{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T07:47:56Z","timestamp":1715586476157},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,5,2]],"date-time":"2016-05-02T00:00:00Z","timestamp":1462147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2016,11]]},"abstract":"Background<\/jats:title>Despite recent advances in the investigation of myeloproliferative neoplasms (MPN<\/jats:styled-content>), 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<\/jats:styled-content>) and essential thrombocythemia (ET<\/jats:styled-content>).<\/jats:p><\/jats:sec>Methods<\/jats:title>We conducted association studies using 84 single\u2010nucleotide polymorphisms (SNP<\/jats:styled-content>s) in 229 patients (96 with PV<\/jats:styled-content> and 133 with ET<\/jats:styled-content>) and 170 controls. Further, whole\u2010genome sequencing was performed in six patients (two with JAK<\/jats:styled-content>2<\/jats:italic> V617F and four with wild\u2010type JAK<\/jats:styled-content>2<\/jats:italic>), and putative somatic mutations were validated in a further 69 ET<\/jats:styled-content> patients. Clinical and laboratory characteristics were also analyzed.<\/jats:p><\/jats:sec>Results<\/jats:title>Several germline SNP<\/jats:styled-content>s and the 46 haplotype were significantly associated with PV<\/jats:styled-content> and ET<\/jats:styled-content>. Three somatic mutations in MPDZ<\/jats:styled-content><\/jats:italic>, IQCH<\/jats:styled-content><\/jats:italic>, and CALR<\/jats:styled-content><\/jats:italic> genes were selected and validated. The frequency of the CALR<\/jats:styled-content><\/jats:italic> mutation was 58.0% (40\/69) in ET<\/jats:styled-content> patients, who did not carry JAK<\/jats:styled-content>2<\/jats:italic>\/MPL<\/jats:styled-content><\/jats:italic> mutations. Moreover, compared with JAK<\/jats:styled-content>2<\/jats:italic> V617F\u2010positive patients, those with CALR<\/jats:styled-content><\/jats:italic> mutations showed lower hemoglobin and hematocrit levels (P<\/jats:italic> = 0.004 and P<\/jats:italic> = 0.002, respectively), higher platelet counts (P<\/jats:italic> =0.008), and a lower frequency of cytoreductive therapy (P<\/jats:italic> = 0.014).<\/jats:p><\/jats:sec>Conclusion<\/jats:title>This study was the first comprehensive investigation of the genetic characteristics of Korean patients with PV<\/jats:styled-content> and ET<\/jats:styled-content>. We found that somatic mutations and the 46 haplotype contribute to PV<\/jats:styled-content> and ET<\/jats:styled-content> pathogenesis in Korean patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.21981","type":"journal-article","created":{"date-parts":[[2016,5,2]],"date-time":"2016-05-02T05:08:50Z","timestamp":1462165730000},"page":"1061-1070","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients"],"prefix":"10.1002","volume":"30","author":[{"given":"Eun\u2010Hyung","family":"Yoo","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Konyang University Hospital Myunggok Medical Research Institute College of Medicine Konyang University Daejeon Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung\u2010Jin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Technology Samsung Advanced Institute 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