Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus
RD SNVs were observed in a small proportion of cSLE and carriers of these RD SNVs had a PRS similar to healthy individuals, suggesting the importance of rare coding heterozygous variants in driving disease risk in a subset of children with SLE.
Authors
- Kerstin Lindblad‐Toh (ORCID: https://orcid.org/0000-0001-8338-0253)
- Andreas Jönsen (ORCID: https://orcid.org/0000-0002-4418-5786)
- Iva Gunnarsson (ORCID: https://orcid.org/0000-0002-4514-7706)
- Christopher Sjöwall (ORCID: https://orcid.org/0000-0003-0900-2048)
- Elisabet Svenungsson (ORCID: https://orcid.org/0000-0003-3396-3244)
- Lars Rönnblom (ORCID: https://orcid.org/0000-0001-9403-6503)
- Johanna K. Sandling (ORCID: https://orcid.org/0000-0003-1382-2321)
- Solbritt Rantapää‐Dahlqvist (ORCID: https://orcid.org/0000-0001-8259-3863)
- Maija‐Leena Eloranta (ORCID: https://orcid.org/0000-0002-8454-1351)
- Dag Leonard (ORCID: https://orcid.org/0000-0002-6275-7282)
- Anders Bengtsson (ORCID: https://orcid.org/0000-0001-7752-0432)
- Ahmed Sayadi
Institutions
- Linköping University (SE)
- Broad Institute (US)
- Uppsala University (SE)
- Karolinska University Hospital (SE)
- Lund University (SE)
- Karolinska Institutet (SE)
- Massachusetts Institute of Technology (US)
- Umeå University (SE)
Publication Details
- Journal
- Lupus Science & Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1136/lupus-2024-001436
- Citations
- 4
- Primary Topic
- Systemic Lupus Erythematosus Research
- Type
- article
- Field-Weighted Citation Impact
- 6.67
Funders
- Broad Institute
- Lunds Universitet
- Linköpings Universitet
- Karolinska Institutet
- Vetenskapsrådet
- Sveriges Lantbruksuniversitet
- Umeå Universitet
- Universitetet i Bergen
- Universitetet i Oslo
- Uppsala Universitet
- Svenska Läkaresällskapet
- Reumatikerförbundet
- Science for Life Laboratory