{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T14:06:24Z","timestamp":1782914784934,"version":"3.54.5"},"reference-count":127,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T00:00:00Z","timestamp":1726185600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["24-65-00027"],"award-info":[{"award-number":["24-65-00027"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Sj\u00f6gren\u2019s 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\u2019s 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.<\/jats:p>","DOI":"10.3390\/diagnostics14182035","type":"journal-article","created":{"date-parts":[[2024,9,16]],"date-time":"2024-09-16T04:14:07Z","timestamp":1726460047000},"page":"2035","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Vitamin D in Primary Sjogren\u2019s Syndrome (pSS) and the Identification of Novel Single-Nucleotide Polymorphisms Involved in the Development of pSS-Associated Diseases"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0547-6310","authenticated-orcid":false,"given":"Siarhei A.","family":"Dabravolski","sequence":"first","affiliation":[{"name":"Department of Biotechnology Engineering, Braude Academic College of Engineering, Snunit 51, Karmiel 2161002, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3920-7581","authenticated-orcid":false,"given":"Alexey V.","family":"Churov","sequence":"additional","affiliation":[{"name":"Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, 125315 Moscow, Russia"},{"name":"Institute on Aging Research, Russian Gerontology Clinical Research Center, Pirogov Russian National Research Medical University, 16 1st Leonova Street, 129226 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4665-2966","authenticated-orcid":false,"given":"Irina A.","family":"Starodubtseva","sequence":"additional","affiliation":[{"name":"Department of Polyclinic Therapy, NN Burdenko Voronezh State Medical University, 10 Studencheskaya Street, 394036 Voronezh, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7808-3454","authenticated-orcid":false,"given":"Dmitry F.","family":"Beloyartsev","sequence":"additional","affiliation":[{"name":"Vascular Surgery Department, A. V. Vishnevsky National Medical Research Center of Surgery, 27 Bolshaya Serpukhovskaya Street, 117997 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana I.","family":"Kovyanova","sequence":"additional","affiliation":[{"name":"Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, 125315 Moscow, Russia"},{"name":"Institute for Atherosclerosis Research, Osennyaya Street 4-1-207, 121609 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0312-3773","authenticated-orcid":false,"given":"Vasily N.","family":"Sukhorukov","sequence":"additional","affiliation":[{"name":"Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, 125315 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolay A.","family":"Orekhov","sequence":"additional","affiliation":[{"name":"Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, 125315 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1056\/NEJMcp1702514","article-title":"Primary Sj\u00f6gren\u2019s Syndrome","volume":"378","author":"Mariette","year":"2018","journal-title":"N. 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