Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

Morena‐Barrio, María Eugenia de la; Salloum-Asfar, Salam; Esteban, Julio; Morena-Barrio, Belén de la; Altisent, Carmen; Martín-Fernández, Laura; Guéguen, Paul; Padilla, José; Miñano, Antonia; Parra, Rafael; Vicente, Vicente; Vidal, Francisco; Bauduer, Frédéric; Carbonell, Pablo; Corral, Javier

doi:10.1182/blood.2019000055

Cited by 6 publications

(1 citation statement)

References 21 publications

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“…CONGFXIDEF: Patients diagnosed with congenital FXI deficiency carrying the same recurrent and founder defect in F11: p.Cys56Arg. These subjects were identified in a previous study of our group and are used as a control group for FXI deficiency [36].…”

Section: Study Subjectsmentioning

confidence: 99%

Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases

Pagán-Escribano,

Corral,

Miñano

et al. 2023

IJMS

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Antiphospholipid syndrome (APS) is a thromboinflammatory disorder caused by circulating antiphospholipid autoantibodies (aPL) and characterized by an increased risk of thrombotic events. The pathogenic mechanisms of these antibodies are complex and not fully understood, but disturbances in coagulation and fibrinolysis have been proposed to contribute to the thrombophilic state. This study aims to evaluate the role of an emerging hemostatic molecule, FXI, in the thrombotic risk of patients with aPL. Cross-sectional and observational study of 194 consecutive and unrelated cases with aPL recruited in a single center: 82 asymptomatic (AaPL) and 112 with primary antiphospholipid syndrome (APS). Clinical and epidemiological variables were collected. The profile of aPL was determined. Plasma FXI was evaluated by Western blotting and two coagulation assays (FXI:C). In cases with low FXI, molecular analysis of the F11 gene was performed. FXI:C levels were significantly higher in patients with APS than in patients with AaPL (122.8 ± 33.4 vs. 104.5 ± 27.5; p < 0.001). Multivariate analysis showed a significant association between symptomatic patients with aPL (APS) and high FXI (>150%) (OR = 11.57; 95% CI: 1.47–90.96; p = 0.020). In contrast, low FXI (<70%), mostly caused by inhibitors, was less frequent in the group of patients with APS compared to AaPL (OR = 0.17; 95%CI: 0.36–0.86; p = 0.032). This study suggests that FXI levels may play a causal role in the prothrombotic state induced by aPLs and holds the promise of complementary treatments in APS patients by targeting FXI.

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Section: Study Subjectsmentioning

confidence: 99%