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.
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.
- myeloproliferative neoplasms
- single nucleotide polymorphisms