Genetic Complexity of SLE: A Retrospective Analysis of Gene Mutations and Clinical Correlations

Eser M., Hekimoglu G., Kasapçopur Ö., Sahin S., Akay N., SOZERİ B.

Medical records-international medical journal (Online), sa.1, ss.1-6, 2026 (TRDizin)

Özet

Aim: To investigate the genetic basis of systemic lupus erythematosus (SLE) by identifying pathogenic gene variants and examining their associations with distinct clinical and phenotypic manifestations, to improve understanding of disease heterogeneity and support the development of personalized therapeutic approaches. Material and Methods: In this retrospective study, gene mutations in the peripheral blood of 19 SLE patients were analyzed using next-generation sequencing. Results: The mutation rate and associated clinical symptoms for each gene mutation were observed. A mutation rate of 42% was discovered among the SLE patients. The study found that SLE is associated with multiple gene mutations, contributing to its complex clinical presentation. Specific gene mutations were associated with distinct clinical symptoms, such as glomerulonephritis and polyarthritis were linked to SOCS1 mutations. Scoliosis was associated with STAT1 mutations. A photosensitive malar rash was connected to complement mutations (C1qB, C1qC, and C3). An erythematous malar rash was related to PTPN22 mutations. Additionally, arthralgias were associated with TREX1 mutations. Conclusion: SLE is a multifaceted, multisystem autoimmune disease with symptom variability from different gene mutations. The study advocates patient-specific gene therapy by predicting gene mutations based on clinical symptoms and confirming these mutations through molecular tests.