Lupus & antiphospholipid syndrome
Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus
Authors' conclusion
In a cohort of patients with suspected monogenic lupus who underwent genome-wide sequencing, 13% carried rare predicted damaging variants for monogenic lupus.
Study context
- Population
- Children suspected of monogenic lupus (systemic lupus erythematosus (SLE)); 80% female, mean age at diagnosis 8.9 (SD 3.2) years69 with WGS
- Participants
- 71 children
- Exposure
- Predicted damaging variant vs No predicted damaging variant
- Predicted damaging variantn = 9
- Outcome
- Prevalence of rare variants in known monogenic lupus genes
Methodological detailspaired-end genome-wide sequencing (WGS or whole exome sequencing), 36 monogenic lupus genes, multivariate logistic models adjusted for sex, ancestry and age of diagnosis
- Paired-end genome-wide sequencing (WGS or whole exome sequencing)
- 36 monogenic lupus genes
- Multivariate logistic models adjusted for sex, ancestry and age of diagnosis
Main finding
As reported in the abstract
Predicted damaging variants in monogenic lupus genes
Predicted damaging variant
13%
9
Observational data: associations, not effects.
Further findings
Age at diagnosis · significantly younger at diagnosis
P = 0.01
Damaging copy number variants (CNVs) (WGS)
- No damaging CNVs identified
Non-HLA or HLA SLE genetic risk scores (GRSs) and odds of carrying ≥ 1 rare variant
- No significant association in multivariate analyses
Original publication
Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus. J Rheumatol. Published 15 November 2022. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →