{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:43:47Z","timestamp":1760111027808,"version":"build-2065373602"},"reference-count":70,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T00:00:00Z","timestamp":1718409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Medical School, University of P\u00e9cs","award":["KA-304516"],"award-info":[{"award-number":["KA-304516"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>Background: Rheumatoid arthritis (RA) is chronically persistent synovitis and systemic inflammation. Although multiple contributors are detected, only one is pivotal in the neonatal period: the negative selection of autoimmune na\u00efve T-cells by the autoimmune regulator (AIRE) transcriptional factor. Methods: Single-nucleotide polymorphisms (SNPs) in the DNA-binding site of AIRE may determine its function and expression. We intended to analyse site-specific allelic polymorphisms in two exon (rs878081 and rs1055311) and three intron (rs1003853, rs2075876, and rs1003854) loci with an RA risk. Our analytical case-control study analysed 270 RA patients and 322 control subjects in five different genetic models using quantitative real-time PCR (qPCR) with TaqMan\u00ae assays. Results: Statistically significant differences were found between the odds of allelic polymorphisms in the loci of rs878081, rs1003854, and rs1003853 among the controls and RA patients, and the disease activity seemed to be significantly associated with the genotypic subgroups of rs878081 and rs1055311. Our in silico analysis supported this, suggesting that allele-specific alterations in the binding affinity of transcriptional factor families might determine RA activity. Conclusion: Our findings highlight the involvement of neonatal self-tolerance in RA pathogenesis, providing novel insights into disease development and paving the way for an analysis of further site-specific genetic polymorphisms in AIRE to expand the intervention time for RA.<\/jats:p>","DOI":"10.3390\/biology13060439","type":"journal-article","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T08:48:31Z","timestamp":1718614111000},"page":"439","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Polymorphisms in Exon 5 and Intron 5 and 7 of AIRE Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9955-9901","authenticated-orcid":false,"given":"B\u00e1lint","family":"B\u00e9rczi","sequence":"first","affiliation":[{"name":"Department of Public Health Medicine, Medical School, University of P\u00e9cs, Szigeti \u00fat 12, 7624 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5276-4043","authenticated-orcid":false,"given":"N\u00f3ra","family":"Nusser","sequence":"additional","affiliation":[{"name":"Hark\u00e1ny Thermal Rehabilitation Centre, Zsigmondy S\u00e9t\u00e1ny 1, 7815 Hark\u00e1ny, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iv\u00e1n","family":"P\u00e9ter","sequence":"additional","affiliation":[{"name":"Hark\u00e1ny Thermal Rehabilitation Centre, Zsigmondy S\u00e9t\u00e1ny 1, 7815 Hark\u00e1ny, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4914-9872","authenticated-orcid":false,"given":"Bal\u00e1zs","family":"N\u00e9meth","sequence":"additional","affiliation":[{"name":"Department of Public Health Medicine, Medical School, University of P\u00e9cs, Szigeti \u00fat 12, 7624 P\u00e9cs, Hungary"},{"name":"Hark\u00e1ny Thermal Rehabilitation Centre, Zsigmondy S\u00e9t\u00e1ny 1, 7815 Hark\u00e1ny, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gota","family":"Kulisch","sequence":"additional","affiliation":[{"name":"St. Andrew Hospital for Rheumatology and Medicinal Spa of H\u00e9v\u00edz, Dr. Schulhof Vilmos S\u00e9t\u00e1ny. 1, 8380 H\u00e9v\u00edz, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsuzsanna","family":"Kiss","sequence":"additional","affiliation":[{"name":"St. Andrew Hospital for Rheumatology and Medicinal Spa of H\u00e9v\u00edz, Dr. Schulhof Vilmos S\u00e9t\u00e1ny. 1, 8380 H\u00e9v\u00edz, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9330-9119","authenticated-orcid":false,"given":"Zolt\u00e1n","family":"Gy\u00f6ngyi","sequence":"additional","affiliation":[{"name":"Department of Public Health Medicine, Medical School, University of P\u00e9cs, Szigeti \u00fat 12, 7624 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,15]]},"reference":[{"key":"ref_1","first-page":"591","article-title":"Global epidemiology of rheumatoid arthritis","volume":"18","author":"Finckh","year":"2022","journal-title":"Nat. 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