{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T19:24:07Z","timestamp":1785785047101,"version":"3.56.0"},"reference-count":23,"publisher":"American Society of Hematology","issue":"19","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,5,8]]},"abstract":"<jats:sec>\n                  <jats:title>Abstract<\/jats:title>\n                  <jats:p>Although described more than a decade ago, the mechanism by which the JAK2 46\/1 haplotype increases the risk of developing JAK2-mutated myeloproliferative neoplasms (MPNs) remains unexplained. Inflammation and immunity are linked to MPN development and thus could be relevant to the mechanism by which 46\/1 mediates its effect. Here, we show that programmed death-1 receptor ligand (PD-L1) expression is elevated in 46\/1 haplotype, both in healthy carriers and in CD34+ cells from patients with MPN. Using circular chromosome conformation capture, we observed that PD-L1 and the neighboring PD-L2 loci physically interact with JAK2 in a manner that differs between 46\/1 and nonrisk haplotypes. CRISPR\/Cas9 genome editing identified a region within JAK2 intron 2 that influences both JAK2 and PD-L1 expression. We suggest that increased PD-L1 expression may be relevant to the mechanism by which 46\/1 leads to an increased inherited risk of developing MPN.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1182\/blood.2023023787","type":"journal-article","created":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T21:13:51Z","timestamp":1738962831000},"page":"2196-2201","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":5,"title":["The <i>JAK2<\/i> 46\/1 haplotype influences PD-L1 expression"],"prefix":"10.1182","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9570-5542","authenticated-orcid":false,"given":"Gonzalo","family":"Carre\u00f1o-Tarragona","sequence":"first","affiliation":[{"name":"1Hematology Department, Hospital Universitario 12 de Octubre, I+12, Centro Nacional de Investigaciones Oncol\u00f3gicas, Complutense University, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Oncolog\u00eda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0678-1154","authenticated-orcid":false,"given":"Mar\u00eda","family":"Tiana","sequence":"additional","affiliation":[{"name":"2Tissue and Organ Homeostasis Program, Centro de Biolog\u00eda Molecular Severo Ochoa, Centro Superior de Investigaciones Cient\u00edficas-Universidad Aut\u00f3noma de Madrid, Madrid, Spain"},{"name":"3Department of Biotechnology, Facultad de Ciencias Experimentales, Universidad Francisco de Vitoria, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0657-0704","authenticated-orcid":false,"given":"Raquel","family":"Rouco","sequence":"additional","affiliation":[{"name":"4Functional Genomics Group, Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"Leivas","sequence":"additional","affiliation":[{"name":"1Hematology Department, Hospital Universitario 12 de Octubre, I+12, Centro Nacional de Investigaciones Oncol\u00f3gicas, Complutense University, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Oncolog\u00eda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5871-5813","authenticated-orcid":false,"given":"Jes\u00fas","family":"Victorino","sequence":"additional","affiliation":[{"name":"4Functional Genomics Group, Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain"},{"name":"5Departamento de Bioqu\u00edmica, Facultad de Medicina, Universidad Aut\u00f3noma de Madrid, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4796-9391","authenticated-orcid":false,"given":"Roberto","family":"Garc\u00eda-Vicente","sequence":"additional","affiliation":[{"name":"1Hematology Department, Hospital Universitario 12 de Octubre, I+12, Centro Nacional de Investigaciones Oncol\u00f3gicas, Complutense University, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Oncolog\u00eda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Chase","sequence":"additional","affiliation":[{"name":"6Department of Human Genetics, Faculty of Medicine, University of Southampton, Southampton, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Maidana","sequence":"additional","affiliation":[{"name":"2Tissue and Organ Homeostasis Program, Centro de Biolog\u00eda Molecular Severo Ochoa, Centro Superior de Investigaciones Cient\u00edficas-Universidad Aut\u00f3noma de Madrid, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"Tapper","sequence":"additional","affiliation":[{"name":"6Department of Human Genetics, Faculty of Medicine, University of Southampton, Southampton, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2699-8353","authenticated-orcid":false,"given":"Rosa","family":"Ayala","sequence":"additional","affiliation":[{"name":"1Hematology Department, Hospital Universitario 12 de Octubre, I+12, Centro Nacional de Investigaciones Oncol\u00f3gicas, Complutense University, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Oncolog\u00eda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5481-2555","authenticated-orcid":false,"given":"Nicholas C. 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