Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus

Front Genet. 2024 Mar 4:15:1341272. doi: 10.3389/fgene.2024.1341272. eCollection 2024.

Abstract

Early-onset systemic lupus erythematosus presents with a more severe disease and is associated with a greater genetic burden, especially in patients from Black, Asian or Hispanic ancestries. Next-generation sequencing techniques, notably whole exome sequencing, have been extensively used in genomic interrogation studies to identify causal disease variants that are increasingly implicated in the development of autoimmunity. This Review discusses the known casual variants of polygenic and monogenic systemic lupus erythematosus and its implications under certain genetic disparities while suggesting an age-based sequencing strategy to aid in clinical diagnostics and patient management for improved patient care.

Keywords: copy number variation; genomics; monogenic; next-generation sequencing; systemic lupus erythematosus; whole exome sequencing.

Publication types

  • Review

Grants and funding

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This research is supported by the Singapore Ministry of Health’s National Medical Research Council (NMRC) under its Centre Grant Programme (MOH-000988) and other NMRC grants: CSAINV22jul-0008 (JY), CIRG21nov-0031 (JY), NMRC/MOHIAFCAT2/005/2015 (SA), NMRC/TCR/0015-NCC/2016 (SA), NMRC/OFLCG/002/2018 (SA) and CIRG19may0052 (SA), is gratefully acknowledged. We also gratefully acknowledge the SingHealth Duke-NUS Academic Medicine Grant, Special Category (PRISM, AM/PRM002/2018).