de la Red Gloria, Tàssies Dolores, Espinosa Gerard, Monteagudo Joan, Bové Albert, Plaza Joan, Cervera Ricard, Reverter Joan-Carles
Department of Hemotherapy and Hemostasis, Hospital Clinic, Villarroel 170, 08036 Barcelona, Catalonia, Spain.
Thromb Haemost. 2009 Feb;101(2):312-6.
Recent reports have described the factor XIII A subunit (FXIII-A) Val34Leu polymorphism as a protective factor against venous and arterial thrombosis. The aim of this study was to investigate the association between the FXIII-A Val34Leu polymorphism, its interaction with fibrinogen concentration, and thrombosis in patients with antiphospholipid antibodies (aPL). We included 172 consecutive patients with aPL: 88 with primary antiphospholipid syndrome (APS), 38 with APS associated with systemic lupus erythematosus (APS-SLE), 32 with SLE and aPL but without APS (SLE-aPL), and 14 asymptomatic individuals with aPL (A-aPL). The FXIII-A Val34Leu polymorphism was assessed by polymerase chain reaction techniques. We found no significant differences in FXIII-A Leu34 allele frequencies between primary APS (allele frequency 0.22), APS-SLE (0.23), SLE-aPL (0.22) and A-aPL (0.32) patients, or between patients with (0.21) and without thrombosis (0.26). FXIII-A Leu34 allele frequencies were significantly lower in patients with thrombosis and those in the upper fibrinogen tertile (>3.40 g/l) (allele frequency 0.07) compared with patients without thrombosis in the upper fibrinogen tertile (0.29) and patients with (0.29) and without (0.25) thrombosis in the mid- and lower fibrinogen tertiles. The FXIII-A Leu34 allele had a protective effect against thrombosis in patients in the upper fibrinogen tertile (odds ratio [OR] = 0.20, 95% confidence interval [CI] 0.07-0.60) but not in those in the other tertiles (OR = 1.20, 95% CI 0.67-2.16). The FXIII-A Leu34 allele seems to have a protective effect on the development of thrombosis in patients with aPL, but only in those with high plasma fibrinogen values.
近期报告称，凝血因子 XIII A 亚基（FXIII-A）Val34Leu 多态性是预防静脉和动脉血栓形成的保护因素。本研究旨在调查 FXIII-A Val34Leu 多态性、其与纤维蛋白原浓度的相互作用以及抗磷脂抗体（aPL）患者的血栓形成之间的关联。我们纳入了 172 例连续的 aPL 患者：88 例原发性抗磷脂综合征（APS）患者、38 例与系统性红斑狼疮相关的 APS（APS-SLE）患者、32 例患有 SLE 和 aPL 但无 APS 的患者（SLE-aPL）以及 14 例无症状 aPL 个体（A-aPL）。通过聚合酶链反应技术评估 FXIII-A Val34Leu 多态性。我们发现，原发性 APS 患者（等位基因频率 0.22）、APS-SLE 患者（0.23）、SLE-aPL 患者（0.22）和 A-aPL 患者（0.32）之间，以及有血栓形成的患者（0.21）和无血栓形成的患者（0.26）之间，FXIII-A Leu34 等位基因频率无显著差异。与纤维蛋白原水平处于上三分位数（>3.40 g/l）且无血栓形成的患者（0.29）以及纤维蛋白原水平处于中三分位数和下三分位数且有血栓形成（每组 0.29）和无血栓形成（每组 0.25）的患者相比，纤维蛋白原水平处于上三分位数且有血栓形成的患者中 FXIII-A Leu34 等位基因频率显著更低（等位基因频率 0.07）。FXIII-A Leu34 等位基因对纤维蛋白原水平处于上三分位数的患者的血栓形成具有保护作用（优势比[OR]=0.20，95%置信区间[CI]0.07 - 0.60），但对其他三分位数的患者无此作用（OR = 1.20，95%CI 0.67 - 2.16）。FXIII-A Leu34 等位基因似乎对 aPL 患者的血栓形成发展具有保护作用，但仅对血浆纤维蛋白原值高的患者有效。
