Investigation of the Pathogenic Variants Induced Sjogren’s Syndrome in Turkish Population

Abstract

Abstract Sjögren’s syndrome is a chronic autoimmune disorder of unspecified etiology implicating exocrine glands. SS patients illustrate dry eyes and mouth, joint pain, fever and neurological symptoms. Hormones, immune dysregulation, and environmental and genetic factors play the primary roles in the development of the disease. Previous studies reported that HLA-II, STAT4, BAFF and TINIP1 polymorphisms have a pivotal role in SS development, however, the variant on each gene has not been investigated in the Turkish population. Therefore, this study aims to identify and evaluate the association between four variants of the four mentioned genes above and the development of Sjögren's syndrome. This study recruited 40 healthy subjects and 115 patients with Sjögren's syndrome in a Turkish population. All genomic variants were detected using the PCR-RFLP technique. We observed that SNP rs1130380, rs7574865, rs9514828, and rs17728338 were associated with SS development. We herein highlighted that the subjects with 1/2 or 2/2 Allele (%) had a higher susceptibility to SS development than those with the 1/1 Allele. Furthermore, the allele frequency of each variant was then assessed in multiple continents, including African, American, European, and Asian cohorts. Interestingly, our data shows that upregulating variants are at higher frequencies compared to European American and Asian populations, which implies that Turkish populations might be relatively susceptible to SS development related to these variants. The results indicated that all variants were significantly associated with the development of the SS disease in the Turkish population.