[Application progress of high-throughput sequencing in antiphospholipid syndrome]

Area of Science:

• Immunology
• Genomics

Background:

• Antiphospholipid syndrome (APS) involves thrombosis and pregnancy complications, linked to antiphospholipid antibodies (aPL).
• Current diagnostic and prognostic methods relying solely on aPL levels are insufficient due to APS complexity and patient variability.
• Novel biomarkers are crucial for accurate APS assessment.

Approach:

• This review examines the application and progress of next-generation sequencing (NGS) technologies in APS research.
• NGS approaches cover genomic, transcriptomic, and epigenomic analyses relevant to APS.
• The focus is on leveraging NGS for identifying new screening markers and understanding disease mechanisms.

Key Points:

• NGS provides a multi-dimensional approach to APS biomarker discovery, moving beyond traditional serological markers.
• Genomic, transcriptomic, and epigenomic data generated by NGS can elucidate the complex pathogenesis of APS.
• The review highlights the potential of NGS in improving diagnostic accuracy, prognosis prediction, and risk stratification in APS patients.

Conclusions:

• NGS technology holds significant promise for advancing APS research by uncovering novel biomarkers and deepening our understanding of its pathogenesis.
• Integrating NGS into APS research is essential for overcoming the limitations of current diagnostic and prognostic tools.
• Further exploration of NGS applications will aid in developing more effective management strategies for antiphospholipid syndrome.