New Biomarkers for Atherothrombosis in Antiphospholipid Syndrome: Genomics and Epigenetics Approaches

Conclusions In recent years, there have been many advances in the understanding of the molecular basis for vascular involvement in APS, but many areas need to be further investigated, in particular the association between altered genetic/epigenetic profiles, autoantibodies and clinical manifestations, and the effectiveness of new therapeutic strategies. It would be interesting to apply next generation sequencing technologies like RNA-Seq along with GWAS to screen both, the gene profile and the whole transcriptome of large cohorts of primary APS patients, in order to reveal the mutations/polymorphisms, post-transcriptional modifications, and changes in the gene expression as compared to healthy controls, and their relationship with the risk of thrombosis. Additionally, epigenomic studies (DNA methylation, histones modifications and miRNA profiles) on patients with primary APS would help to identify and better characterize the regulatory mechanisms that influence the abnormal expression and activities of the genes contributing to inflammation, thrombosis and organ damage in primary APS. To date, a vast number of genetic and epigenetic biomarkers have been identified and probed to be specifically associated to the main clinical features of APS patients. Although no study has delineated which biomarkers could be considered as the most clearly associated with the highest risk of thrombosis, emerging studies are evaluating, by using bioinformatic analyses and based on a signific...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research

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