{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T10:39:31Z","timestamp":1783593571167,"version":"3.55.0"},"reference-count":41,"publisher":"Korean Diabetes Association","issue":"6","license":[{"start":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T00:00:00Z","timestamp":1621814400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004263","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado do Rio Grande do Sul","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundo de Incentivo \u00e0 Pesquisa e Eventos at Hospital de Cl\u00ednicas de Porto Alegre","award":["2018-0051"],"award-info":[{"award-number":["2018-0051"]}]}],"content-domain":{"domain":["e-dmj.org"],"crossmark-restriction":true},"short-container-title":["Diabetes Metab J"],"published-print":{"date-parts":[[2021,11,30]]},"abstract":"<jats:p>Background: Tyrosine kinase 2 (TYK2) is a candidate gene for type 1 diabetes mellitus (T1DM) since it plays an important role in regulating apoptotic and pro-inflammatory pathways in pancreatic \u03b2-cells through modulation of the type I interferon signaling pathway. The rs2304256 single nucleotide polymorphism (SNP) in TYK2 gene has been associated with protection for different autoimmune diseases. However, to date, only two studies have evaluated the association between this SNP and T1DM, with discordant results. This study thus aimed to investigate the association between the TYK2 rs2304256 SNP and T1DM in a Southern Brazilian population.Methods: This case-control study comprised 478 patients with T1DM and 518 non-diabetic subjects. The rs2304256 (C\/A) SNP was genotyped by real-time polymerase chain reaction technique using TaqMan minor groove binder (MGB) probes.Results: Genotype and allele frequencies of the rs2304256 SNP differed between T1DM patients and non-diabetic subjects (P&lt;0.0001 and P=0.001, respectively). Furthermore, the A allele was associated with protection against T1DM under recessive (odds ratio [OR], 0.482; 95% confidence interval [CI], 0.288 to 0.806) and additive (OR, 0.470; 95% CI, 0.278 to 0.794) inheritance models, adjusting for human leukocyte antigen (HLA) DR\/DQ genotypes, gender, and ethnicity.Conclusion: The A\/A genotype of TYK2 rs2304256 SNP is associated with protection against T1DM in a Southern Brazilian population.<\/jats:p>","DOI":"10.4093\/dmj.2020.0194","type":"journal-article","created":{"date-parts":[[2021,7,6]],"date-time":"2021-07-06T07:41:55Z","timestamp":1625557315000},"page":"899-908","update-policy":"https:\/\/doi.org\/10.4093\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus"],"prefix":"10.4093","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7829-9407","authenticated-orcid":true,"given":"Felipe Mateus","family":"Pellenz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristine","family":"Dieter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilherme Coutinho Kullmann","family":"Duarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00eds Henrique","family":"Canani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca Marmontel de","family":"Souza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5095-9269","authenticated-orcid":true,"given":"Daisy","family":"Crispim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2567","reference":[{"key":"ref1","first-page":"S13","volume-title":"Classification and diagnosis of diabetes: standards of medical care in diabetes-2019","year":"2019"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12597"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2009.21"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2018.06.002"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(16)30582-7"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-014-3362-1"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.148221"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.2337\/db15-0362"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002552"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.2337\/db11-1263"},{"key":"ref11","first-page":"71","volume-title":"Candidate genes for type 1 diabetes modulate pancreatic islet inflammation and \u03b2-cell apoptosis","author":"Santin","year":"2013"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1042\/bj20140712"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.2741\/3908"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7748"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aag1974"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1177\/0961203316638933"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-010-0601-5"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/ng.493"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2015.05.004"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2007.11.008"},{"key":"ref21","first-page":"581","volume-title":"STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement","author":"Little","year":"2009"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0083451"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1530\/eje-13-0963"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.19.5444"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1007\/s00592-017-1009-7"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.2337\/db12-1398"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyi169"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2007.12.011"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2013.10.004"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2770"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-016-4201-3"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3245"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2017.08.012"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0216-7"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1002\/dmrr.3075"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00535"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/5293981"},{"key":"ref38","first-page":"171","volume-title":"Biologic agents and small-molecule inhibitors in systemic autoimmune conditions: an update","author":"Prieto-Pena","year":"2021"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(18)31363-1"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14403"},{"key":"ref41","first-page":"45","volume-title":"PCR-based detection methods for single-nucleotide polymorphism or mutation: real-time PCR and its substantial contribution toward technological refinement","author":"Matsuda","year":"2017"}],"container-title":["Diabetes &amp; Metabolism Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-dmj.org\/upload\/pdf\/dmj-2020-0194.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-dmj.org\/journal\/view.php?doi=10.4093\/dmj.2020.0194","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-dmj.org\/upload\/pdf\/dmj-2020-0194.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T21:44:57Z","timestamp":1645739097000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-dmj.org\/journal\/view.php?doi=10.4093\/dmj.2020.0194"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,30]]},"references-count":41,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,11]]}},"URL":"https:\/\/doi.org\/10.4093\/dmj.2020.0194","relation":{},"ISSN":["2233-6079","2233-6087"],"issn-type":[{"value":"2233-6079","type":"print"},{"value":"2233-6087","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,30]]},"assertion":[{"value":"2020-08-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-24","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-30","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}