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New advances in genomics and epigenetics in antiphospholipid syndrome

López-Pedrera, Chary; Cerdó, Tomás; Jury, Elizabeth C; Muñoz-Barrera, Laura; Escudero-Contreras, Alejandro; Aguirre, MA; Pérez-Sánchez, Carlos; (2024) New advances in genomics and epigenetics in antiphospholipid syndrome. Rheumatology , 63 (SI) SI14-SI23. 10.1093/rheumatology/kead575. Green open access

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Abstract

APS patients exhibit a wide clinical heterogeneity in terms of the disease’s origin and progression. This diversity can be attributed to consistent aPL profiles and other genetic and acquired risk factors. Therefore, understanding the pathophysiology of APS requires the identification of specific molecular signatures that can explain the pro-atherosclerotic, pro-thrombotic and inflammatory states observed in this autoimmune disorder. In recent years, significant progress has been made in uncovering gene profiles and understanding the intricate epigenetic mechanisms and microRNA changes that regulate their expression. These advancements have highlighted the crucial role played by these regulators in influencing various clinical aspects of APS. This review delves into the recent advancements in genomic and epigenetic approaches used to uncover the mechanisms contributing to vascular and obstetric involvement in APS. Furthermore, we discuss the implementation of novel bioinformatics tools that facilitate the investigation of these mechanisms and pave the way for personalized medicine in APS.

Type: Article
Title: New advances in genomics and epigenetics in antiphospholipid syndrome
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/rheumatology/kead575
Publisher version: https://doi.org/10.1093/rheumatology/kead575
Language: English
Additional information: Copyright © The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com.
Keywords: antiphospholipid syndrome, transcriptomics, microRNA, epigenetics, bioinformatics
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: https://discovery.ucl.ac.uk/id/eprint/10187903
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