title: Minor allele frequency of myeloproliferative neoplasm mutations in the Irish blood donor population.
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. Copyright © 2015 John Wiley & Sons, Ltd.
authors: Centre for Public Health, Institute of Clinical Sciences, Block B, Queen's University Belfast, Belfast, Northern Ireland, UK.
authors: Glen J
authors: GJ
authors: Titmarsh
authors: Centre for Public Health, Institute of Clinical Sciences, Block B, Queen's University Belfast, Belfast, Northern Ireland, UK.
authors: Gareth J
authors: GJ
authors: McKay
authors: Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK.
authors: Mark
authors: M
authors: Lawler
authors: Centre for Public Health, Institute of Clinical Sciences, Block B, Queen's University Belfast, Belfast, Northern Ireland, UK.
authors: Lesley A
authors: LA
authors: Anderson
authors: Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK.
authors: Mary Frances
authors: MF
authors: McMullin
mesh_terms: D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D019337:Hematologic Neoplasms / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000628:therapy; D009363:Neoplasm Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044465:White People
chemical_list: D009363:Neoplasm Proteins
keywords: epidemiology; myeloproliferative neoplasms; single nucleotide polymorphisms