29 research outputs found

    Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

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    Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes

    Observation of a new boson at a mass of 125 GeV with the CMS experiment at the LHC

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    A determination of electroweak parameters from Z0→μ+μ- (γ)

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    A measurement of the Z0 leptonic partial widths and the vector and axial vector coupling constants

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    We have measured the partial widths of the Z0 into lepton pairs, and the forward-backward charge asymmetry for the process e+e--->[mu]+[mu]- using the L3 detector at LEP. We obtain an average [Gamma]ll of 83.0+/-2.1+/-1.1 MeV.From this result and the asymmetry measurement, we extract the values of the vector and axial vector couplings of the Z0 to leptons: grmv=-0.066-0.027+0.046 and grmA= -0.495-0.007+0.007.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/28666/3/0000483.pd

    Measurement of Z0 decays to hadrons, and a precise determination of the number of neutrino species

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    We have made a precise measurement of the cross section for e+e--->Z0-->hadrons with the L3 detector at LEP, covering the range from 88.28 to 95.04 GeV. From a fit to the Z0 mass, total width, and the hadronic cross section to be MZ0=91.160 +/- 0.024 (experiment) +/-0.030(LEP) GeV, [Gamma]Z0=2.539+/-0.054 GeV, and [sigma]h(MZ0)=29.5+/-0.7 nb. We also used the fit to the Z0 peak cross section and the width todetermine [Gamma]invisible=0.548+/-0.029 GeV, which corresponds to 3.29+/-0.17 species of light neutrinos. The possibility of four or more neutrino flavors is thus ruled out at the 4[sigma] confidence level.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/28683/3/0000500.pd

    Search for excited taus from Z0 decays

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    Test of QED in e+e−→γγ at LEP

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    Search for excited taus from Z0 decays

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    Contains fulltext : 27573.PDF (publisher's version ) (Open Access
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