{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T13:44:59Z","timestamp":1776174299899,"version":"3.50.1"},"reference-count":53,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T00:00:00Z","timestamp":1589846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"The Deanship of Scientific Research, Northern Border University","award":["MED-2018-3-9-F-7821"],"award-info":[{"award-number":["MED-2018-3-9-F-7821"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Recently, unexpected autoimmune regulator (AIRE) implication in the scenario of several cancers, including breast cancer (BC), has emerged. This study aims to explore for the first time the possible association between <jats:italic>AIRE<\/jats:italic> gene rs2075876 G&gt;A variant and BC risk in a sample of the Middle East population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>In this case\u2010control study, we genotyped <jats:italic>AIRE<\/jats:italic> rs2075876 G&gt;A variant in 200 unrelated patients with BC and 340 cancer\u2010free controls using a real\u2010time allelic discrimination polymerase chain reaction. Odds ratios (ORs) and 95% confidence intervals (CIs) were applied to estimate the strength of association under several genetic models. In silico analysis of <jats:italic>AIRE<\/jats:italic> was also executed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The minor allele (A) frequency of the specified variant accounted for 0.28 in the controls. G\/G homozygote was significantly more frequent among patients (94%) compared to controls (66%) (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.001). After adjusting confounding variables, individuals with A allele conferred protection against developing BC under allelic model (OR\u00a0=\u00a00.33, 95% CI\u00a0=\u00a00.20\u20100.55), recessive model (OR\u00a0=\u00a00.25, 95% CI\u00a0=\u00a00.10\u20100.60), dominant model (OR\u00a0=\u00a00.12, 95% CI\u00a0=\u00a00.05\u20100.29), and homozygote comparison (OR\u00a0=\u00a00.20, 95% CI\u00a0=\u00a00.08\u20100.50). In silico analysis revealed AIRE enrichment in several cancer\u2010related pathways. Kaplan\u2010Meier plotter for the cancer databases showed association of <jats:italic>AIRE<\/jats:italic> expression with prognosis in triple\u2010negative BC (HR\u00a0=\u00a02.44, 95% CI\u00a0=\u00a01.44\u20104.15, log\u2010rank <jats:italic>P<\/jats:italic>\u2010value\u00a0&lt;\u00a0.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The <jats:italic>AIRE<\/jats:italic> rs2075876 G&gt;A variant showed association with BC risk in the study population. Further large\u2010scale replication studies in different ethnicity are warranted to confirm the findings.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23365","type":"journal-article","created":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T12:38:43Z","timestamp":1589891923000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Analysis of the autoimmune regulator (<i>AIRE<\/i>) gene variant rs2075876 (G\/A) association with breast cancer susceptibility"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1252-8403","authenticated-orcid":false,"given":"Manal S.","family":"Fawzy","sequence":"first","affiliation":[{"name":"Department of Biochemistry Faculty of Medicine Northern Border University Arar Saudi Arabia"},{"name":"Department of Medical Biochemistry and Molecular Biology Faculty of Medicine Suez Canal University Ismailia Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9267-3787","authenticated-orcid":false,"given":"Eman A.","family":"Toraih","sequence":"additional","affiliation":[{"name":"Department of Surgery School of Medicine Tulane University New Orleans Louisiana USA"},{"name":"Genetics Unit Department of Histology and Cell Biology Faculty of Medicine Suez Canal University Ismailia Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21492"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13045-019-0828-0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.25.9820"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mc.20639"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048031"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.01.025"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.02.013"},{"key":"e_1_2_7_9_1","first-page":"1","volume":"6","author":"Nagarajan D","year":"2018","journal-title":"Immune landscape of breast cancers. 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