Minor allele frequency of myeloproliferative neoplasm mutations in the Irish blood donor population

Glen J. Titmarsh, Gareth J. McKay, Mark Lawler, Lesley A. Anderson, Mary Frances McMullin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Myeloproliferative neoplasms (MPNs) are rare diseases that include classic entities; polycythaemia vera, essential thrombocythaemia and primary myelofibrosis. In this short report, minor allele frequencies of common MPN mutations are compared between the Irish blood donor population and other populations of European descent using data from the Haplotype Map project. The Affymetrix array 6.0 platform was utilised identifying nine single nucleotide polymorphisms (SNPs) and six proxy SNPs. The variability of allele frequencies for MPN mutations could account for the different incidence rates seen between populations of European ancestry, giving a better understanding of the genetic predisposition to MPNs.

Original languageEnglish
Pages (from-to)161-164
Number of pages4
JournalHematological Oncology
Issue number3
Early online date3 Feb 2015
Publication statusPublished - Sept 2016

Bibliographical note

We thank Dr Joseph McPartlin, TCD, for providing the genetic data for the Irish blood donors. The work was supported by Queen's University Belfast's Centre for Public Health. The interpretation and reporting of these data are the sole responsibility of the authors. GJT is a PhD candidate at Queen's University Belfast supported by funding from Myeloproliferative Disorders Support Voice.


  • epidemiology
  • myeloproliferative neoplasms
  • single nucleotide polymorphisms


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