ArticleOpen access rheumatology : research and reviews2026
Genetic Sequencing in Saudi Patients with Systemic Lupus Erythematosus.
Article in Open access rheumatology : research and reviews, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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Abstract
Objective: To identify novel candidate gene variants and investigate their role in a cohort of Saudi patients with Systemic Lupus Erythematosus (SLE). In addition, evaluate their distribution relative to common risk loci identified in the NHGRI-EBI GWAS Catalog. Methods: Whole Exome Sequencing (WES) was performed on the extracted genomic DNA for 29 patients with confirmed SLE. Descriptive analyses were used to summarize the patients' characteristics. Variant prioritization was initiated through a manual clinical interpretation according to ACMG guidelines, followed by a multi-step filtering pipeline to identify rare, high-impact candidates (gnomAD MAF < 1%, CADD > 20). The statistical analysis was conducted using R software R version 4.4.2 and several specialised packages. Results: The analysis revealed an exploratory "multi-hit" genetic landscape. Notable candidate variants were identified in genes related to DNA damage response ( Conclusion: This study highlights the presence of rare, candidate variants in a Saudi SLE cohort that are distinct from common GWAS-identified loci. These findings suggest that SLE clinical heterogeneity may be influenced by specific genetic endotypes. Our observations open the door for a preliminary roadmap for precision medicine and the identification of potentially treatment-refractory patients.
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