Investigation of the pathogenic variants induced Sjogren’s syndrome in Turkish population

Abstract

Background - Sjögren’s syndrome (SS) is a chronic autoimmune disorder primarily affecting the exocrine glands, leading to symptoms such as dry eyes and mouth, joint pain, fever, and neurological complications. The etiology of SS involves a complex interplay of hormonal, immune, environmental, and genetic factors. Previous studies have identified associations between SS susceptibility and polymorphisms in genes such as HLA-II, STAT4, BAFF, and TNIP1. However, these associations have not been explored in the Turkish population. Objective - This study aimed to investigate the association between four specific single nucleotide polymorphisms (SNPs) – rs1130380, rs7574865, rs9514828, and rs17728338 – and susceptibility to SS in a Turkish cohort. Methods: A total of 115 SS patients and 40 healthy controls were recruited from Turkey. Genomic DNA was extracted, and genotyping of the four selected SNPs was performed using the polymerase chain reaction – restriction fragment length polymorphism method. Genotypic and allelic distributions were compared between the patient and control groups. Results - Significant associations were found between the analyzed polymorphisms and SS susceptibility. Additionally, allele frequency comparisons with global datasets revealed that the risk alleles occur at higher frequencies in the Turkish population compared to European, American, and Asian populations, indicating a potential population-specific genetic predisposition. Conclusion - These findings suggest that the SNPs rs1130380, rs7574865, rs9514828, and rs17728338 may contribute to SS susceptibility in the Turkish population. This preliminary evidence supports the need for larger, population-based studies to further elucidate the genetic underpinnings of SS in Turkey.