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

doi:10.1002/hon.2190

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 journal › Article › peer-review

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 language	English
Pages (from-to)	161-164
Number of pages	4
Journal	Hematological Oncology
Volume	34
Issue number	3
Early online date	3 Feb 2015
DOIs	https://doi.org/10.1002/hon.2190
Publication status	Published - Sep 2016

Keywords

epidemiology
myeloproliferative neoplasms
single nucleotide polymorphisms

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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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.",

keywords = "epidemiology, myeloproliferative neoplasms, single nucleotide polymorphisms",

author = "Titmarsh, {Glen J.} and McKay, {Gareth J.} and Mark Lawler and Anderson, {Lesley A.} and McMullin, {Mary Frances}",

note = "Acknowledgements 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.",

year = "2016",

month = sep,

doi = "10.1002/hon.2190",

language = "English",

volume = "34",

pages = "161--164",

journal = "Hematological Oncology",

issn = "0278-0232",

publisher = "John Wiley and Sons Ltd",

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T1 - Minor allele frequency of myeloproliferative neoplasm mutations in the Irish blood donor population

AU - Titmarsh, Glen J.

AU - McKay, Gareth J.

AU - Lawler, Mark

AU - Anderson, Lesley A.

AU - McMullin, Mary Frances

N1 - Acknowledgements 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.

PY - 2016/9

Y1 - 2016/9

N2 - 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.

AB - 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.

KW - epidemiology

KW - myeloproliferative neoplasms

KW - single nucleotide polymorphisms

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JO - Hematological Oncology

JF - Hematological Oncology

SN - 0278-0232

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ER -

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

Abstract

Keywords

UN SDGs

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