Vitamin D in Primary Sjogren's Syndrome (pSS) and the Identification of Novel Single-Nucleotide Polymorphisms Involved in the Development of pSS-Associated Diseases

• Published in: Diagnostics (Basel) 2024-09, Vol.14 (18), p.2035
• Main Authors: Dabravolski, Siarhei A, Churov, Alexey V, Starodubtseva, Irina A, Beloyartsev, Dmitry F, Kovyanova, Tatiana I, Sukhorukov, Vasily N, Orekhov, Nikolay A
• Format: Article
• Language: English
• Subjects: Alfacalcidol; Antigens; Arthritis; Autoimmune diseases; Autoimmunity; B cells; Calcifediol; Cardiovascular diseases; Cell cycle; Cytokines; Development and progression; Disease; DNA methylation; Drug dosages; Exocrine glands; Fatigue; Females; Gene expression; Genes; Genetic aspects; Genetic screening; Genomes; Genomics; GWASs; Health aspects; Health risk assessment; Immune system; Inflammation; Interferon; Kinases; Lymphoma; Males; Non-Hodgkin's lymphomas; Pathogenesis; Review; Signal transduction; Single nucleotide polymorphisms; Sjögren’s syndrome; Tumor necrosis factor-TNF; Virus diseases; Vitamin D; Womens health; X chromosomes
• ISSN: 2075-4418; 2075-4418
• DOI: 10.3390/diagnostics14182035

Sjögren's syndrome (SS) is a chronic autoimmune disorder characterised by lymphocytic infiltration of the exocrine glands, which leads to dryness of the eyes and mouth; systemic manifestations such as arthritis, vasculitis, and interstitial lung disease; and increased risks of lymphoma and cardiovascular diseases. SS predominantly affects women, with a strong genetic component linked to sex chromosomes. Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated with primary SS (pSS), revealing insights into its pathogenesis. The adaptive and innate immune systems are crucial to SS's development, with viral infections implicated as environmental triggers that exacerbate autoimmune responses in genetically susceptible individuals. Moreover, recent research has highlighted the role of vitamin D in modulating immune responses in pSS patients, suggesting its potential therapeutic implications. In this review, we focus on the recently identified SNPs in genes like OAS1, NUDT15, LINC00243, TNXB, and THBS1, which have been associated with increased risks of developing more severe symptoms and other diseases such as fatigue, lymphoma, neuromyelitis optica spectrum disorder (NMOSD), dry eye syndrome (DES), and adverse drug reactions. Future studies should focus on larger, multi-ethnic cohorts with standardised protocols to validate findings and identify new associations. Integrating genetic testing into clinical practise holds promise for improving SS management and treatment strategies, enabling personalised interventions based on comprehensive genetic profiles. By focusing on specific SNPs, vitamin D, and their implications, future research can lead to more effective and personalised approaches for managing pSS and its complications.