{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:48:23Z","timestamp":1787028503683,"version":"build-2736575974"},"reference-count":45,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,3,5]],"date-time":"2023-03-05T00:00:00Z","timestamp":1677974400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>This study aimed to assess the possible association between two single nucleotide polymorphisms (SNPs) of the autoimmune regulator (AIRE) gene (rs2075876 G\/A and rs760426 A\/G) with the risk of primary immune thrombocytopenia (ITP), as well as AIRE serum levels, in the Egyptian population. In this case-control study, 96 cases with primary ITP and 100 healthy subjects were included. Two SNPs of the AIRE gene (rs2075876 G\/A and rs760426 A\/G) were genotyped via Taqman allele discrimination real-time polymerase chain reaction (PCR). Additionally, serum AIRE levels were measured using the enzyme-linked immunosorbent assay (ELISA) technique. After adjusting for age, gender, and family history of ITP, the AIRE rs2075876 AA genotype and A allele were associated with increased ITP risk (adjusted odds ratio (aOR): 4.299, p = 0.008; aOR: 1.847, p = 0.004, respectively). Furthermore, there was no significant association between AIRE rs760426 A\/G different genetic models and ITP risk. A linkage disequilibrium revealed that A-A haplotypes were associated with an increased ITP risk (aOR: 1.821, p = 0.020). Serum AIRE levels were found to be significantly lower in the ITP group, positively correlated with platelet counts, and were even lower in the AIRE rs2075876 AA genotype and A allele, as well as A-G and A-A haplotype carriers (all p &lt; 0.001). The AIRE rs2075876 genetic variants (AA genotype and A allele) and A-A haplotype are associated with an increased ITP risk in the Egyptian population and lower serum AIRE levels, whereas the SNP rs760426 A\/G is not.<\/jats:p>","DOI":"10.3390\/ijms24055007","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T03:49:08Z","timestamp":1678074548000},"page":"5007","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0621-4291","authenticated-orcid":false,"given":"Muhammad T.","family":"Abdel Ghafar","sequence":"first","affiliation":[{"name":"Department of Clinical Pathology, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ola A.","family":"Elshora","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alzahraa A.","family":"Allam","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raghda Gabr","family":"Mashaal","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shereen Awny Abdelsalam","family":"Hamous","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah Ragab","family":"Abd El-Khalik","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rania Nagi","family":"Abd-Ellatif","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reham A.","family":"Mariah","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radwa","family":"Eissa","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Mwafy","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasha E.","family":"Shalaby","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"},{"name":"Department of Basic Medical Sciences, Faculty of Medicine, Galala University, Galala 43511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham","family":"Nasif","sequence":"additional","affiliation":[{"name":"Department of Physiology, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6538-6598","authenticated-orcid":false,"given":"Rasha A.","family":"Elkholy","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Faculty of Medicine, Tanta University, Tanta 31511, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1634\/theoncologist.2008-0132","article-title":"Chronic idiopathic thrombocytopenic purpura: Mechanisms of pathogenesis","volume":"14","author":"Gernsheimer","year":"2009","journal-title":"Oncologist"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1182\/blood.V126.23.73.73","article-title":"Genes Influencing the Development and Severity of Chronic ITP Identified through Whole Exome Sequencing","volume":"126","author":"Despotovic","year":"2015","journal-title":"Blood"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1016\/j.autrev.2017.04.012","article-title":"Pathogenesis of immune thrombocytopenia","volume":"16","author":"Audia","year":"2017","journal-title":"Autoimmun. 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