22 research outputs found

    Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

    Get PDF
    Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a three-stage genome-wide association study of 3,437 MPN cases and 10,083 controls, we identify two SNPs with genome-wide significance in JAK2V617F-negative MPN: rs12339666 (JAK2; meta-analysis P=1.27 × 10−10) and rs2201862 (MECOM; meta-analysis P=1.96 × 10−9). Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2V617F-positive cases. rs9376092 has a stronger effect in JAK2V617F-negative cases with CALR and/or MPL mutations (Breslow–Day P=4.5 × 10−7), whereas in JAK2V617F-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ2 P=7.3 × 10−7). Reduced MYB expression, previously linked to development of an ET-like disease in model systems, associates with rs9376092 in normal myeloid cells. These findings demonstrate that multiple germline variants predispose to MPN and link constitutional differences in MYB expression to disease phenotype

    Transverse momentum spectra of charged particles in proton-proton collisions at s=900\sqrt{s} = 900 GeV with ALICE at the LHC

    Get PDF
    The inclusive charged particle transverse momentum distribution is measured in proton-proton collisions at s=900\sqrt{s} = 900 GeV at the LHC using the ALICE detector. The measurement is performed in the central pseudorapidity region (η<0.8)(|\eta|<0.8) over the transverse momentum range 0.15<pT<100.15<p_{\rm T}<10 GeV/cc. The correlation between transverse momentum and particle multiplicity is also studied. Results are presented for inelastic (INEL) and non-single-diffractive (NSD) events. The average transverse momentum for η<0.8|\eta|<0.8 is <pT>INEL=0.483±0.001\left<p_{\rm T}\right>_{\rm INEL}=0.483\pm0.001 (stat.) ±0.007\pm0.007 (syst.) GeV/cc and \left_{\rm NSD}=0.489\pm0.001 (stat.) ±0.007\pm0.007 (syst.) GeV/cc, respectively. The data exhibit a slightly larger <pT>\left<p_{\rm T}\right> than measurements in wider pseudorapidity intervals. The results are compared to simulations with the Monte Carlo event generators PYTHIA and PHOJET.Comment: 20 pages, 8 figures, 2 tables, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/390
    corecore