The University of Southampton
University of Southampton Institutional Repository

The severity of FIP1L1-PDGFRA-positive chronic eosinophilic leukaemia is associated with polymorphic variation at the IL5RA locus

The severity of FIP1L1-PDGFRA-positive chronic eosinophilic leukaemia is associated with polymorphic variation at the IL5RA locus
The severity of FIP1L1-PDGFRA-positive chronic eosinophilic leukaemia is associated with polymorphic variation at the IL5RA locus
We have investigated the hypothesis that constitutional genetic variation in IL-5 signalling may be associated with the development or severity of FIP1L1-PDGFRA-positive chronic eosinophilic leukaemia (CEL) in humans. We genotyped six single-nucleotide polymorphisms (SNP) within or close to the IL5RA or IL5 genes in 82 patients with FIP1L1-PDGFRA-positive CEL plus, as controls, healthy individuals (n=100), patients with FIP1L1-PDGFRA-negative eosinophilia (n=100) or patients with chronic myeloid leukaemia (CML) (n=100). We found no association between SNP allele frequency between FIP1L1-PDGFRA-positive and control cases. However, for FIP1L1-PDGFRA cases, we found an association between the genotype at rs4054760, an SNP in the 5'-UTR of IL5RA and peripheral blood eosinophil count (P=0.026) as well as the presence or absence of tissue infiltration (P=0.032). Although these associations fell below the level of significance once corrected for multiple testing, no such association was seen in FIP1L1-PDGFRA-negative cases and no difference in allele frequencies for rs4054760 was seen in control populations across Europe. Furthermore, in an analysis of 112 patients with CML, IL5RA expression was strongly related to rs4054760 genotype (P<0.001). These data suggest that the variations in IL5RA expression are linked to constitutional IL5RA genotype and severity of FIP1L1-PDGFRA disease.
platelet-derived growth factor, chronic disease, genetics, neoplasm proteins, biosynthesis, blood, platelet-derived growth factor alpha, phenotype, hypothesis, chronic, research support, patients, protein, expression, mrna cleavage and polyadenylation factors, hypereosinophilic syndrome, europe, interleukin-5 receptor alpha subunit, fusion, genes, growth, human, oncogene proteins, genotype, alpha, research, leukemic, leukocyte count, disease, single nucleotide, myelogenous, eosinophilia, bcr-abl positive, population, eosinophils, gene expression regulation, polymorphism, laboratories, epidemiology, 5' untranslated regions, proteins, receptor, leukemia, humans, analysis, interleukin-5
0887-6924
2428-2432
Burgstaller, S.
e1853c90-6ef9-41a8-b140-d4c351208eae
Kreil, S.
2404ac13-cdaa-43a3-913b-adceb79e598f
Waghorn, K.
60a6a26d-556b-41fc-84ee-dab95d63ab68
Metzgeroth, G.
ce361b67-c4da-471c-95aa-acb1dd0d1b04
Preudhomme, C.
1db28c45-3add-43f1-96b7-09d2c8442c66
Zoi, K.
a9f569b2-4539-4efd-8ac8-c21f0d347225
White, H.
2181c0b9-fc3b-407e-95eb-3510524603e5
Cilloni, D.
8e050e5e-0690-4f0c-8013-235ff258b4c0
Zoi, C.
7c5c5a43-8d1d-4cd1-9841-000764bef152
Brito-Babapulle, F.
14baad75-e681-4df6-9908-02537f00bd1d
Walz, C.
03a7b61b-bebd-4510-8f08-ec6b65a36809
Reiter, A.
8fc082eb-6b46-4412-86b2-f4c7669f0650
Cross, N.C.
f87650da-b908-4a34-b31b-d62c5f186fe4
Burgstaller, S.
e1853c90-6ef9-41a8-b140-d4c351208eae
Kreil, S.
2404ac13-cdaa-43a3-913b-adceb79e598f
Waghorn, K.
60a6a26d-556b-41fc-84ee-dab95d63ab68
Metzgeroth, G.
ce361b67-c4da-471c-95aa-acb1dd0d1b04
Preudhomme, C.
1db28c45-3add-43f1-96b7-09d2c8442c66
Zoi, K.
a9f569b2-4539-4efd-8ac8-c21f0d347225
White, H.
2181c0b9-fc3b-407e-95eb-3510524603e5
Cilloni, D.
8e050e5e-0690-4f0c-8013-235ff258b4c0
Zoi, C.
7c5c5a43-8d1d-4cd1-9841-000764bef152
Brito-Babapulle, F.
14baad75-e681-4df6-9908-02537f00bd1d
Walz, C.
03a7b61b-bebd-4510-8f08-ec6b65a36809
Reiter, A.
8fc082eb-6b46-4412-86b2-f4c7669f0650
Cross, N.C.
f87650da-b908-4a34-b31b-d62c5f186fe4

Burgstaller, S., Kreil, S., Waghorn, K., Metzgeroth, G., Preudhomme, C., Zoi, K., White, H., Cilloni, D., Zoi, C., Brito-Babapulle, F., Walz, C., Reiter, A. and Cross, N.C. (2007) The severity of FIP1L1-PDGFRA-positive chronic eosinophilic leukaemia is associated with polymorphic variation at the IL5RA locus. Leukemia, 21 (12), 2428-2432. (doi:10.1038/sj.leu.2404977).

Record type: Article

Abstract

We have investigated the hypothesis that constitutional genetic variation in IL-5 signalling may be associated with the development or severity of FIP1L1-PDGFRA-positive chronic eosinophilic leukaemia (CEL) in humans. We genotyped six single-nucleotide polymorphisms (SNP) within or close to the IL5RA or IL5 genes in 82 patients with FIP1L1-PDGFRA-positive CEL plus, as controls, healthy individuals (n=100), patients with FIP1L1-PDGFRA-negative eosinophilia (n=100) or patients with chronic myeloid leukaemia (CML) (n=100). We found no association between SNP allele frequency between FIP1L1-PDGFRA-positive and control cases. However, for FIP1L1-PDGFRA cases, we found an association between the genotype at rs4054760, an SNP in the 5'-UTR of IL5RA and peripheral blood eosinophil count (P=0.026) as well as the presence or absence of tissue infiltration (P=0.032). Although these associations fell below the level of significance once corrected for multiple testing, no such association was seen in FIP1L1-PDGFRA-negative cases and no difference in allele frequencies for rs4054760 was seen in control populations across Europe. Furthermore, in an analysis of 112 patients with CML, IL5RA expression was strongly related to rs4054760 genotype (P<0.001). These data suggest that the variations in IL5RA expression are linked to constitutional IL5RA genotype and severity of FIP1L1-PDGFRA disease.

Full text not available from this repository.

More information

Published date: 4 October 2007
Keywords: platelet-derived growth factor, chronic disease, genetics, neoplasm proteins, biosynthesis, blood, platelet-derived growth factor alpha, phenotype, hypothesis, chronic, research support, patients, protein, expression, mrna cleavage and polyadenylation factors, hypereosinophilic syndrome, europe, interleukin-5 receptor alpha subunit, fusion, genes, growth, human, oncogene proteins, genotype, alpha, research, leukemic, leukocyte count, disease, single nucleotide, myelogenous, eosinophilia, bcr-abl positive, population, eosinophils, gene expression regulation, polymorphism, laboratories, epidemiology, 5' untranslated regions, proteins, receptor, leukemia, humans, analysis, interleukin-5

Identifiers

Local EPrints ID: 59543
URI: https://eprints.soton.ac.uk/id/eprint/59543
ISSN: 0887-6924
PURE UUID: 4cafcb07-bd8c-434d-83da-99edbc6bc1dd
ORCID for N.C. Cross: ORCID iD orcid.org/0000-0001-5481-2555

Catalogue record

Date deposited: 03 Sep 2008
Last modified: 16 Jul 2019 00:57

Export record

Altmetrics

Contributors

Author: S. Burgstaller
Author: S. Kreil
Author: K. Waghorn
Author: G. Metzgeroth
Author: C. Preudhomme
Author: K. Zoi
Author: H. White
Author: D. Cilloni
Author: C. Zoi
Author: F. Brito-Babapulle
Author: C. Walz
Author: A. Reiter
Author: N.C. Cross ORCID iD

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of https://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×