{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T11:13:39Z","timestamp":1760181219803,"version":"build-2065373602"},"reference-count":40,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Research and Education, Romania","award":["PN-III-P1-1.1-PD-2016-1414"],"award-info":[{"award-number":["PN-III-P1-1.1-PD-2016-1414"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background: The complexity of myeloproliferative neoplasms (MPNs) cannot be characterized by acquired somatic mutations alone. Individual genetic background is thought to contribute to the development of MPNs. The aim of our study was to assess the association between the TET2 rs1548483 single nucleotide polymorphism (SNP) and the susceptibility to polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) or chronic myeloid leukemia (CML). Methods: We evaluated the TET2 rs1548483 SNP through real-time PCR in 1601 MPN patients out of which 431 with PV, 688 with TE, 233 with PMF, 249 with CML and 197 controls. We included only patients with a molecularly proven driver mutation, such as JAK2 V617F, CALR or BCR-ABL1. Results: Significant association between TET2 rs154843 variant allele and JAK2 V617F-positive PV and PMF (OR = 1.70; 95% CI: 1.01\u20132.91; p-value = 0.046, and OR = 2.04; 95% CI: 1.10\u20133.77; p-value = 0.024, respectively), and type 2 CALR-positive PMF (OR = 2.98; 95% CI: 1.12\u20137.93; p-value = 0.035) was noted. Conclusions: The TET2 rs1548483 SNP is associated with the susceptibility to molecularly annotated PV and PMF.<\/jats:p>","DOI":"10.3390\/jpm10040259","type":"journal-article","created":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T13:08:51Z","timestamp":1606828131000},"page":"259","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["TET2 rs1548483 SNP Associating with Susceptibility to Molecularly Annotated Polycythemia Vera and Primary Myelofibrosis"],"prefix":"10.3390","volume":"10","author":[{"given":"Diana L.","family":"Lighezan","sequence":"first","affiliation":[{"name":"Department of Hematology, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy, 2, Eftimie Murgu Square, 300041 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anca S.","family":"Bojan","sequence":"additional","affiliation":[{"name":"Department of Hematology, The Oncology Institute \u201cIon Chiricu\u021b\u0103\u201d, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4557-5364","authenticated-orcid":false,"given":"Mihaela","family":"Iancu","sequence":"additional","affiliation":[{"name":"Department of Medical Informatics and Biostatistics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1899-5977","authenticated-orcid":false,"given":"Raluca M.","family":"Pop","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Toxicology, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0218tefana","family":"Gligor-Popa","sequence":"additional","affiliation":[{"name":"Department of Genetics, The Oncology Institute \u201cIon Chiricu\u021b\u0103\u201d, 34-36 Republicii Street, 400015 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4297-9988","authenticated-orcid":false,"given":"Florin","family":"Tripon","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cGeorge Emil Palade\u201d University of Medicine, Pharmacy, Science and Technology, 38, Gheorghe Marinescu Street, 540139 T\u00e2rgu-Mure\u0219, Romania"},{"name":"Center for Advanced Medical and Pharmaceutical Research, \u201cGeorge Emil Palade\u201d University of Medicine, Pharmacy, Science and Technology, 38, Gheorghe Marinescu Street, 540139 T\u00e2rgu-Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana S.","family":"Cosma","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cGeorge Emil Palade\u201d University of Medicine, Pharmacy, Science and Technology, 38, Gheorghe Marinescu Street, 540139 T\u00e2rgu-Mure\u0219, Romania"},{"name":"Center for Advanced Medical and Pharmaceutical Research, \u201cGeorge Emil Palade\u201d University of Medicine, Pharmacy, Science and Technology, 38, Gheorghe Marinescu Street, 540139 T\u00e2rgu-Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ciprian","family":"Tomuleasa","sequence":"additional","affiliation":[{"name":"Department of Hematology, The Oncology Institute \u201cIon Chiricu\u021b\u0103\u201d, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delia","family":"Dima","sequence":"additional","affiliation":[{"name":"Department of Hematology, The Oncology Institute \u201cIon Chiricu\u021b\u0103\u201d, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihnea","family":"Zdrenghea","sequence":"additional","affiliation":[{"name":"Department of Hematology, The Oncology Institute \u201cIon Chiricu\u021b\u0103\u201d, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogdan","family":"Fetica","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Oncology Institute \u201cIon Chiricu\u021b\u0103\u201d, 34-36 Republicii Street, 400015 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Ioni\u021b\u0103","sequence":"additional","affiliation":[{"name":"Department of Hematology, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy, 2, Eftimie Murgu Square, 300041 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ildik\u00f3 O.","family":"Ga\u00e1l","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7936-121X","authenticated-orcid":false,"given":"Simona","family":"Vi\u0219an","sequence":"additional","affiliation":[{"name":"Department of Genetics, The Oncology Institute \u201cIon Chiricu\u021b\u0103\u201d, 34-36 Republicii Street, 400015 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreea-Manuela","family":"Mirea","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radu A.","family":"Popp","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mira","family":"Florea","sequence":"additional","affiliation":[{"name":"Department of Community Medicine, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8621-8662","authenticated-orcid":false,"given":"C\u0103t\u0103lin","family":"Araniciu","sequence":"additional","affiliation":[{"name":"Department of Therapeutic Chemistry, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucian","family":"Petrescu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy, 2, Eftimie Murgu Square, 300041 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioan V.","family":"Pop","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"B\u0103nescu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u201cGeorge Emil Palade\u201d University of Medicine, Pharmacy, Science and Technology, 38, Gheorghe Marinescu Street, 540139 T\u00e2rgu-Mure\u0219, Romania"},{"name":"Center for Advanced Medical and Pharmaceutical Research, \u201cGeorge Emil Palade\u201d University of Medicine, Pharmacy, Science and Technology, 38, Gheorghe Marinescu Street, 540139 T\u00e2rgu-Mure\u0219, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian P.","family":"Trifa","sequence":"additional","affiliation":[{"name":"Department of Genetics, The Oncology Institute \u201cIon Chiricu\u021b\u0103\u201d, 34-36 Republicii Street, 400015 Cluj-Napoca, Romania"},{"name":"Center for Advanced Medical and Pharmaceutical Research, \u201cGeorge Emil Palade\u201d University of Medicine, Pharmacy, Science and Technology, 38, Gheorghe Marinescu Street, 540139 T\u00e2rgu-Mure\u0219, Romania"},{"name":"Department of Medical Genetics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy, 8, Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Verstovsek, S., and Tefferi, A. 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