Daijiworld Media Network - Mumbai

Mumbai, Nov 7: Recent research has shown that genetic risk factors in systemic lupus erythematosus (SLE) can influence the emergence of specific clinical features, shedding light on disease heterogeneity and potential personalized care approaches. Investigators analyzed population and clinical datasets, aligning public biobank records with the 11 American College of Rheumatology 1982 (ACR-82) classification criteria. They examined whether higher inherited susceptibility increased the likelihood of relevant manifestations, using data from over 218,000 individuals and modeling the cumulative effect of 57 known SLE risk variants. The observations were validated in a clinical cohort of 1,487 genotyped Scandinavian patients with detailed phenotyping. Manifestation-specific genetic risk scores were developed and tested against corresponding clinical features using logistic regression.

The analysis found significant associations between cumulative SLE risk variants and several clinical manifestations. In the biobank, links were observed with rosacea, polyarthropathies, pleural effusions, and hemolytic anemia. In the clinical cohort, arthritis, renal disorder, neurologic disorder, hematologic disorder, and immunologic disorder showed notable associations, with immunologic disorder displaying the strongest link. These findings indicate that known risk variants contribute to at least half of the canonical SLE criteria, connecting inherited susceptibility to distinct clinical sub-phenotypes.

The study suggests that genetic risk scores in lupus could guide patient counseling, surveillance priorities, and research stratification by sub-phenotype. Integrating genetic information with serologic markers and clinical predictors may enhance precision care. While further validation across diverse populations is required, these results provide insights into SLE heterogeneity and support the use of genetics as a complementary tool alongside established criteria and standard monitoring.