{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T12:37:44Z","timestamp":1784810264464,"version":"3.55.0"},"reference-count":27,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100005440","name":"Center for Scientific Review","doi-asserted-by":"publisher","award":["R01NS113803"],"award-info":[{"award-number":["R01NS113803"]}],"id":[{"id":"10.13039\/100005440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Mult Scler"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Tumefactive demyelination (TD) is a rare variant of multiple sclerosis (MS) characterized by tumor-like lesions that often require aggressive management. Genome-wide association studies (GWAS) identified variants associated with MS; similar analyses in TD are lacking.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>A GWAS was performed to identify variants associated with TD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      The case\u2013control study included 142 TD cases and 293 controls. TD patients were required to have a demyelinating event and magnetic resonance imaging (MRI) showing one or more lesions. Controls were patients without a neurologic or systemic inflammatory disease or cancer. Logistic regression was used to compare cases versus controls for each variant; age, sex, and principal components were included as covariates. A\n                      <jats:italic>p<\/jats:italic>\n                      -value threshold of 5\u2009\u00d7\u200910\n                      <jats:sup>\u22128<\/jats:sup>\n                      was GWAS significant and 5\u2009\u00d7\u200910\n                      <jats:sup>\u22126<\/jats:sup>\n                      nominally significant. A polygenic risk score (PRS) was compared across TD and controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Variants on chromosome 14 (rs117797734,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20092.06\u2009\u00d7\u200910\n                      <jats:sup>\u221211<\/jats:sup>\n                      , odds ratio (OR)\u2009=\u200913.14) and chromosome 6 (most significant rs6936540,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20095.5\u2009\u00d7\u200910\n                      <jats:sup>\u22127<\/jats:sup>\n                      , OR\u2009=\u20092.61) near\n                      <jats:italic>DCBLD1<\/jats:italic>\n                      were significant. Seven non-MHC and two MHC variants associated with MS were associated with TD. The PRS was significantly higher in TD versus controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We identified novel regions associated with TD, demonstrating the importance of performing GWAS in homogeneous subtypes of MS. Further validation and functional experiments are necessary.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/13524585251371984","type":"journal-article","created":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T09:32:59Z","timestamp":1757323979000},"page":"1167-1174","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Genomewide association study of a homogeneous multiple sclerosis cohort: Tumefactive demyelination"],"prefix":"10.1177","volume":"31","author":[{"given":"Hannah H","family":"Zhao-Fleming","sequence":"first","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A","family":"Decker","sequence":"additional","affiliation":[{"name":"Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew L","family":"Kosel","sequence":"additional","affiliation":[{"name":"Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen L","family":"Drucker","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Kollmeyer","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel H","family":"Lachance","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin D","family":"Clarkson","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles L","family":"Howe","sequence":"additional","affiliation":[{"name":"Mayo Clinic Center for Multiple Sclerosis and Autoimmune Neurology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Jenkins","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8141-2394","authenticated-orcid":false,"given":"W Oliver","family":"Tobin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Rochester, MN, USA; Mayo Clinic Center for Multiple Sclerosis and Autoimmune Neurology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6113-1114","authenticated-orcid":false,"given":"Jeanette","family":"Eckel-Passow","sequence":"additional","affiliation":[{"name":"Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,9,8]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073493"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature10251"},{"issue":"6460","key":"e_1_3_2_4_2","article-title":"Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility","volume":"365","author":"International Multiple Sclerosis Genetics C","year":"2019","unstructured":"International Multiple Sclerosis Genetics C. Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. Science 2019; 365(6460): eaav7188.","journal-title":"Science"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn388"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.17"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06250-x"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51844"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15182"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.abj2890"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1177\/1352458517742980"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","unstructured":"Zeng L Atlas K Lama T et al. GWAS highlights the neuronal contribution to multiple sclerosis susceptibility. medRxiv. Epub ahead of print 5 December 2024. DOI: 10.1101\/2024.12.04.24318500.","DOI":"10.1101\/2024.12.04.24318500"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(22)00431-8"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13046-024-02943-x"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2022.939344"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-92090-6"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.21873\/anticanres.15297"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines8120599"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.3390\/curroncol31090407"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.modpat.2023.100294"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.868525"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.20.23226"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12604"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2009.05.004"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1885"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.11.002"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.breast.2023.01.003"}],"container-title":["Multiple Sclerosis Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585251371984","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/13524585251371984","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585251371984","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:19:30Z","timestamp":1777695570000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/13524585251371984"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":27,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1177\/13524585251371984"],"URL":"https:\/\/doi.org\/10.1177\/13524585251371984","relation":{},"ISSN":["1352-4585","1477-0970"],"issn-type":[{"value":"1352-4585","type":"print"},{"value":"1477-0970","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]}}}