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 journalArticle

Abstract

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
Volume34
Issue number3
Early online date3 Feb 2015
DOIs
Publication statusPublished - Sep 2016

Keywords

  • epidemiology
  • myeloproliferative neoplasms
  • single nucleotide polymorphisms

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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