{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Berczi B"],"funding":["University of Pécs Medical School","Medical School, University of Pécs"],"pagination":["439"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11200628"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(6)"],"pubmed_abstract":["<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<sup>®</sup> ass"],"journal":["Biology"],"pubmed_title":["Genetic Polymorphisms in Exon 5 and Intron 5 and 7 of <i>AIRE</i> Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population."],"pmcid":["PMC11200628"],"funding_grant_id":["ÁOK-KA-304516","KA-304516"],"pubmed_authors":["Kiss Z","Berczi B","Nemeth B","Nusser N","Kulisch A","Gyongyi Z","Peter I"],"additional_accession":[]},"is_claimable":false,"name":"Genetic Polymorphisms in Exon 5 and Intron 5 and 7 of <i>AIRE</i> Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population.","description":"<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<sup>®</sup> ass","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jun","modification":"2026-04-08T19:06:36.788Z","creation":"2026-04-08T11:40:14.073Z"},"accession":"S-EPMC11200628","cross_references":{"pubmed":["38927319"],"doi":["10.3390/biology13060439"]}}