{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:06:05Z","timestamp":1790280365055,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T00:00:00Z","timestamp":1566864000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Immunology Research"],"published-print":{"date-parts":[[2019,8,27]]},"abstract":"<jats:p>Autoimmune diseases (AIDs) are complex diseases characterized by persistent or recurrent inflammation, alteration of immune response, and production of specific autoantibodies. It is known that different AIDs share several susceptibility genetic loci. Tumor necrosis factor alpha inducible protein 3 (TNFAIP3) encodes the ubiquitin-modifying enzyme A20, which downregulates inflammation by restricting NF-<jats:italic>\u03ba<\/jats:italic>B, a transcription factor that regulates expression of various proinflammatory genes. Variants in <jats:italic>TNFAIP3<\/jats:italic> gene have been described as associated with susceptibility to several AIDs. Here, we analyzed two <jats:italic>TNFAIP3<\/jats:italic> polymorphisms in Italian patients with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and primary Sjogren\u2019s syndrome (pSS), to verify if the genetic variability of <jats:italic>TNFAIP3<\/jats:italic> gene is involved in genetic predisposition to AIDs also in the Italian population. We recruited 313 SLE patients, 256 RA patients, 195 pSS patients, and 236 healthy controls. Genotyping of rs2230926 and rs6920220 in <jats:italic>TNFAIP3<\/jats:italic> gene was performed by an allelic discrimination assay. We carried out a case\/control association study and a genotype\/phenotype correlation analysis. A higher risk to develop SLE was observed for rs2230926 (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.02<\/mml:mn><\/mml:math>, <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mtext>OR<\/mml:mtext><mml:mo>=<\/mml:mo><mml:mn>1.92<\/mml:mn><\/mml:math>). No association was observed between this SNP and the susceptibility to pSS or RA. However, the rs2230926 variant allele seems to confer a higher risk to develop lymphoma in pSS patients, while in RA patients, the presence of RF resulted significantly associated with the variant allele. Regarding the rs6920220 SNP, we observed a significant association of the variant allele with SLE (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.03<\/mml:mn><\/mml:math>, <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mtext>OR<\/mml:mtext><mml:mo>=<\/mml:mo><mml:mn>1.53<\/mml:mn><\/mml:math>), pSS (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M5\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.016<\/mml:mn><\/mml:math>, <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M6\"><mml:mtext>OR<\/mml:mtext><mml:mo>=<\/mml:mo><mml:mn>1.69<\/mml:mn><\/mml:math>), and RA (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M7\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.0001<\/mml:mn><\/mml:math>, <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M8\"><mml:mtext>OR<\/mml:mtext><mml:mo>=<\/mml:mo><mml:mn>2.35<\/mml:mn><\/mml:math>) susceptibility. Furthermore, SLE patients carrying the variant allele showed a higher risk to develop pericarditis, pleurisy, and kidney complications. Our results support the importance of the <jats:italic>TNFAIP3<\/jats:italic> gene variant role in the development of different autoimmune diseases in the Italian population and furtherly confirm a sharing of genetic predisposing factors among these three pathologies.<\/jats:p>","DOI":"10.1155\/2019\/6728694","type":"journal-article","created":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T19:31:06Z","timestamp":1566934266000},"page":"1-6","source":"Crossref","is-referenced-by-count":50,"title":["TNFAIP3 Gene Polymorphisms in Three Common Autoimmune Diseases: Systemic Lupus Erythematosus, Rheumatoid Arthritis, and Primary Sjogren Syndrome\u2014Association with Disease Susceptibility and Clinical Phenotypes in Italian Patients"],"prefix":"10.1155","volume":"2019","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3995-7032","authenticated-orcid":true,"given":"C.","family":"Ciccacci","sequence":"first","affiliation":[{"name":"UniCamillus, Saint Camillus International University of Health Sciences, Rome, Italy"},{"name":"Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Latini","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4771-6981","authenticated-orcid":true,"given":"C.","family":"Perricone","sequence":"additional","affiliation":[{"name":"UOC Reumatologia, Dipartimento di Medicina Interna e Specialit\u00e0 Mediche, Sapienza Universit\u00e0 di Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Conigliaro","sequence":"additional","affiliation":[{"name":"Clinic of Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Colafrancesco","sequence":"additional","affiliation":[{"name":"UOC Reumatologia, Dipartimento di Medicina Interna e Specialit\u00e0 Mediche, Sapienza Universit\u00e0 di Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5026-8783","authenticated-orcid":true,"given":"F.","family":"Ceccarelli","sequence":"additional","affiliation":[{"name":"UOC Reumatologia, Dipartimento di Medicina Interna e Specialit\u00e0 Mediche, Sapienza Universit\u00e0 di Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Priori","sequence":"additional","affiliation":[{"name":"UOC Reumatologia, Dipartimento di Medicina Interna e Specialit\u00e0 Mediche, Sapienza Universit\u00e0 di Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1897-049X","authenticated-orcid":true,"given":"F.","family":"Conti","sequence":"additional","affiliation":[{"name":"UOC Reumatologia, Dipartimento di Medicina Interna e Specialit\u00e0 Mediche, Sapienza Universit\u00e0 di Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Perricone","sequence":"additional","affiliation":[{"name":"Clinic of Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Borgiani","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05911"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.81"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2792"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/art.40040"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1186\/s13075-018-1604-1"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.16500"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1007\/s11926-017-0695-z"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/j.rdc.2017.04.009"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2017.04.018"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002406"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt248"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101787"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1038\/ng.200"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1002\/art.27190"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1002\/art.33318"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1016\/j.it.2013.10.005"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3459"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1080\/14397595.2016.1232331"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12831"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1177\/0961203318776108"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/7682827"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2010.64"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1111\/sji.12101"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.15265"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.05.062"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2016-210715"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2016.03.003"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2015-207731"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.2003699"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1007\/s11882-008-0077-8"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0111991"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0110044"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1002\/art.24618"}],"container-title":["Journal of Immunology Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/jir\/2019\/6728694.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/jir\/2019\/6728694.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/jir\/2019\/6728694.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T19:31:10Z","timestamp":1566934270000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/jir\/2019\/6728694\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,27]]},"references-count":33,"alternative-id":["6728694","6728694"],"URL":"https:\/\/doi.org\/10.1155\/2019\/6728694","relation":{},"ISSN":["2314-8861","2314-7156"],"issn-type":[{"value":"2314-8861","type":"print"},{"value":"2314-7156","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,27]]}}}