Annals of Hematology

, Volume 89, Issue 10, pp 979–983 | Cite as

The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms

  • Adrian P. Trifa
  • Andrei Cucuianu
  • Ljubomir Petrov
  • Laura Urian
  • Mariela S. Militaru
  • Delia Dima
  • Ioan V. Pop
  • Radu A. Popp
Original Article

Abstract

Polycythemia vera, essential thrombocythemia, and primary myelofibrosis are myeloproliferative neoplasms, characterized in a majority of cases by a unique somatic point mutation, JAK2 V617F. Recently, it was shown that JAK2 V617F occurs more frequently on a specific JAK2 haplotype, named JAK2 46/1. We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential thrombocythemia, and 15 had primary myelofibrosis) with a known JAK2 V617F mutational status and 150 controls for the JAK2 rs10974944 (C/G) single nucleotide polymorphism, in which the G allele tags the 46/1 haplotype. We found that the rs10974944 GG/CG genotypes were significantly enriched in patients compared to controls (p < 0.0001). After stratifying for the JAK2 V617F mutational status and for the mutant allele burden, we demonstrated that GG/CG genotypes were significantly more frequent in V617F positive compared to V617F negative patients (p = 0.001), but not in V617F negative patients compared to controls (p = 0.29). Similarly, the GG/CG genotypes were significantly enriched in V617F positive patients with a mutant allele burden >50% compared to those with a mutant allele burden <50% (p = 0.0006). Our results indicate that the G allele, part of the JAK2 46/1 haplotype, contributes significantly to the occurrence of JAK2 V617F-positive myeloproliferative neoplasms. Moreover, JAK2 46/1 seems to be associated with mutant allele burden >50% in JAK2 V617F-positive myeloproliferative neoplasms patients.

Keywords

Myeloproliferative neoplasms JAK2 V617F JAK2 46/1 haplotype JAK2 rs10974944 SNP 

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Adrian P. Trifa
    • 1
  • Andrei Cucuianu
    • 2
  • Ljubomir Petrov
    • 2
  • Laura Urian
    • 2
  • Mariela S. Militaru
    • 1
  • Delia Dima
    • 2
  • Ioan V. Pop
    • 1
  • Radu A. Popp
    • 1
  1. 1.Department of Medical Genetics“Iuliu Hatieganu” University of Medicine and PharmacyCluj-NapocaRomania
  2. 2.Department of Hematology“Ion Chiricuta” Cancer InstituteCluj-NapocaRomania

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