{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T12:07:55Z","timestamp":1785931675992,"version":"3.56.0"},"reference-count":47,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["R01 AR070148"],"award-info":[{"award-number":["R01 AR070148"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["acrjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Arthritis &amp; Rheumatology"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Beh\u00e7et\u2019s disease is a complex systemic inflammatory vasculitis of incompletely understood etiology. This study was undertaken to investigate genetic associations with Beh\u00e7et\u2019s disease in a diverse multiethnic population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 9,444 patients and controls from 7 different populations were included in this study. Genotyping was performed using an Infinium ImmunoArray\u201024 v.1.0 or v.2.0 BeadChip. Analysis of expression data from stimulated monocytes, and epigenetic and chromatin interaction analyses were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 2 novel genetic susceptibility loci for Beh\u00e7et\u2019s disease, including a risk locus in <jats:italic>IFNGR1<\/jats:italic> (rs4896243) (odds ratio [OR] 1.25; <jats:italic>P<\/jats:italic> = 2.42 \u00d7 10<jats:sup>\u22129<\/jats:sup>) and within the intergenic region <jats:italic>LNCAROD\/DKK1<\/jats:italic> (rs1660760) (OR 0.78; <jats:italic>P<\/jats:italic> = 2.75 \u00d7 10<jats:sup>\u22128<\/jats:sup>). The risk variants in <jats:italic>IFNGR1<\/jats:italic> significantly increased <jats:italic>IFNGR1<\/jats:italic> messenger RNA expression in lipopolysaccharide\u2010stimulated monocytes. In addition, our results replicated the association (<jats:italic>P<\/jats:italic> &lt; 5 \u00d7 10<jats:sup>\u22128<\/jats:sup>) of 6 previously identified susceptibility loci in Beh\u00e7et\u2019s disease: <jats:italic>IL10<\/jats:italic>, <jats:italic>IL23R<\/jats:italic>, <jats:italic>IL12A\u2010AS1<\/jats:italic>, <jats:italic>CCR3<\/jats:italic>, <jats:italic>ADO<\/jats:italic>, and <jats:italic>LACC1<\/jats:italic>, reinforcing the notion that these loci are strong genetic factors in Beh\u00e7et\u2019s disease shared across ancestries. We also identified &gt;30 genetic susceptibility loci with a suggestive level of association (<jats:italic>P<\/jats:italic> &lt; 5 \u00d7 10<jats:sup>\u22125<\/jats:sup>), which will require replication. Finally, functional annotation of genetic susceptibility loci in Beh\u00e7et\u2019s disease revealed their possible regulatory roles and suggested potential causal genes and molecular mechanisms that could be further investigated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We performed the largest genetic association study in Beh\u00e7et\u2019s disease to date. Our findings reveal novel putative functional variants associated with the disease and replicate and extend the genetic associations in other loci across multiple ancestries.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.41637","type":"journal-article","created":{"date-parts":[[2021,1,4]],"date-time":"2021-01-04T09:17:35Z","timestamp":1609751855000},"page":"1244-1252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Genetic Association of a Gain\u2010of\u2010Function <i>IFNGR1<\/i> Polymorphism and the Intergenic Region <i>LNCAROD\/DKK1<\/i> With Beh\u00e7et\u2019s Disease"],"prefix":"10.1002","volume":"73","author":[{"given":"Lourdes","family":"Ortiz Fern\u00e1ndez","sequence":"first","affiliation":[{"name":"University of Pittsburgh  Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Coit","sequence":"additional","affiliation":[{"name":"University of Pittsburgh 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