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Updated: May 14, 2026
09:43
Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
Published on: June 8, 2022
Genetic Polymorphisms in Systemic Lupus Erythematosus and Their Clinical Implications: A Narrative Review
Audrey Matilda Egan1, Nor Adzimah Johdi2, Elena Aisha Azizan1
1Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia (UKM), Cheras 56000, Kuala Lumpur, Malaysia.
International Journal of Molecular Sciences
|May 13, 2026
Summary
Genetic factors significantly influence systemic lupus erythematosus (SLE) heterogeneity, impacting disease progression and treatment response. Identifying these genetic variations aids in developing personalized medicine for SLE patients.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by significant clinical variability.
- Genetic diversity plays a crucial role in the immunological dysregulation, organ-specific manifestations, and varied responses to treatment observed in SLE patients.
Purpose of the Study:
- To review the current understanding of how genetic polymorphisms contribute to SLE pathogenesis, clinical heterogeneity, and therapeutic outcomes.
- To highlight key genetic risk factors and their association with specific SLE manifestations and treatment responses.
Main Methods:
- A narrative review of 60 publications from the last 12 years, sourced from PubMed, EBSCOhost, Web of Science, and Scopus.
- Analysis of genetic polymorphisms associated with SLE onset, progression, and clinical outcomes.
Main Results:
- The major histocompatibility complex (MHC) region is a primary genetic risk factor for SLE autoimmunity.
- Genetic variants in STAT4 and IRF5 are linked to chronic inflammation and clinical outcomes like renal and neuropsychiatric symptoms.
- Polymorphisms in HLA class II, TLR7, and FBN2 are associated with severe outcomes, including lupus nephritis (LN).
Conclusions:
- Genetic variations are critical in understanding SLE heterogeneity and predicting disease course.
- Advances in targeted therapies, including JAK/CDK inhibitors and immunomodulators, offer personalized treatment strategies.
- Identifying genetic risk variations is essential for developing improved predictive biomarkers and individualized SLE management.
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