Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus
Patients with cSLE from this ancestrally and geographically diverse cohort are enriched for common cSLE risk variants compared with controls, and 11% carry a rare variant in known monogenic SLE risk genes. The relationship between rare and common risk variant burden is more complex than previously hypothesised. Our findings indicate that studying patients with cSLE is important for understanding genetic contributions to SLE pathogenesis.
Authors
- Linda T. Hiraki (ORCID: https://orcid.org/0000-0002-6690-8148)
- Clifton L. Dalgard (ORCID: https://orcid.org/0000-0003-2025-8239)
- Mariana J. Kaplan (ORCID: https://orcid.org/0000-0003-2968-0815)
- Ana Barrera‐Vargas (ORCID: https://orcid.org/0000-0002-1754-0500)
- Ivona Aksentijevich (ORCID: https://orcid.org/0000-0002-6564-7214)
- Diana Gómez‐Martín (ORCID: https://orcid.org/0000-0002-1807-0045)
- Sarfaraz Hasni (ORCID: https://orcid.org/0000-0002-4164-8837)
- Anthony M. Musolf (ORCID: https://orcid.org/0000-0002-7290-483X)
- Earl D. Silverman (ORCID: https://orcid.org/0000-0002-9841-3799)
- Subrata Paul (ORCID: https://orcid.org/0000-0002-4482-3338)
- Christiaan Scott (ORCID: https://orcid.org/0000-0003-3874-1704)
- Jaime García de Tena (ORCID: https://orcid.org/0000-0001-5674-551X)
- Daniel Hupalo (ORCID: https://orcid.org/0000-0001-7816-2948)
- Massimo Gadina (ORCID: https://orcid.org/0000-0001-9084-6736)
- Laura B. Lewandowski (ORCID: https://orcid.org/0000-0002-4253-2545)
- Michael J. Ombrello (ORCID: https://orcid.org/0000-0003-3322-4089)
- Shajia Lu
- Zuoming Deng
Institutions
- National Institutes of Health (US)
- Uniformed Services University of the Health Sciences (US)
- University of Cape Town (ZA)
- Hospital for Sick Children (CA)
- Office of Science (US)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (US)
- National Human Genome Research Institute (US)
- Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (MX)
- Institute of Bioinformatics (IN)
- Red Cross War Memorial Children's Hospital (ZA)
Publication Details
- Journal
- Lupus Science & Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1136/lupus-2024-001475
- Citations
- 3
- Primary Topic
- Systemic Lupus Erythematosus Research
- Type
- article
- Field-Weighted Citation Impact
- 5.00
Funders
- National Human Genome Research Institute
- National Institute of Arthritis and Musculoskeletal and Skin Diseases