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Int. J. Mol. Sci. 2018, 19(4), 1152; doi:10.3390/ijms19041152

The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy
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Received: 19 March 2018 / Revised: 5 April 2018 / Accepted: 9 April 2018 / Published: 11 April 2018
(This article belongs to the Section Biochemistry, Molecular and Cellular Biology)
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Abstract

The germline JAK2 haplotype known as “GGCC or 46/1 haplotype” (haplotypeGGCC_46/1) consists of a combination of single nucleotide polymorphisms (SNPs) mapping in a region of about 250 kb, extending from the JAK2 intron 10 to the Insulin-like 4 (INLS4) gene. Four main SNPs (rs3780367, rs10974944, rs12343867, and rs1159782) generating a “GGCC” combination are more frequently indicated to represent the JAK2 haplotype. These SNPs are inherited together and are frequently associated with the onset of myeloproliferative neoplasms (MPN) positive for both JAK2 V617 and exon 12 mutations. The association between the JAK2 haplotypeGGCC_46/1 and mutations in other genes, such as thrombopoietin receptor (MPL) and calreticulin (CALR), or the association with triple negative MPN, is still controversial. This review provides an overview of the frequency and the role of the JAK2 haplotypeGGCC_46/1 in the pathogenesis of different myeloid neoplasms and describes the hypothetical mechanisms at the basis of the association with JAK2 gene mutations. Moreover, possible clinical implications are discussed, as different papers reported contrasting data about the correlation between the JAK2 haplotypeGGCC_46/1 and blood cell count, survival, or disease progression. View Full-Text
Keywords: JAK2 germline haplotype; single nucleotide polymorphisms; myeloproliferative neoplasms JAK2 germline haplotype; single nucleotide polymorphisms; myeloproliferative neoplasms
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Anelli, L.; Zagaria, A.; Specchia, G.; Albano, F. The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random? Int. J. Mol. Sci. 2018, 19, 1152.

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