Trio Whole Exome Sequencing in Chinese Childhood‐Onset Lupus Reveals Novel Candidate Genes
Authors' conclusion
This study highlights the abundance of lupus-relevant rare gene variants in cSLE, supports frequent contribution of de novo variants to disease, and identifies genes that may constitute novel therapeutic targets of relevance to Chinese patients.
Study context
- Population
- Chinese trios with childhood-onset systemic lupus erythematosus (SLE) (cSLE)
- Participants
- 50 trios
- Outcome
- Rare variants in SLE-associated genes and de novo rare coding variants per proband (WES of cSLE trios)
Methodological detailstrio whole-exome sequencing, gene pathway and expression analysis, IFNβ luciferase assays
- Trio whole-exome sequencing
- Gene pathway and expression analysis
- IFNβ luciferase assays
Main finding
As reported in the abstract
- Each proband carried at least one rare variant in an SLE-associated gene; median per child
- 6
- Probands with monogenic disease (at least)
- 2
- Probands carrying novel or rare variants in genes accepted to cause monogenic SLE (ACP5, C3, C4A, C4B, DNASE1, IFIH1, NRAS, RNASEH2B, RNASEH2C, SAMHD1)
- one-third
- De novo rare coding variants per proband, median
- 1
- De novo variants in genes previously associated with SLE
- 2
- De novo variant genes enriched in top 20 SLE-related pathways and highly expressed in age-associated and plasma B cells
- 12 of the 50
- De novo variants in genes not previously linked to SLE or autoimmunity (DHX8, ACTR5) enhanced type I IFN signaling
- 2
Original publication
Trio Whole Exome Sequencing in Chinese Childhood‐Onset Lupus Reveals Novel Candidate Genes. Arthritis Rheumatol. Published 21 July 2025. doi:10.
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