Abstract Number: PB1059
Meeting: ISTH 2021 Congress
Background: Whether different manifestations of thrombotic antiphospholipid syndrome (APS) share pathological mechanisms has not been established. Transcriptome analysis may constitute a new approach to evaluate the mechanisms behind thrombotic manifestations in APS.
Aims: To determine in patients with primary thrombotic APS (t-PAPS) the expression of genes already related to venous and arterial thrombosis in the general population.
Methods: mRNA was obtained from total leucocyte and gene expression was measured by qPCR and the results were analyzed by QuantStudio™ Software.
|Table 2:||Fold-change in individual studies (FC)|
|Genes||Controls||t-PAPS with venous thrombosis||t-PAPS with arterial thrombosis||t-PAPS with simple thrombosis||t-PAPS with multiple thrombosis||t-PAPS non-triple positive||t-PAPS triple positive||Main biological process|
|Age at the diagnosis, median (IQR)||33 (24; 48)|
|Time elapsed since the last thrombotic event in months, median (IQR)||33.9 (11.6; 66.9)|
|Non-provoked thrombosis, n (%)||48 (57.8)|
|Site of the first thrombotic event:|
|Venous thrombosis, n (%)||61 (73.5)|
|Arterial thrombosis, n (%)||22 (26.5)|
|Multiple thromboses, n (%)||35 (42.2)|
|aPL triple positivity, n (%)||14 (16.8)|
83 t-PAPS and 85 controls were included. The median age at the enrollment day was 40 years-old (IQR 31 – 51) in patients and 38 (IQR 29 – 53) in controls, 66% of patients and controls were women and cardiovascular risk factors were more prevalent among t-PAPS than in controls (37% vs 11%). The clinical and laboratory features of t-PAPS patients are shown in Table 1. TXK (P<0.001), BACH2 (P=0.005) and SERPINB2 (P=0.003) mRNA expressions were down-regulated while TNFAIP6 mRNA expression was up-regulated (P=0.003) in t-PAPS when compared to controls. ANXA3 mRNA expression was similar between groups. In a subgroup analysis that considered different manifestations of t-PAPS, such as venous vs. arterial thrombosis, single vs. multiple thrombosis and non-triple positive vs. triple positive, we observed that the increase in TNFAIP6 mRNA expression was more pronounced in t-PAPS with recurrent thrombosis. Table 2 demonstrates the fold changes by t-PAPS subgroups.
Conclusions: In this study, we validated in t-PAPS the expression of genes previously associated with arterial and venous thrombosis in general population. Particularly, the main difference between t-PAPS and controls appeared in the expression of genes related to immune regulation. These genes were also associated with disease severity, such as multiple thrombosis and triple positivity. Our findings point towards an association between immune regulation and thrombosis in APS.
Acknowledgments: São Paulo Research Foundation FAPESP (2016/14172-6)
To cite this abstract in AMA style:Jacintho B, Mazetto B, Hounkpe B, Santos AP, Vaz C, Vechiatto G, Oliveira J, de Paula E, Orsi F. Evaluation of a Gene Signature Related to Thrombotic Manifestations in Antifospholipid Syndrome [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/evaluation-of-a-gene-signature-related-to-thrombotic-manifestations-in-antifospholipid-syndrome/. Accessed December 11, 2023.
« Back to ISTH 2021 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/evaluation-of-a-gene-signature-related-to-thrombotic-manifestations-in-antifospholipid-syndrome/