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    Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders

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    Authors
    Pardanani, Animesh Dev
    Fridley, Brooke L.
    Lasho, Terra L.
    Gilliland, D. Gary
    Tefferi, Ayalew
    UMass Chan Affiliations
    Division of Hematology
    Document Type
    Journal Article
    Publication Date
    2007-11-17
    Keywords
    Adolescent; Adult; Aged; Aged, 80 and over; Demography; Female; Genetic Predisposition to Disease; *Genetic Variation; Haplotypes; Humans; Janus Kinase 2; Linkage Disequilibrium; Male; Middle Aged; Myeloproliferative Disorders; Phenotype; Polycythemia Vera; Polymorphism, Single Nucleotide; Regression Analysis; Thrombocythemia, Essential
    Life Sciences
    Medicine and Health Sciences
    
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    Link to Full Text
    http://dx.doi.org/10.1182/blood-2007-06-095703
    Abstract
    JAK2V617F is an acquired mutation associated with polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). We tested the hypothesis that the paradox of a single disease allele associated with 3 distinctive clinical phenotypes could be explained in part by host-modifying influences. We screened for genetic variation within 4 candidate genes involved in JAK-STAT signaling, including receptors for erythropoietin (EPOR), thrombopoietin (MPL), and granulocyte colony-stimulating factor (GCSFR), and JAK2. We genotyped 32 linkage disequilibrium tag single nucleotide polymorphism (SNP) loci in 179 white patients: 84 had PV, 58 had PMF, and 37 had ET. Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. Finally, intragene haplotypes in JAK2 were significantly associated with PV only. Thus, host genetic variation may contribute to phenotypic diversity among myeloproliferative disorders, including in the presence of a shared disease allele.
    Source
    Blood. 2008 Mar 1;111(5):2785-9. Epub 2007 Nov 15. Link to article on publisher's site
    DOI
    10.1182/blood-2007-06-095703
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/32864
    PubMed ID
    18006699
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1182/blood-2007-06-095703
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