Frontiers in Genetics (Mar 2024)

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

  • Nicholas Kim-Wah Yeo,
  • Nicholas Kim-Wah Yeo,
  • Che Kang Lim,
  • Che Kang Lim,
  • Katherine Nay Yaung,
  • Katherine Nay Yaung,
  • Nicholas Kim Huat Khoo,
  • Thaschawee Arkachaisri,
  • Thaschawee Arkachaisri,
  • Thaschawee Arkachaisri,
  • Salvatore Albani,
  • Salvatore Albani,
  • Salvatore Albani,
  • Joo Guan Yeo,
  • Joo Guan Yeo,
  • Joo Guan Yeo

DOI
https://doi.org/10.3389/fgene.2024.1341272
Journal volume & issue
Vol. 15

Abstract

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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.

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