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. 2020 Dec 1;10(4):259.
doi: 10.3390/jpm10040259.

TET2 rs1548483 SNP Associating with Susceptibility to Molecularly Annotated Polycythemia Vera and Primary Myelofibrosis

Diana L Lighezan  1 , Anca S Bojan  2 , Mihaela Iancu  3 , Raluca M Pop  4 , Ștefana Gligor-Popa  5 , Florin Tripon  6   7 , Adriana S Cosma  6   7 , Ciprian Tomuleasa  2 , Delia Dima  2 , Mihnea Zdrenghea  2 , Bogdan Fetica  8 , Ioana Ioniță  1 , Ildikó O Gaál  9 , Simona Vișan  5 , Andreea-Manuela Mirea  9 , Radu A Popp  9 , Mira Florea  10 , Cătălin Araniciu  11 , Lucian Petrescu  12 , Ioan V Pop  9 , Claudia Bănescu  6   7 , Adrian P Trifa  5   7   9
Affiliations

TET2 rs1548483 SNP Associating with Susceptibility to Molecularly Annotated Polycythemia Vera and Primary Myelofibrosis

Diana L Lighezan et al. J Pers Med. .

Abstract

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: 1.01-2.91; p-value = 0.046, and OR = 2.04; 95% CI: 1.10-3.77; p-value = 0.024, respectively), and type 2 CALR-positive PMF (OR = 2.98; 95% CI: 1.12-7.93; p-value = 0.035) was noted.

Conclusions: The TET2 rs1548483 SNP is associated with the susceptibility to molecularly annotated PV and PMF.

Keywords: TET2; genetic predisposition; myeloproliferative neoplasms; single nucleotide polymorphisms.

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Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Omar A.W., Levine L.R. In: Genetics of the Myeloproliferative Neoplasms in Myeloproliferative Neoplasms: Biology and Therapy. 1st ed. Verstovsek S., Tefferi A., editors. Humana Press; Totowa, NJ, USA: 2011. pp. 39–68. - DOI
    1. Dameshek W. Editorial: Some Speculations on the Myeloproliferative Syndromes. Blood. 1951;6:372–375. doi: 10.1182/blood.V6.4.372.372. - DOI - PubMed
    1. Tefferi A., Thiele J., Vardiman J.W. The 2008 World Health Organization classification system for myeloproliferative neoplasms. Cancer. 2009;115:3842–3847. doi: 10.1002/cncr.24440. - DOI - PubMed
    1. Barbui T., Thiele J., Gisslinger H., Kvasnicka H.M., Vannucchi A.M., Guglielmelli P., Orazi A., Tefferi A. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: Document summary and in-depth discussion. Blood Cancer J. 2018;8:15. doi: 10.1038/s41408-018-0054-y. - DOI - PMC - PubMed
    1. Tefferi A., Pardanani A. Myeloproliferative Neoplasms. JAMA Oncol. 2015;1:97–105. doi: 10.1001/jamaoncol.2015.89. - DOI - PubMed