{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T09:01:07Z","timestamp":1772701267054,"version":"3.50.1"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T00:00:00Z","timestamp":1612310400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"GenDx Inc, Utrecht, The Netherlands"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,10]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>Beh\u00e7et disease is a multi-system disease associated with human leukocyte antigen (HLA) class I polymorphism. High-resolution next-generation sequencing (NGS) with haplotype analysis has not been performed previously for this disease. Sixty Egyptian patients diagnosed according to the International Study Group (ISG) criteria for Beh\u00e7et disease and 160 healthy geographic and ethnic-matched controls were genotyped for HLA class I loci (HLA-A, B, C). For HLA class II loci (DRB1, DRB3\/4\/5, DQA1, DQB1, DPA1, DPB1), 40 control samples were genotyped. High-resolution HLA genotyping was performed using NGS and the results were analyzed. Clinical manifestations were oral ulcers (100%), genital ulcers (100%), eye (55%) and neurological (28%) and vascular involvement (35%). HLA-B*51:08 [odds ratio (OR) = 19\u00b775, 95% confidence interval (CI) = 6\u00b75\u201379; P &amp;lt; 0\u00b70001], HLA-B*15:03 (OR = 12\u00b715, 95% CI = 3\u00b77\u201350\u00b77; P &amp;lt; 0\u00b70001), HLA-C*16:02 (OR = 6\u00b753, 95% CI = 3\u201314; P &amp;lt; 0\u00b70001), HLA-A*68:02 (OR = 3\u00b714, 95% CI = 1\u00b71\u20138\u00b79; P &amp;lt; 0\u00b701) were found to be associated with Beh\u00e7et disease, as were HLA-DRB1*13:01 and HLA-DQB1*06:03 (OR = 3\u00b739, 95% CI = 0\u00b79\u201318\u00b79; P = 0\u00b704 for both). By contrast, HLA-A*03:01 (OR = 0\u00b713, 95% CI = 0\u20130\u00b78; P = 0\u00b701) and HLA-DPB1*17:01 were found to be protective (OR = 0\u00b727, 95% CI = 0\u00b706\u20131\u00b703; P = 0\u00b702). We identified strong linkage disequilibrium between HLA-B*51:08 and C*16:02 and A*02:01 in a haplotype associated with Beh\u00e7et disease. HLA-B*51:08 was significantly associated with legal blindness (OR = 2\u00b798, 95% CI = 1\u00b706\u20138\u00b73; P = 0\u00b701). In Egyptian Beh\u00e7et patients, HLA-B*51:08 is the most common susceptibility allele and holds poor prognosis for eye involvement.<\/jats:p>","DOI":"10.1111\/cei.13571","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T01:39:42Z","timestamp":1610674782000},"page":"144-151","source":"Crossref","is-referenced-by-count":14,"title":["Beh\u00e7et disease, new insights in disease associations and manifestations: a next-generation sequencing study"],"prefix":"10.1093","volume":"204","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4795-8991","authenticated-orcid":false,"given":"M","family":"Elfishawi","sequence":"first","affiliation":[{"name":"Division of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Mossallam","sequence":"additional","affiliation":[{"name":"BMT Lab Unit, Clinical Pathology Deptartment, National Cancer Institute, Cairo University, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D G","family":"Augusto","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California San Francisco, San Francisco, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Montero-Martin","sequence":"additional","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Palo Alto, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"de Bruin","sequence":"additional","affiliation":[{"name":"GenDx, Utrecht, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Van de Pasch","sequence":"additional","affiliation":[{"name":"GenDx, Utrecht, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P J","family":"Norman","sequence":"additional","affiliation":[{"name":"Division of Personalized Medicine and Department of Immunology and Microbiology, University of Colorado School of Medicine, Denver, CO, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Rozemuller","sequence":"additional","affiliation":[{"name":"GenDx, Utrecht, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Fernandez-Vina","sequence":"additional","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Palo Alto, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Abrudescu","sequence":"additional","affiliation":[{"name":"Department of Medicine, New York City Health + Hospitals: Queens, Icahn School of Medicine at Mount Sinai, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Hollenbach","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California San Francisco, San Francisco, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Zaky","sequence":"additional","affiliation":[{"name":"Rheumatology and Rehabilitation, Faculty of Medicine, Al-Azhar University, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Elfishawi","sequence":"additional","affiliation":[{"name":"BMT Lab Unit, Clinical Pathology Deptartment, National Cancer Institute, Cairo University, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,2,3]]},"reference":[{"key":"2021121023211183600_cei13571-bib-0001","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1007\/s10157-013-0869-6","article-title":"Overview of the 2012 Revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides","volume":"17","author":"Jennette","year":"2013","journal-title":"Clin Exp 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