Open AccessGenetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients
Author(s) -
Yoo EunHyung,
Park KyungJin,
Won HongHee,
Park JunHee,
Park JongHo,
Lee SeungTae,
Kim HeeJin,
Bang SooMee,
Chi HyunSook,
Jung Chul Won,
Kim SunHee,
Yun Hongseok,
Sun ChoongHyun,
Park Inho,
Lee Seungmook,
Lee Clarence,
Merriman Barry,
Luo Raymond,
Tan Eileen Hwee Hong,
Park KeunJoon,
Yoo NaKyung,
Kang Jason J.,
Kim JongWon
Publication year - 2016
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.21981
Subject(s) - essential thrombocythemia , polycythemia vera , single nucleotide polymorphism , haplotype , germline mutation , genetics , pathogenesis , germline , medicine , biology , mutation , gene , genotype
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 ( SNP s) in 229 patients (96 with PV and 133 with ET ) and 170 controls. Further, whole‐genome sequencing was performed in six patients (two with JAK 2 V617F and four with wild‐type JAK 2 ), and putative somatic mutations were validated in a further 69 ET patients. Clinical and laboratory characteristics were also analyzed. Results Several germline SNP s and the 46 haplotype were significantly associated with PV and ET . Three somatic mutations in MPDZ , IQCH , and CALR genes were selected and validated. The frequency of the CALR mutation was 58.0% (40/69) in ET patients, who did not carry JAK 2 / MPL mutations. Moreover, compared with JAK 2 V617F‐positive patients, those with CALR mutations showed lower hemoglobin and hematocrit levels ( P = 0.004 and P = 0.002, respectively), higher platelet counts ( P =0.008), and a lower frequency of cytoreductive therapy ( P = 0.014). Conclusion This study was the first comprehensive investigation of the genetic characteristics of Korean patients with PV and ET . We found that somatic mutations and the 46 haplotype contribute to PV and ET pathogenesis in Korean patients.