In:
British Journal of Haematology, Wiley, Vol. 174, No. 2 ( 2016-07), p. 218-226
Abstract:
Polycythaemia vera ( PV ), essential thrombocythaemia ( ET ) and primary myelofibrosis ( PMF ) represent typical myeloproliferative neoplasms ( MPN ), usually characterized by specific somatic driver mutations ( JAK 2 V617F, CALR and MPL ). JAK 2 46/1 haplotype and telomerase reverse transcriptase gene ( TERT ) rs2736100 A 〉 C single nucleotide polymorphism ( SNP ) could represent a large fraction of the genetic predisposition seen in MPN . The rs10974944 C 〉 G SNP , tagging the JAK 2 46/1 haplotype, and the TERT rs2736100 A 〉 C SNP were genotyped in 529 MPN patients with known JAK 2 V617F, CALR and MPL status, and 433 controls. JAK 2 46/1 haplotype strongly correlated to JAK 2 V617F‐positive MPN and, to a lesser extent, CALR ‐positive MPN . The TERT rs2736100 A 〉 C SNP strongly correlated to all MPN , regardless of the phenotype ( PV , ET or PMF ) and major molecular subtype ( JAK 2 V617F‐ or CALR ‐positive). While both variants have a significant contribution, they have nuanced consequences, with JAK 2 46/1 predisposing essentially to JAK 2 V617F‐positive MPN , and TERT rs2736100 A 〉 C having a more general, non‐specific effect on all MPN , regardless of phenotype or major molecular subtype.
Type of Medium:
Online Resource
ISSN:
0007-1048
,
1365-2141
DOI:
10.1111/bjh.2016.174.issue-2
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
1475751-5
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