Abstract
Introduction
The precise nature of dermatomyositis (DM) and systemic lupus erythematosus (SLE) is not yet fully understood, although it is recognized that various genetic, hormonal or external factors play a significant role in the onset of autoimmune processes. This study aims to explore the link between two specific genetic variants of the oncostatin M receptor (OSMR) – rs2278329 (Asp553Asn) and rs2292016 (-100G/T) – and the predisposition to DM and SLE in Bulgarian patients.
Materials and methods
A total of 126 individuals were included in the study – 62 patients with SLE, 64 with DM, and 95 healthy unrelated controls. Genotyping was performed using TaqMan assays.
Results
The analysis revealed that the minor allele frequency was low. None of the genetic variants investigated showed any significant correlation with SLE, DM, or clinical characteristics associated with these conditions.
Conclusions
Our findings suggest that none of the OSMR genetic variants investigated pose a significant risk for the development of dermatomyositis or systemic lupus erythematosus in Bulgarian patients.