Immunogenetic Landscape of Secondary Sjögren’s Syndrome in Systemic Sclerosis and Lupus Erythematosus: Insights from Kazakhstan
Zaripova L. Baigenzhin A. Zhabakova Z. Boltanova A. Solomadin M. Krivoruchko N. Makimova D.
2025National Scientific Medical Center
Journal of Clinical Medicine of Kazakhstan
2025#22Issue 46 - 14 pp.
Introduction: Secondary Sjögren’s syndrome (sSS) frequently develops in patients systemic autoimmune diseases such as systemic lupus erythematosus (SLE) and systemic sclerosis (SSc). Nevertheless, its immunogenetic features remain poorly understood, particularly in underrepresented populations. Objective: To investigate the immunological and genetic characteristics of secondary Sjögren’s syndrome in Kazakh patients diagnosed with SSc and SLE. Methods: Patients diagnosed with sSS associated with SLE and SSc were enrolled in the study. SLEDAI-2K and the modified Rodnan skin score were measured, respectively. Antinuclear factor on HEp-2 cells was analyzed by indirect immunofluorescence; autoantibody profiles were determined by immunoblotting. Interleukin (IL)-6 levels were measured by ELISA. Whole-exome sequencing was performed using a targeted panel of autoimmune-related genes. Variants were analyzed and clustered using Ion Reporter software. Results: Antinuclear factor on Hep2 cells was positive in all SLE-sSS and 75% of SSc-sSS cases. SS-A/Ro60 and SS-A/Ro52 antibodies were frequently detected in both SLE-sSS and SSc-sSS patients, whereas SS-B antibodies were less common. Complement levels were mostly within normal ranges despite 2 SSc-sSS patients. One patient in the SSc group showed an elevated IL-6. Genetic analysis revealed likely pathogenic variants in SAMD9L, ABCC2, IL6ST, and TNFAIP3 in sSS patients. Conclusion: This study provides insight into the immunogenetic features of secondary Sjögren’s syndrome in Kazakh patients, suggesting overlapping genetic patterns in sSS among both SSc and SLE groups. Limitations include the small sample size and cross-sectional design, which limits generalizability, but provide a foundation for further larger-scale research integrating longitudinal follow-up and comprehensive genomic profiling.
Antibodies , Genetic Predisposition , Secondary Sjögren’s Syndrome , Systemic Lupus Erythematosus , Systemic Sclerosis
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Department of Scientific and Innovation Management, National Scientific Medical Center, Astana, Kazakhstan
Chairman of the Board, National Scientific Medical Center, Astana, Kazakhstan
Genetic Laboratory, National Scientific Medical Center, Astana, Kazakhstan
Central Research Laboratory, National Scientific Medical Center, Astana, Kazakhstan
Rheumathology Department, Mexel Health, Astana, Kazakhstan
Department of Internal Medicine No.4, Astana Medical University, Astana, Kazakhstan
Department of Scientific and Innovation Management
Chairman of the Board
Genetic Laboratory
Central Research Laboratory
Rheumathology Department
Department of Internal Medicine No.4
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