Renner W, Brodmann M, Pabst E, Stanger O, Wascher T C, Pilger E
Department of Medicine, Division of Angiology, Karl Franzens University, Graz, Austria.
Int Angiol. 2002 Mar;21(1):53-7.
Factor XIII catalyzes crosslinking of fibrin in the last steps of the coagulation process. A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a decreased risk for coronary artery disease, cerebrovascular disease, and deep venous thrombosis.
To analyze the role of this polymorphism in peripheral arterial disease (PAD) we performed a case-control study including 873 patients with documented PAD and a total of 523 controls without vascular disease. The F13A1 genotype was determined by an allele-specific polymerase chain reaction.
Genotype distribution and allele frequencies were not significantly different between patients (VV: 51.9%; VL: 40.7%; LL: 7.4%) and controls (VV: 54.7%; VL: 39.2%; LL: 6.1%). Mean age at onset of the disease was significantly higher in LL homozygous subjects than in VV homozygous subjects (67.3 versus 64.1 years, p=0.017). Heterozygous subjects had an intermediate age at onset (65.1 years), suggesting a gene-dose effect. The association of the L34 variant with onset of PAD remained significant after adjustment for other risk factors. The effect was stronger in men than in women.
We conclude that the F13A1 V34L polymorphism was not associated with the presence of PAD in our study, but may be linked to a later onset of the disease.
凝血因子 XIII 在凝血过程的最后步骤中催化纤维蛋白交联。凝血因子 XIII A 亚基基因(F13A1 V34L)中的一种常见多态性与冠状动脉疾病、脑血管疾病和深静脉血栓形成的风险降低有关。
为了分析这种多态性在周围动脉疾病(PAD)中的作用,我们进行了一项病例对照研究,纳入了 873 例有记录的 PAD 患者和总共 523 例无血管疾病的对照。通过等位基因特异性聚合酶链反应确定 F13A1 基因型。
患者(VV:51.9%;VL:40.7%;LL:7.4%)和对照(VV:54.7%;VL:39.2%;LL:6.1%)之间的基因型分布和等位基因频率无显著差异。LL 纯合子受试者疾病发病的平均年龄显著高于 VV 纯合子受试者(67.3 岁对 64.1 岁,p = 0.017)。杂合子受试者发病年龄处于中间水平(65.1 岁),提示存在基因剂量效应。在调整其他危险因素后,L34 变体与 PAD 发病的关联仍然显著。男性的效应比女性更强。
我们得出结论,在我们的研究中,F13A1 V34L 多态性与 PAD 的存在无关,但可能与疾病的较晚发病有关。