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

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 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 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 V617F, or .

Results: Significant association between rs154843 variant allele and V617F-positive PV and PMF (OR = 1.70; 95% CI: 1.01-2.91; -value = 0.046, and OR = 2.04; 95% CI: 1.10-3.77; -value = 0.024, respectively), and type 2 -positive PMF (OR = 2.98; 95% CI: 1.12-7.93; -value = 0.035) was noted.

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