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Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase

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

Diana L Lighezan¹, Anca S Bojan², Mihaela Iancu³

¹Department of Hematology, "Victor Babeș" University of Medicine and Pharmacy, 2, Eftimie Murgu Square, 300041 Timișoara, Romania.

Journal of Personalized Medicine

|December 4, 2020

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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