MECOM, HBS1L-MYB, THRB-RARB, JAK2, and TERT polymorphisms defining the genetic predisposition to myeloproliferative neoplasms: A study on 939 patients

Adrian P. Trifa, Claudia Bănescu, Anca S. Bojan, Cristian M. Voina, Ștefana Popa, Simona Vișan, Alina D. Ciubean, Florin Tripon, Delia Dima, Viola M. Popov, Ștefan C. Vesa, Mihaela Andreescu, Tünde Török-Vistai, Romeo G. Mihăilă, Nicoleta Berbec, Ioan Macarie, Andrei Coliţă, Maria Iordache, Alina C. Cătană, Marius F. FarcașCiprian Tomuleasa, Kinga Vasile, Cristina Truică, Adriana Todincă, Lavinia Pop-Muntean, Raluca Manolache, Horia Bumbea, Ana Maria Vlădăreanu, Mihaela Gaman, Cristina M. Ciufu, Radu A. Popp

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes. JAK2 46/1 and TERT rs2736100 polymorphisms are known to significantly predispose to MPN. This study aimed to establish the additional contribution of the recently described MECOM rs2201862, HBS1L-MYB rs9376092 and THRB-RARB rs4858647 polymorphisms to the occurrence of MPN. These three polymorphisms, along with JAK2 46/1 and TERT rs2736100 were genotyped in 939 MPN patients (454 with ET, 337 with PV and 148 with PMF) and 483 controls. MECOM rs2201862 associated significantly with each MPN entity, except for ET, and with all major molecular sub-types, especially those CALR-mutated (OR = 1.4; 95% CI = 1.1-1.8; P-value =.005). HBS1L-MYB rs9376092 associated only with JAK2 V617F-mutated ET (OR = 1.4; 95% CI = 1.1-1.7; P-value =.003). THRB-RARB rs4858647 had a weak association with PMF only (OR = 1.5; 95% CI = 1-2.1; P-value =.04). Surprisingly, JAK2 46/1 haplotype was associated significantly not only with JAK2 V617F-mutated MPN, but also with CALR-mutated MPN (OR = 1.4; 95% CI = 1.1-1.8; P-value =.01). TERT rs2736100 was associated equally strong with all MPN, regardless of phenotype or molecular sub-type. In conclusion, JAK2 46/1, TERT rs2736100 and MECOM rs2201862 are the chief predisposing polymorphisms to MPN.

Original languageEnglish (US)
Pages (from-to)100-106
Number of pages7
JournalAmerican Journal of Hematology
Volume93
Issue number1
DOIs
StatePublished - Jan 2018

All Science Journal Classification (ASJC) codes

  • Hematology

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