biostudies-literatureBerczi BUniversity of Pécs Medical SchoolMedical School, University of Pécs439https://www.ebi.ac.uk/biostudies/studies/S-EPMC11200628biostudies-literatureUnknown13(6)<h4>Background</h4>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 naïve T-cells by the autoimmune regulator (AIRE) transcriptional factor.<h4>Methods</h4>Single-nucleotide polymorphisms (SNPs) in the DNA-binding site of <i>AIRE</i> 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^® assBiologyGenetic Polymorphisms in Exon 5 and Intron 5 and 7 of <i>AIRE</i> Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population.PMC11200628ÁOK-KA-304516KA-304516Kiss ZBerczi BNemeth BNusser NKulisch AGyongyi ZPeter IfalseGenetic Polymorphisms in Exon 5 and Intron 5 and 7 of <i>AIRE</i> Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population.<h4>Background</h4>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 naïve T-cells by the autoimmune regulator (AIRE) transcriptional factor.<h4>Methods</h4>Single-nucleotide polymorphisms (SNPs) in the DNA-binding site of <i>AIRE</i> 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^® ass2024-01-01T00:00:00Z2024 Jun2026-04-08T19:06:36.788Z2026-04-08T11:40:14.073ZS-EPMC112006283892731910.3390/biology13060439