{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T18:33:13Z","timestamp":1783103593758,"version":"3.54.6"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,10]],"date-time":"2017-11-10T00:00:00Z","timestamp":1510272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006595","name":"Unitatea Executiva pentru Finantarea Invatamantului Superior, a Cercetarii, Dezvoltarii si Inovarii","doi-asserted-by":"publisher","award":["PN\u2010II\u2010RU\u2010TE\u20102014\u20104\u20100758"],"award-info":[{"award-number":["PN\u2010II\u2010RU\u2010TE\u20102014\u20104\u20100758"]}],"id":[{"id":"10.13039\/501100006595","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in <jats:italic>JAK2<\/jats:italic>, <jats:italic>CALR<\/jats:italic> or <jats:italic>MPL<\/jats:italic> genes. <jats:italic>JAK2<\/jats:italic> 46\/1 and <jats:italic>TERT<\/jats:italic> rs2736100 polymorphisms are known to significantly predispose to MPN. This study aimed to establish the additional contribution of the recently described <jats:italic>MECOM<\/jats:italic> rs2201862, <jats:italic>HBS1L\u2010MYB<\/jats:italic> rs9376092 and <jats:italic>THRB\u2010RARB<\/jats:italic> rs4858647 polymorphisms to the occurrence of MPN. These three polymorphisms, along with <jats:italic>JAK2<\/jats:italic> 46\/1 and <jats:italic>TERT<\/jats:italic> rs2736100 were genotyped in 939 MPN patients (454 with ET, 337 with PV and 148 with PMF) and 483 controls. <jats:italic>MECOM<\/jats:italic> rs2201862 associated significantly with each MPN entity, except for ET, and with all major molecular sub\u2010types, especially those <jats:italic>CALR<\/jats:italic>\u2010mutated (OR\u2009=\u20091.4; 95% CI\u2009=\u20091.1\u20101.8; <jats:italic>P<\/jats:italic>\u2010value\u2009=\u2009.005). <jats:italic>HBS1L\u2010MYB<\/jats:italic> rs9376092 associated only with <jats:italic>JAK2<\/jats:italic> V617F\u2010mutated ET (OR\u2009=\u20091.4; 95% CI\u2009=\u20091.1\u20101.7; <jats:italic>P<\/jats:italic>\u2010value\u2009=\u2009.003). <jats:italic>THRB\u2010RARB<\/jats:italic> rs4858647 had a weak association with PMF only (OR\u2009=\u20091.5; 95% CI\u2009=\u20091\u20102.1; <jats:italic>P<\/jats:italic>\u2010value\u2009=\u2009.04). Surprisingly, <jats:italic>JAK2<\/jats:italic> 46\/1 haplotype was associated significantly not only with <jats:italic>JAK2<\/jats:italic> V617F\u2010mutated MPN, but also with <jats:italic>CALR<\/jats:italic>\u2010mutated MPN (OR\u2009=\u20091.4; 95% CI\u2009=\u20091.1\u20101.8; <jats:italic>P<\/jats:italic>\u2010value\u2009=\u2009.01). <jats:italic>TERT<\/jats:italic> rs2736100 was associated equally strong with all MPN, regardless of phenotype or molecular sub\u2010type. In conclusion, <jats:italic>JAK2<\/jats:italic> 46\/1, <jats:italic>TERT<\/jats:italic> rs2736100 and <jats:italic>MECOM<\/jats:italic> rs2201862 are the chief predisposing polymorphisms to MPN.<\/jats:p>","DOI":"10.1002\/ajh.24946","type":"journal-article","created":{"date-parts":[[2017,10,19]],"date-time":"2017-10-19T07:02:55Z","timestamp":1508396575000},"page":"100-106","source":"Crossref","is-referenced-by-count":30,"title":["<i>MECOM<\/i>, <i>HBS1L\u2010MYB<\/i>, <i>THRB\u2010RARB, JAK2<\/i>, and <i>TERT<\/i> polymorphisms defining the genetic predisposition to myeloproliferative neoplasms: A study on 939 patients"],"prefix":"10.1002","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0229-8643","authenticated-orcid":false,"given":"Adrian P.","family":"Trifa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"},{"name":"Department of Genetics Ion Chiricu\u0163\u0103 Cancer Institute Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"B\u0103nescu","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Advanced Medical and Pharmaceutical Research, University of Medicine and Pharmacy T\u00eergu\u2010Mure\u0219 Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anca S.","family":"Bojan","sequence":"additional","affiliation":[{"name":"Department of Hematology Ion Chiricu\u0163\u0103 Cancer Institute, Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian M.","family":"Voina","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0218tefana","family":"Popa","sequence":"additional","affiliation":[{"name":"Department of Genetics Ion Chiricu\u0163\u0103 Cancer Institute Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Vi\u0219an","sequence":"additional","affiliation":[{"name":"Department of Genetics Ion Chiricu\u0163\u0103 Cancer Institute Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina D.","family":"Ciubean","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Toxicology Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florin","family":"Tripon","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Advanced Medical and Pharmaceutical Research, University of Medicine and Pharmacy T\u00eergu\u2010Mure\u0219 Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delia","family":"Dima","sequence":"additional","affiliation":[{"name":"Department of Hematology Ion Chiricu\u0163\u0103 Cancer Institute, Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola M.","family":"Popov","sequence":"additional","affiliation":[{"name":"Department of Hematology Colentina Hospital Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0218tefan C.","family":"Vesa","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Toxicology Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihaela","family":"Andreescu","sequence":"additional","affiliation":[{"name":"Department of Hematology Colentina Hospital Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00fcnde","family":"T\u00f6r\u00f6k\u2010Vistai","sequence":"additional","affiliation":[{"name":"Department of Hematology Ion Chiricu\u0163\u0103 Cancer Institute, Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romeo G.","family":"Mih\u0103il\u0103","sequence":"additional","affiliation":[{"name":"Department of Hematology Emergency County Hospital, Lucian Blaga University Sibiu Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoleta","family":"Berbec","sequence":"additional","affiliation":[{"name":"Department of Hematology Col\u0163ea Hospital, Carol Davila University of Medicine and Pharmacy Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioan","family":"Macarie","sequence":"additional","affiliation":[{"name":"Department of Hematology University of Medicine and Pharmacy  Romania T\u00eergu\u2010Mure\u0219"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei","family":"Coli\u0163\u0103","sequence":"additional","affiliation":[{"name":"Department of Hematology Col\u0163ea Hospital, Carol Davila University of Medicine and Pharmacy Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Iordache","sequence":"additional","affiliation":[{"name":"Department of Hematology Victor Babe\u0219 University of Medicine and Pharmacy Timi\u0219oara Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina C.","family":"C\u0103tan\u0103","sequence":"additional","affiliation":[{"name":"Department of Hematology Emergency County Hospital, Lucian Blaga University Sibiu Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marius F.","family":"Farca\u0219","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5500-1519","authenticated-orcid":false,"given":"Ciprian","family":"Tomuleasa","sequence":"additional","affiliation":[{"name":"Department of Hematology Ion Chiricu\u0163\u0103 Cancer Institute, Iuliu Ha\u0163ieganu University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinga","family":"Vasile","sequence":"additional","affiliation":[{"name":"Department of Hematology Emergency County Hospital Deva Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Truic\u0103","sequence":"additional","affiliation":[{"name":"Department of Hematology Emergency County Hospital Baia\u2010Mare Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Todinc\u0103","sequence":"additional","affiliation":[{"name":"Department of Hematology Emergency County Hospital Baia\u2010Mare Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lavinia","family":"Pop\u2010Muntean","sequence":"additional","affiliation":[{"name":"Department of Hematology Emergency County Hospital Baia\u2010Mare Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raluca","family":"Manolache","sequence":"additional","affiliation":[{"name":"Department of Hematology Col\u0163ea Hospital, Carol Davila University of Medicine and Pharmacy Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Horia","family":"Bumbea","sequence":"additional","affiliation":[{"name":"Department of Hematology University Emergency Hospital Bucharest, Carol Davila University of Medicine and Pharmacy Bucharest 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