Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

ABSTRACT:

Background

Despite recent advances in the investigation of myeloproliferative neoplasms (MPN), the impact of genetic heterogeneity on its molecular pathogenesis has not been fully elucidated. Thus, in this study, we aim to characterize the genetic complexity in Korean patients with polycythemia vera (PV) and essential thrombocythemia (ET).

Methods

We conducted association studies using 84 single-nucleotide polymorphisms (SNPs) in 229 patients (96 with PV and 133 with ET) and 170 controls. Further, whole-genome sequencing was performed in six patients (two with JAK2 V617F and four with wild-type JAK2), and putative somatic mutations were validated in a further 69 ET patients. Clinical and laboratory characteristics were also analyzed.

Results

Several germline SNPs and

SUBMITTER: Yoo EH 

PROVIDER: S-EPMC6807207 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature