{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T17:57:07Z","timestamp":1790963827244,"version":"4.1.0"},"reference-count":50,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T00:00:00Z","timestamp":1733788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Romanian Operational Program for Competitiveness 2014\u20132020, Axis 1, under POC\/448\/1\/1 Research Infrastructure Projects for Public R&amp;D Institutions\/Universities \u201cMultidisciplinary Medical Research-Development Platform in the NE region \u201cCENEMED\u201d\u201d","award":["127606"],"award-info":[{"award-number":["127606"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology International"],"abstract":"<jats:p>Background: Several significant associations between certain Human Leukocyte Antigen (HLA) alleles and myasthenia gravis (MG) subtypes were established in populations from Western Europe and North America and, to a lesser extent, from China and Japan. However, such data are scarcely available for Eastern Europe. This study aimed to analyze the associations of HLA Class I and II alleles with MG and its serological subtypes (with anti-acetylcholine receptor autoantibodies, RAch+MG, and double-seronegative, dSNMG) in myasthenic patients of Romanian descent. Methods: We consecutively enrolled adult Romanian unrelated myasthenic patients, which were genotyped by next-generation sequencing for HLA-A, -B, -C, -DRB1 and -DQB1. The descent-matched controls were represented by two separate groups of random normal subjects genotyped for the main five HLA loci at the two-digit and four-digit levels, respectively, collected from the Allele Frequency Net Database. Results: A total of 40 patients (females: 80.00%; median age at onset: 42.5 years, range: 1\u201378; RAch+MG: 75.00%; dSNMG: 22.50%) were included. We were able to confirm previously acknowledged allelic associations: positive for HLA-B*08, DRB1*14:54 and DRB1*16:01 and negative for DRB1*13. However, we found some potential novel significant positive associations between MG and the HLA-A*02:36, B*47, B*73, B*44:27 and B*57:02 alleles. All alleles positively associated with MG remained significantly associated with RAch+MG, regardless of the patients\u2019 clinical and thymic heterogeneity. We found significant positive associations between dSNMG and the HLA-B*47, B*44:27 and DRB1*14:54 alleles that are shared with RAch+MG. Conclusions: These results suggest both distinct and common etiopathogenic mechanisms between dSNMG and RAch+MG. Our study pioneers allele associations in Romanian MG patients.<\/jats:p>","DOI":"10.3390\/neurolint16060130","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T12:22:06Z","timestamp":1733833326000},"page":"1819-1836","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["HLA Class I and II Alleles in Anti-Acetylcholine Receptor Antibodies Positive and Double-Seronegative Myasthenia Gravis Patients of Romanian Descent"],"prefix":"10.3390","volume":"16","author":[{"given":"Cristina Georgiana","family":"Croitoru","sequence":"first","affiliation":[{"name":"Neurology Clinic I, \u201cProf. Dr. Nicolae Oblu\u201d Emergency Clinical Hospital, 700309 Ia\u0219i, Romania"},{"name":"Department of Immunology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Constantinescu","sequence":"additional","affiliation":[{"name":"Department of Immunology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Ia\u0219i, Romania"},{"name":"Immunology Laboratory, \u201cSt. Spiridon\u201d Hospital, 700111 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2802-5993","authenticated-orcid":false,"given":"Mariana","family":"Pavel-Tanasa","sequence":"additional","affiliation":[{"name":"Department of Immunology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Ia\u0219i, Romania"},{"name":"Immunology Laboratory, \u201cSt. Spiridon\u201d Hospital, 700111 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan Iulian","family":"Cuciureanu","sequence":"additional","affiliation":[{"name":"Neurology Clinic I, \u201cProf. Dr. Nicolae Oblu\u201d Emergency Clinical Hospital, 700309 Ia\u0219i, Romania"},{"name":"Medical Department III-Neurology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corina Maria","family":"Cianga","sequence":"additional","affiliation":[{"name":"Department of Immunology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Ia\u0219i, Romania"},{"name":"Immunology Laboratory, \u201cSt. Spiridon\u201d Hospital, 700111 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana Nicoleta","family":"Hodorog","sequence":"additional","affiliation":[{"name":"Neurology Clinic I, \u201cProf. Dr. Nicolae Oblu\u201d Emergency Clinical Hospital, 700309 Ia\u0219i, Romania"},{"name":"Medical Department III-Neurology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5403-2265","authenticated-orcid":false,"given":"Petru","family":"Cianga","sequence":"additional","affiliation":[{"name":"Department of Immunology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Ia\u0219i, Romania"},{"name":"Immunology Laboratory, \u201cSt. Spiridon\u201d Hospital, 700111 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Dresser, L., Wodraska, R., Rezania, K., and Soliven, B. (2021). Myasthenia Gravis: Epidemiology, Pathophysiology and Clinical Manifestations. J. Clin. Med., 10.","DOI":"10.3390\/jcm10112235"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Borges, L.S., and Richman, D.P. (2020). Muscle-Specific Kinase Myasthenia Gravis. Front. Immunol., 11.","DOI":"10.3389\/fimmu.2020.00707"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2570","DOI":"10.1056\/NEJMra1602678","article-title":"Myastheia Gravis","volume":"375","author":"Gilhus","year":"2016","journal-title":"N. Engl. J. 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