{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:27:29Z","timestamp":1787243249049,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T00:00:00Z","timestamp":1748131200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T00:00:00Z","timestamp":1748131200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/Y011945\/1"],"award-info":[{"award-number":["MR\/Y011945\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016580","name":"Kennedy Trust for Rheumatology Research","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100016580","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014013","name":"UK Research and Innovation","doi-asserted-by":"publisher","award":["MR\/Y034325\/1"],"award-info":[{"award-number":["MR\/Y034325\/1"]}],"id":[{"id":"10.13039\/100014013","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Somatic mutations in\n                    <jats:italic>UBA1<\/jats:italic>\n                    are linked to VEXAS syndrome, a late\u2010onset inflammatory disorder with rheumatological and haematological features, primarily affecting elderly men. This study examines the epidemiology of VEXAS in the United Kingdom using genomic databases and patient cohorts to estimate prevalence, identify novel\n                    <jats:italic>UBA1<\/jats:italic>\n                    variants and predict their pathogenicity. Analysing data from the UK Biobank, 100\u2009000 Genomes Project and clinical diagnostic laboratories, we found that VEXAS prevalence in UK males over 50 is lower than in US\u2010based cohorts. Notably, canonical (Met41)\n                    <jats:italic>UBA1<\/jats:italic>\n                    mutations appear in ~1% of individuals with autoinflammatory disorders who have not been referred to haematology. However, among those investigated for myeloid malignancies, VEXAS is relatively common, with an estimated incidence of 1.51 per 100\u2009000, or 171 new cases each year. We identified 47\n                    <jats:italic>UBA1<\/jats:italic>\n                    non\u2010Met41 variants of uncertain significance, with several showing clonal dominance and clustering in functional domains, suggesting potential pathogenicity. Clinical presentation associated with non\u2010Met41 variants often diverged from classical VEXAS features, underscoring the need for further studies. Our findings highlight the importance of broader screening for both canonical and non\u2010canonical\n                    <jats:italic>UBA1<\/jats:italic>\n                    mutations to improve understanding of VEXAS syndrome and its underlying mechanisms.\n                  <\/jats:p>","DOI":"10.1111\/bjh.20176","type":"journal-article","created":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T00:25:57Z","timestamp":1748219157000},"page":"116-128","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mapping\n                    <scp>VEXAS<\/scp>\n                    \u2010associated and rare\n                    <scp>\n                      <i>UBA1<\/i>\n                    <\/scp>\n                    variants in the\n                    <scp>United Kingdom<\/scp>\n                    : Insights from patient cohorts and the general population"],"prefix":"10.1111","volume":"208","author":[{"given":"Ana","family":"Martinez Rodriguez","sequence":"first","affiliation":[{"name":"Leeds Institute of Rheumatic and Musculoskeletal Medicine University of Leeds  Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leon","family":"Chang","sequence":"additional","affiliation":[{"name":"Leeds Institute of Rheumatic and Musculoskeletal Medicine University of Leeds  Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Rowczenio","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1111-966X","authenticated-orcid":false,"given":"Alexandra","family":"Smith","sequence":"additional","affiliation":[{"name":"Epidemiology and Cancer Statistics Group, Department of Health Sciences University of York  York UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebun","family":"Omoyinmi","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Poulter","sequence":"additional","affiliation":[{"name":"Leeds Institute of Medical Research University of Leeds  Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"McGregor","sequence":"additional","affiliation":[{"name":"Department of Haematology Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Francis","sequence":"additional","affiliation":[{"name":"Department of Haematology Sheffield Teaching Hospitals NHS Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roochi","family":"Trikha","sequence":"additional","affiliation":[{"name":"Haematology Department King's College Hospital NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1535-8909","authenticated-orcid":false,"given":"Adam","family":"Al\u2010Hakim","sequence":"additional","affiliation":[{"name":"Leeds Institute of Rheumatic and Musculoskeletal Medicine University of Leeds  Leeds UK"},{"name":"Department of Clinical Immunology and Allergy St James's University Hospital  Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kar","family":"Lok Kong","sequence":"additional","affiliation":[{"name":"Synnovis, Laboratory for Molecular Haemato\u2010Oncology King's College Hospital NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David G.","family":"Kent","sequence":"additional","affiliation":[{"name":"Department of Biology, Centre for Blood Research York Biomedical Research Institute University of York  York UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Lachmann","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3180-3570","authenticated-orcid":false,"given":"Austin","family":"Kulasekararaj","sequence":"additional","affiliation":[{"name":"Haematology Department King's College Hospital NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Cargo","sequence":"additional","affiliation":[{"name":"Haematological Malignancy Diagnostic Service, St James's University Hospital  Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7910-0554","authenticated-orcid":false,"given":"Sinisa","family":"Savic","sequence":"additional","affiliation":[{"name":"Leeds Institute of Rheumatic and Musculoskeletal Medicine University of Leeds  Leeds UK"},{"name":"Department of Clinical Immunology and Allergy St James's University Hospital  Leeds UK"},{"name":"NIHR Leeds Biomedical Research Centre  Leeds 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