{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T20:52:05Z","timestamp":1788382325737,"version":"build-2803163510"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,11,9]],"date-time":"2015-11-09T00:00:00Z","timestamp":1447027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Development of Innovative Test in the Area of Genetics Based on the NGS Technology","award":["UDA-POIG.01.04.00-30-027\/12-00"],"award-info":[{"award-number":["UDA-POIG.01.04.00-30-027\/12-00"]}]},{"name":"European Union under the European Regional Development Fund - Activity 1.4"},{"name":"Innovative Economy Operational Program"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["HLA"],"published-print":{"date-parts":[[2016,1]]},"abstract":"Abstract<\/jats:title>Mixed connective tissue disease (MCTD<\/jats:styled-content>) is a systemic autoimmune disease, originally defined as a connective tissue inflammatory syndrome with overlapping features of systemic lupus erythematosus (SLE<\/jats:styled-content>), rheumatoid arthritis (RA<\/jats:styled-content>), polymyositis\/dermatomyositis (PM<\/jats:styled-content>\/DM<\/jats:styled-content>) and systemic sclerosis (SSc<\/jats:styled-content>), characterized by the presence of antibodies against components of the U1<\/jats:styled-content> small nuclear ribonucleoprotein (U1snRNP<\/jats:styled-content>). The aim of the study was to assess the frequency of (high\u2010resolution\u2010typed) DRB1<\/jats:styled-content> alleles in a cohort of Polish patients with MCTD<\/jats:styled-content> (n<\/jats:italic> = 103). Identification of the variants potentially associated with risk and protection was carried out by comparison with the DKMS<\/jats:styled-content> Polish Bone Marrow Donor Registry (41306 alleles). DRB1<\/jats:styled-content>*15:01<\/jats:italic> (odds ratio (OR<\/jats:styled-content>): 6.06; 95% confidence interval (CI<\/jats:styled-content>) 4.55\u20138.06), DRB1<\/jats:styled-content>*04<\/jats:italic> (OR<\/jats:styled-content>: 3.69; 95% CI<\/jats:styled-content> 2.69\u20135.01) and *09:01<\/jats:italic> (OR<\/jats:styled-content>: 8.12; 95% CI<\/jats:styled-content> 2.15\u201321.75) were identified as risk alleles for MCTD<\/jats:styled-content>, while HLA\u2010DRB1<\/jats:styled-content>*07:01<\/jats:italic> allele was found to be protective (OR<\/jats:styled-content>: 0.50; 95% CI<\/jats:styled-content> 0.28\u20130.83). The carrier frequency of the DRB1<\/jats:styled-content>*01<\/jats:italic> was higher in MCTD<\/jats:styled-content> patients compared with controls, although the differences were not statistically significant. Our results confirm the modulating influence of HLA\u2010DRB1<\/jats:styled-content> genotypes on development of connective tissue diseases such as MCTD<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/tan.12698","type":"journal-article","created":{"date-parts":[[2015,11,9]],"date-time":"2015-11-09T10:42:53Z","timestamp":1447065773000},"page":"13-18","source":"Crossref","is-referenced-by-count":23,"title":["Association of HLA\u2010DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients"],"prefix":"10.1111","volume":"87","author":[{"given":"A.","family":"Paradowska\u2010Gorycka","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology National Institute of Geriatrics, Rheumatology and Rehabilitation Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Stypi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology National Institute of Geriatrics, Rheumatology and Rehabilitation Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Olesi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Connective Tissue Diseases National Institute of Geriatrics, Rheumatology and Rehabilitation Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Felis\u2010Giemza","sequence":"additional","affiliation":[{"name":"Department of Connective Tissue Diseases National Institute of Geriatrics, Rheumatology and Rehabilitation Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ma\u0144czak","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Health Promotion National Institute of Geriatrics, Rheumatology and Rehabilitation Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Czuszynska","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Connective Tissue Disease and Geriatrics Medical University of Gdansk Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Zdrojewski","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Connective Tissue Disease and Geriatrics Medical University of Gdansk Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Wojciechowicz","sequence":"additional","affiliation":[{"name":"DNA Research Center Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Jurkowska","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology National Institute of Geriatrics, Rheumatology and Rehabilitation Warsaw 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