Factor XIII Val34Leu Is a Genetic Factor Involved in the Aetiology of Venous Thrombosis
Factor XIII Val34Leu Is a Genetic Factor Involved in the Aetiology of Venous Thrombosis
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因子 XIII Val34Leu 是参与静脉血栓形成病因的遗传因子
DOI：
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发表时间：
1999
影响因子：
6.7
通讯作者：
Marco Antônio Zago
中科院分区：
文献类型：
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作者：
R. Franco;P. Reitsma;D. Lourenço;F. Maffei;V. Morelli;M. Tavella;Amelia G. Araujo;C. Piccinato;Marco Antônio Zago
摘要 最近有报道称，因子 XIII 基因 (FXIII Val34Leu) 基因的突变可提供预防心肌梗塞的保护作用，但其与静脉血栓形成的关系尚不清楚。此外，还发现了 FXII 基因 5'-非翻译区 (46 C→T) 的突变，该突变与该蛋白的低血浆水平有关。其在静脉血栓形成患者中的患病率尚不清楚。我们调查了 189 名深静脉血栓形成患者和 187 名年龄、性别和种族匹配的对照者中 FXIII Val34Leu 和 FXII 46 C→T 突变的频率。 38.6% 的患者和 41.2% 的对照者中检测到 FXIII Val34Leu。有趣的是，1.6% 的患者和 9.6% 的对照者发现 FXIII 突变纯合性，静脉血栓形成的比值比 (OR) 为 0.16（95% CI：0.05-0.5）。杂合子的 OR 为 1.1 (95% CI: 0.7-1.7)。 46.0% 的患者和 48.6% 的对照组检测到 FXII 46 C→T 突变。杂合子的 OR 为 0.9 (95% CI: 0.6-1.4)，纯合子的 OR 为 0.8 (95% CI: 0.3-1.9)。我们的数据表明 FXII 46 C→T 突变不太可能是静脉血栓性疾病的主要危险因素。相比之下，FXIII Val34Leu 的纯合状态是针对静脉血栓形成的强大保护因子，静脉血栓形成是涉及血栓形成倾向病因学的新型遗传因素。
Summary A mutation in the factor XIII gene (FXIII Val34Leu) gene was recently reported to confer protection against myocardial infarction, but its relationship with venous thrombosis is unknown. In addition, a mutation in the 5’-untranslated region of the FXII gene (46 C→T) was identified which is associated with low plasma levels of the protein. Its prevalence in patients with venous thrombosis is also unknown. We investigated the frequency of the FXIII Val34Leu and FXII 46 C→T mutations in 189 patients with deep venous thrombosis and in 187 age-, gender- and race-matched controls. FXIII Val34Leu was detected in 38.6% of the patients and in 41.2% of the controls. Interestingly, homozygosity for the FXIII mutation was found in 1.6% of the patients and in 9.6% of the controls, yielding an odds ratio (OR) for venous thrombosis of 0.16 (95% CI: 0.05-0.5). The OR for hetero-zygotes was 1.1 (95% CI: 0.7-1.7). The FXII 46 C→T mutation was detected in 46.0% of the patients and in 48.6% of the controls. The OR for heterozygotes was 0.9 (95% CI: 0.6-1.4) and for homozygotes the OR was 0.8 (95% CI: 0.3-1.9). Our data indicate that the FXII 46 C→T mutation is unlikely to be a major risk factor for venous thrombotic disease. In contrast, the homozygous state for FXIII Val34Leu is a strong protective factor against venous thrombosis, which emerges as a novel genetic factor involved in the aetiology of thrombophilia.