{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:36:41Z","timestamp":1792021001497,"version":"4.4.0"},"reference-count":50,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T00:00:00Z","timestamp":1739404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014653","name":"Manchester Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203308"],"award-info":[{"award-number":["NIHR203308"]}],"id":[{"id":"10.13039\/100014653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000066","name":"National Institute of Environmental Health Sciences","doi-asserted-by":"publisher","award":["Intramural Research Program"],"award-info":[{"award-number":["Intramural Research Program"]}],"id":[{"id":"10.13039\/100000066","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012041","name":"Versus Arthritis","doi-asserted-by":"publisher","award":["20380"],"award-info":[{"award-number":["20380"]}],"id":[{"id":"10.13039\/501100012041","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":[[2025,6]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Idiopathic inflammatory myopathies (IIMs, myositis) are rare systemic autoimmune disorders that lead to muscle inflammation, weakness, and extramuscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome\u2010wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome\u2010wide myositis studies and analyzed the largest myositis data set to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed association analyses on 14,903 individuals (3,206 patients and 11,697 controls) with genotypes and imputed data from the Trans\u2010Omics for Precision Medicine reference panel. Fine\u2010mapping and expression quantitative trait locus colocalization analyses in myositis\u2010relevant tissues indicated potential causal variants. Functional annotation and network analyses using the random walk with restart (RWR) algorithm explored underlying genetic networks and drug repurposing opportunities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Our analyses identified novel risk loci and susceptibility genes, such as\n                      <jats:italic>FCRLA, NFKB1<\/jats:italic>\n                      ,\n                      <jats:italic>IRF4<\/jats:italic>\n                      ,\n                      <jats:italic>DCAKD<\/jats:italic>\n                      , and\n                      <jats:italic>ATXN2<\/jats:italic>\n                      in overall IIMs;\n                      <jats:italic>NEMP2<\/jats:italic>\n                      in polymyositis;\n                      <jats:italic>ACBC11<\/jats:italic>\n                      in dermatomyositis; and\n                      <jats:italic>PSD3<\/jats:italic>\n                      in myositis with anti\u2013histidyl\u2013transfer RNA synthetase autoantibodies (anti\u2013Jo\u20101). We also characterized effects of HLA region variants and the role of\n                      <jats:italic>C4<\/jats:italic>\n                      . Colocalization analyses suggested putative causal variants in\n                      <jats:italic>DCAKD<\/jats:italic>\n                      in skin and muscle,\n                      <jats:italic>HCP5<\/jats:italic>\n                      in lung, and\n                      <jats:italic>IRF4<\/jats:italic>\n                      in Epstein\u2010Barr virus (EBV)\u2010transformed lymphocytes, lung, and whole blood. RWR further prioritized additional candidate genes, including\n                      <jats:italic>APP<\/jats:italic>\n                      ,\n                      <jats:italic>CD74<\/jats:italic>\n                      ,\n                      <jats:italic>CIITA<\/jats:italic>\n                      ,\n                      <jats:italic>NR1H4<\/jats:italic>\n                      , and\n                      <jats:italic>TXNIP<\/jats:italic>\n                      , for future investigation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study uncovers novel genetic regions contributing to IIMs, advancing our understanding of myositis pathogenesis and offering new insights for future research.<\/jats:p>\n                  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