{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T02:46:36Z","timestamp":1789958796569,"version":"4.0.1"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,4,7]],"date-time":"2016-04-07T00:00:00Z","timestamp":1459987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006730","name":"Ministerul Educa\u021biei \u0219i Cercet\u0103rii \u0218tiin\u021bifice","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\/501100006730","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2016,7]]},"abstract":"Polycythaemia vera (PV<\/jats:styled-content>), essential thrombocythaemia (ET<\/jats:styled-content>) and primary myelofibrosis (PMF<\/jats:styled-content>) represent typical myeloproliferative neoplasms (MPN<\/jats:styled-content>), usually characterized by specific somatic driver mutations (JAK<\/jats:styled-content>2<\/jats:italic> V617F, CALR<\/jats:styled-content><\/jats:italic> and MPL<\/jats:styled-content><\/jats:italic>). JAK<\/jats:styled-content>2<\/jats:italic> 46\/1 haplotype and telomerase reverse transcriptase gene (TERT<\/jats:styled-content><\/jats:italic>) rs2736100 A>C single nucleotide polymorphism (SNP<\/jats:styled-content>) could represent a large fraction of the genetic predisposition seen in MPN<\/jats:styled-content>. The rs10974944 C>G SNP<\/jats:styled-content>, tagging the JAK<\/jats:styled-content>2<\/jats:italic> 46\/1 haplotype, and the TERT<\/jats:styled-content><\/jats:italic> rs2736100 A>C SNP<\/jats:styled-content> were genotyped in 529 MPN<\/jats:styled-content> patients with known JAK<\/jats:styled-content>2<\/jats:italic> V617F, CALR<\/jats:styled-content><\/jats:italic> and MPL<\/jats:styled-content><\/jats:italic> status, and 433 controls. JAK<\/jats:styled-content>2<\/jats:italic> 46\/1 haplotype strongly correlated to JAK<\/jats:styled-content>2<\/jats:italic> V617F\u2010positive MPN<\/jats:styled-content> and, to a lesser extent, CALR<\/jats:styled-content><\/jats:italic>\u2010positive MPN<\/jats:styled-content>. The TERT<\/jats:styled-content><\/jats:italic> rs2736100 A>C SNP<\/jats:styled-content> strongly correlated to all MPN<\/jats:styled-content>, regardless of the phenotype (PV<\/jats:styled-content>, ET<\/jats:styled-content> or PMF<\/jats:styled-content>) and major molecular subtype (JAK<\/jats:styled-content>2<\/jats:italic> V617F\u2010 or CALR<\/jats:styled-content><\/jats:italic>\u2010positive). While both variants have a significant contribution, they have nuanced consequences, with JAK<\/jats:styled-content>2<\/jats:italic> 46\/1 predisposing essentially to JAK<\/jats:styled-content>2<\/jats:italic> V617F\u2010positive MPN<\/jats:styled-content>, and TERT<\/jats:styled-content><\/jats:italic> rs2736100 A>C having a more general, non\u2010specific effect on all MPN<\/jats:styled-content>, regardless of phenotype or major molecular subtype.<\/jats:p>","DOI":"10.1111\/bjh.14041","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T17:42:07Z","timestamp":1460310127000},"page":"218-226","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["TERT<\/scp><\/i> rs2736100 A>C SNP<\/scp> and JAK<\/scp>2<\/i> 46\/1 haplotype significantly contribute to the occurrence of JAK<\/scp>2<\/i> V617F and CALR<\/scp><\/i> mutated myeloproliferative neoplasms \u2013 a multicentric study on 529 patients"],"prefix":"10.1111","volume":"174","author":[{"given":"Adrian P.","family":"Trifa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics \u2018Iuliu Ha\u021bieganu\u2019 University of Medicine and Pharmacy Cluj\u2010Napoca Romania"},{"name":"Department of Genetics \u2018Ion Chiricu\u021b\u0103\u2019 Cancer Institute Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"B\u0103nescu","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Medicine and Pharmacy T\u00eergu\u2010Mure\u0219 Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihaela","family":"Tevet","sequence":"additional","affiliation":[{"name":"Department of Haematology Colentina Hospital Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anca","family":"Bojan","sequence":"additional","affiliation":[{"name":"Department of Haematology \u2018Ion Chiricu\u021b\u0103\u2019 Cancer Institute Cluj\u2010Napoca Romania"},{"name":"Department of Haematology \u2018Iuliu Ha\u021bieganu\u2019 University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delia","family":"Dima","sequence":"additional","affiliation":[{"name":"Department of Haematology \u2018Ion Chiricu\u021b\u0103\u2019 Cancer Institute Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Urian","sequence":"additional","affiliation":[{"name":"Department of Haematology \u2018Ion Chiricu\u021b\u0103\u2019 Cancer Institute Cluj\u2010Napoca Romania"},{"name":"Department of Haematology \u2018Iuliu Ha\u021bieganu\u2019 University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00fcnde","family":"T\u00f6r\u00f6k\u2010Vistai","sequence":"additional","affiliation":[{"name":"Department of Haematology \u2018Ion Chiricu\u021b\u0103\u2019 Cancer Institute Cluj\u2010Napoca Romania"},{"name":"Department of Haematology \u2018Iuliu Ha\u021bieganu\u2019 University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola M.","family":"Popov","sequence":"additional","affiliation":[{"name":"Department of Haematology Colentina Hospital Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihnea","family":"Zdrenghea","sequence":"additional","affiliation":[{"name":"Department of Haematology \u2018Ion Chiricu\u021b\u0103\u2019 Cancer Institute Cluj\u2010Napoca Romania"},{"name":"Department of Haematology \u2018Iuliu Ha\u021bieganu\u2019 University of Medicine and Pharmacy Cluj\u2010Napoca Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ljubomir","family":"Petrov","sequence":"additional","affiliation":[{"name":"Department of Haematology \u2018Ion Chiricu\u021b\u0103\u2019 Cancer 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