Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

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dc.contributor.authorGudbjartsson, D.
dc.contributor.authorBjornsdottir, U.
dc.contributor.authorHalapi, E.
dc.contributor.authorHelgadottir, A.
dc.contributor.authorSulem, P.
dc.contributor.authorJonsdottir, G.
dc.contributor.authorThorleifsson, G.
dc.contributor.authorHelgadottir, H.
dc.contributor.authorSteinthorsdottir, V.
dc.contributor.authorStefansson, H.
dc.contributor.authorWilliams, C.
dc.contributor.authorHui, J.
dc.contributor.authorBeilby, J.
dc.contributor.authorWarrington, N.
dc.contributor.authorJames, A.
dc.contributor.authorPalmer, L.
dc.contributor.authorKoppelman, G.
dc.contributor.authorHeinzmann, A.
dc.contributor.authorKrueger, M.
dc.contributor.authorBoezen, H.
dc.contributor.authoret al.
dc.date.issued2009
dc.description.abstractEosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Icelanders. The most significant SNPs were studied further in 12,118 Europeans and 5,212 East Asians. SNPs at 2q12 (rs1420101), 2q13 (rs12619285), 3q21 (rs4857855), 5q31 (rs4143832) and 12q24 (rs3184504) reached genome-wide significance (P = 5.3 x 10-14, 5.4 x 10-10, 8.6 x 10-17, 1.2 x 10-10 and 6.5 x 10-19, respectively). A SNP at IL1RL1 associated with asthma (P = 5.5 x 10-12) in a collection of ten different populations (7,996 cases and 44,890 controls). SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4.2 x 10-6, 2.2 x 10-5 and 2.4 x 10-4, respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10-8) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).
dc.description.statementofresponsibilityDaniel F Gudbjartsson ... Lyle J Palmer ... et al.
dc.identifier.citationNature Genetics, 2009; 41(3):342-347
dc.identifier.doi10.1038/ng.323
dc.identifier.issn1061-4036
dc.identifier.issn1546-1718
dc.identifier.orcidPalmer, L. [0000-0002-1628-3055]
dc.identifier.urihttp://hdl.handle.net/2440/88475
dc.language.isoen
dc.publisherNature Publishing Group
dc.rights© 2009 Nature America, Inc. All rights reserved.
dc.source.urihttps://doi.org/10.1038/ng.323
dc.subjectEosinophils
dc.subjectHumans
dc.subjectAsthma
dc.subjectMyocardial Infarction
dc.subjectGenetic Predisposition to Disease
dc.subjectIntracellular Signaling Peptides and Proteins
dc.subjectAdaptor Proteins, Signal Transducing
dc.subjectProteins
dc.subjectEye Proteins
dc.subjectReceptors, Cell Surface
dc.subjectAdaptor Proteins, Vesicular Transport
dc.subjectInterleukins
dc.subjectLeukocyte Count
dc.subjectCase-Control Studies
dc.subjectPolymorphism, Single Nucleotide
dc.subjectGenes, myb
dc.subjectAlgorithms
dc.subjectIceland
dc.subjectGenome-Wide Association Study
dc.subjectInterleukin-33
dc.subjectInterleukin-1 Receptor-Like 1 Protein
dc.titleSequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
dc.typeJournal article
pubs.publication-statusPublished

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