliyurt Aydan, Parlak Hülya, Aysun Sabiha, Gürgey Aytemiz
Institute of Child Health and Section of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Clin Appl Thromb Hemost. 2007 Apr;13(2):154-60. doi: 10.1177/1076029606298988.
The aim of this study was to evaluate the significance of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and plasminogen activator inhibitor-1 (PAI-1) 4G/5G genotypes in development of childhood cerebral thrombosis (CT). A total of 113 Turkish children with CT were studied and compared with the control group. The carrier frequency of the factor V G1691A mutation was found to be significantly higher in the patient group (17.7%) than controls (7.4%). The presence of this genotype was associated with a 2.7-fold increased risk of developing CT (95% confidence interval [CI], 1.0-7.0). The prevalence of prothrombin G20210A mutation in 110 patients (4.5%) was insignificantly higher than controls (2.3%) (odds ratio, 2.0; 95% CI, 0.4-10.7). A statistically significant increase in the frequency of homozygous MTHFR C677T genotype was observed in 62 patients (11.3%) compared to controls (4.3%), and this genotype was associated with 2.8-fold increased CT risk (95% CI, 1.0-8.0). The incidence of PAI-1 4G/4G genotype in 65 patients (21.5%) was slightly lower than that of controls (26.0%), but the differences did not reach statistical significance (odds ratio, 0.8; 95% CI, 0.4-1.5). The results of this study suggested that factor V G1691A and MTHFR C677T genotypes may be associated with an increased risk of developing CT in Turkish children.
本研究旨在评估凝血因子V（FV）G1691A、凝血酶原G20210A、亚甲基四氢叶酸还原酶（MTHFR）C677T以及纤溶酶原激活物抑制剂-1（PAI-1）4G/5G基因型在儿童脑血栓形成（CT）发病中的意义。共对113名患CT的土耳其儿童进行了研究，并与对照组进行比较。发现患者组中凝血因子V G1691A突变的携带频率（17.7%）显著高于对照组（7.4%）。该基因型的存在与发生CT的风险增加2.7倍相关（95%置信区间[CI]，1.0 - 7.0）。110例患者中凝血酶原G20210A突变的患病率（4.5%）略高于对照组（2.3%），但差异无统计学意义（比值比，2.0；95% CI，0.4 - 10.7）。与对照组（4.3%）相比，62例患者（11.3%）中纯合MTHFR C677T基因型的频率有统计学意义的增加，且该基因型与CT风险增加2.8倍相关（95% CI，1.0 - 8.0）。65例患者（21.5%）中PAI-1 4G/4G基因型的发生率略低于对照组（26.0%），但差异未达到统计学意义（比值比，0.8；95% CI，0.4 - 1.5）。本研究结果表明，凝血因子V G1691A和MTHFR C677T基因型可能与土耳其儿童发生CT的风险增加有关。
