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  • Aad, G., et al. (author)
  • 2013
  • In: The European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6052. ; 73:3
  • Journal article (peer-reviewed)
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8.
  • Aad, G., et al. (author)
  • 2015
  • Journal article (peer-reviewed)
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12.
  • Aad, G., et al. (author)
  • 2015
  • In: Journal of High Energy Physics. - 1029-8479 .- 1126-6708. ; :8
  • Journal article (peer-reviewed)
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16.
  • Abazov, V. M., et al. (author)
  • Study of the decay B-s(0)->(DsDs(*))-D-(*)
  • 2007
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 99:24
  • Journal article (peer-reviewed)abstract
    • We report a study of the decay B-s(0)->(DsDs(*))-D-(*) using a data sample corresponding to 1.3 fb(-1) of integrated luminosity collected by the D0 experiment in 2002-2006 during run II of the Fermilab Tevatron collider. One D-s((*)) meson was partially reconstructed in the decay D-s ->phi mu nu, and the other D-s((*)) meson was identified using the decay D-s ->phi pi where no attempt was made to distinguish D-s and D-s(*) states. For the branching fraction Br(B-s(0)->(DsDs(*))-D-(*)) we obtain a 90% C.L. range [0.002,0.080] and central value 0.039(-0.017)(+0.019)(stat)(-0.015)(+0.016)(syst). This was subsequently used to make the most precise estimate of the width difference Delta Gamma(CP)(s) in the B-s(0)-(B)over bar(s)(0) system: Delta Gamma(CP)(s)/Gamma(s)=0.079(-0.035)(+0.038)(stat)(-0.030)(+0.031)(syst).
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17.
  • Abazov, V. M., et al. (author)
  • Evidence for production of single top quarks and first direct measurement of vertical bar V-tb vertical bar
  • 2007
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 98:18, s. 181802-
  • Journal article (peer-reviewed)abstract
    • The D0 Collaboration presents first evidence for the production of single top quarks at the Fermilab Tevatron < p(p)over bar > collider. Using a 0.9 fb(-1) dataset, we apply a multivariate analysis to separate signal from background and measure sigma(< p(p)over bar >-> tb+X,tqb+X)=4.9 +/- 1.4 pb. The probability to measure a cross section at this value or higher in the absence of a signal is 0.035%, corresponding to a 3.4 standard deviation significance. We use the cross section measurement to directly determine the Cabibbo-Kobayashi-Maskawa matrix element that describes the Wtb coupling and find 0.68 <= 1 at 95% C.L. within the standard model.
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18.
  • Abazov, V. M., et al. (author)
  • Search for single production of scalar leptoquarks in p(p)over-bar collisions decaying into muons and quarks with the D0 detector
  • 2007
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 647:2-3, s. 74-81
  • Journal article (peer-reviewed)abstract
    • lWe report on a search for second generation leptoquarks (LQ(2)) which decay into a muon plus quark in (p) over barp collisions at a center-of-mass energy of root s = 1.96 TeV in the DO detector using an integrated luminosity of about 300 pb(-1). No evidence for a leptoquark signal is observed and an upper bound on the product of the cross section for single leptoquark production times branching fraction into a quark and a muon was determined for second generation scalar leptoquaiks as a function of the leptoquark mass. This result has been combined with a previously published DO search for leptoquark pair production to obtain leptoquark mass limits as a function of the leptoquark-muon-quark coupling, lambda. Assuming lambda = 1, lower limits on the mass of a second generation scalar leptoquark coupling to a u quark and a muon are m(LQ2) > 274 GeV and m(LQ2) > 226 GeV for beta = 1 and beta = 1/2, respectively.
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19.
  • Abazov, V. M., et al. (author)
  • Search for techniparticles in e plus jets events at D0
  • 2007
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 98:22, s. 221801-
  • Journal article (peer-reviewed)abstract
    • We search for the technicolor process p(p) over bar ->rho(T)/omega(T)-> W pi(T) in events containing one electron and two jets, in data corresponding to an integrated luminosity of 390 pb(-1), recorded by the D0 experiment at the Fermilab Tevatron. Technicolor predicts that technipions pi(T) decay dominantly into b(b) over bar, b(c) over bar, or (b) over barc, depending on their charge. In these events b and c quarks are identified by their secondary decay vertices within jets. Two analysis methods based on topological variables are presented. Since no excess above the standard model prediction was found, the result is presented as an exclusion in the pi(T) vs rho(T) mass plane for a given set of model parameters.
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20.
  • Abazov, V. M., et al. (author)
  • Experimental discrimination between charge 2e/3 top quark and charge 4e/3 exotic quark production scenarios
  • 2007
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 98:4, s. 041801-
  • Journal article (peer-reviewed)abstract
    • We present the first experimental discrimination between the 2e/3 and 4e/3 top quark electric charge scenarios, using top quark pairs (t (t) over bar) produced in p (p) over bar collisions at root s =1.96 TeV by the Fermilab Tevatron Collider. We use 370 pb(-1) of data collected by the D0 experiment and select events with at least one high transverse momentum electron or muon, high transverse energy imbalance, and four or more jets. We discriminate between b- and (b) over bar -quark jets by using the charge and momenta of tracks within the jet cones. The data are consistent with the expected electric charge, |q|=2e/3. We exclude, at the 92% C.L., that the sample is solely due to the production of exotic quark pairs Q (Q) over bar with |q|=4e/3. We place an upper limit on the fraction of Q (Q) over bar pairs rho < 0.80 at the 90% C.L.
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21.
  • Abazov, V. M., et al. (author)
  • Lifetime difference and CP-violating phase in the B-s(0) system
  • 2007
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 98:12, s. 121801-
  • Journal article (peer-reviewed)abstract
    • From an analysis of the decay B-s(0)-> J/psi phi, we obtain the width difference between the light and heavy mass eigenstates Delta Gamma equivalent to(Gamma(L)-Gamma(H))=0.17 +/- 0.09(stat)+/- 0.02(syst) ps(-1) and the CP-violating phase phi(s)=-0.79 +/- 0.56(stat)(-0.01)(+0.14)(syst). Under the hypothesis of no CP violation (phi(s)equivalent to 0), we obtain 1/Gamma=tau/(B-s(0))=1.52 +/- 0.08(stat)(-0.03)(+0.01)(syst) ps and Delta Gamma=0.12(-0.10)(+0.08)(stat)+/- 0.02(syst) ps(-1). The data sample corresponds to an integrated luminosity of about 1.1 fb(-1) accumulated with the D0 detector at the Fermilab Tevatron collider. This is the first direct measurement of the CP-violating mixing phase in the B-s(0) system.
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22.
  • Abazov, V. M., et al. (author)
  • Measurement of the charge asymmetry in semileptonic B-s(0) decays
  • 2007
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 98:15, s. 151801-
  • Journal article (peer-reviewed)abstract
    • We have performed the first direct measurement of the time-integrated flavor untagged charge asymmetry in semileptonic B-s(0) decays A(SL)(s,unt) by comparing the decay rate of B-s(0) -> mu(+) D-s(-) nu X, where D-s(-) -> phi pi(-) and phi -> K+K-, with the charge-conjugate (B) over bar (0)(s) decay rate. This sample was selected from 1: 3 fb(-1) of data collected by the D0 experiment in run II of the Fermilab Tevatron collider. We obtain A(SL)(s,unt) = [1.23 +/- 0.97(stat) +/- 0.17(syst)] x 10(-2). Assuming that Delta m(s)/(Gamma) over bar (s) >> 1, this result can be translated into a measurement of the CP-violating phase in B-s(0) mixing: Delta Gamma(s)/Delta m(s) tan phi(s) = [2.45 +/- 1.93(stat) +/- 0.35(syst)] x 10(-2).
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23.
  • Abazov, V. M., et al. (author)
  • Model-independent measurement of the W-boson helicity in top-quark decays at D0
  • 2008
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 100:6
  • Journal article (peer-reviewed)abstract
    • We present the first model-independent measurement of the helicity of W bosons produced in top quark decays, based on a 1 fb(-1) sample of candidate t (t) over bar events in the dilepton and lepton plus jets channels collected by the D0 detector at the Fermilab Tevatron p (p) over bar Collider. We reconstruct the angle theta(*) between the momenta of the down-type fermion and the top quark in the W boson rest frame for each top quark decay. A fit of the resulting cos theta(*) distribution finds that the fraction of longitudinal W bosons f(0)=0.425 +/- 0.166(stat)+/- 0.102(syst) and the fraction of right-handed W bosons f(+)=0.119 +/- 0.090(stat)+/- 0.053(syst), which is consistent at the 30% C.L. with the standard model.
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24.
  • Abazov, V. M., et al. (author)
  • Measurement of the Lifetime of the B-c(+/-) Meson in the Semileptonic Decay Channel
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:9, s. 092001-
  • Journal article (peer-reviewed)abstract
    • Using approximately 1.3 fb(-1) of data collected by the D0 detector between 2002 and 2006, we measure the lifetime of the B-c(+/-) meson in the B-c(+/-)-> J/psi mu(+/-)+X final state. A simultaneous unbinned likelihood fit to the J/psi+mu invariant mass and lifetime distributions yields a signal of 881 +/- 80(stat) candidates and a lifetime measurement of tau(B-c(+/-))=0.448(-0.036)(+0.038)(stat)+/- 0.032(syst) ps.
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25.
  • Abazov, V. M., et al. (author)
  • Search for Anomalous Top-Quark Couplings with the D0 Detector
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:9, s. 092002-
  • Journal article (peer-reviewed)abstract
    • Anomalous Wtb couplings modify the angular correlations of the top-quark decay products and change the single top-quark production cross section. We present limits on anomalous top-quark couplings by combining information from W boson helicity measurements in top-quark decays and anomalous coupling searches in the single top-quark final state. We set limits on right-handed vector couplings as well as left-handed and right-handed tensor couplings based on about 1 fb(-1) of data collected by the D0 experiment.
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26.
  • Abazov, V. M., et al. (author)
  • Measurement of the top quark mass in final states with two leptons
  • 2009
  • In: Physical Review D - Particles, Fields, Gravitation and Cosmology. - 1550-7998 .- 1550-2368. ; 80, s. 092006-
  • Journal article (peer-reviewed)abstract
    • We present measurements of the top quark mass (m(t)) in tt candidate events with two final state leptons using 1 fb(-1) of data collected by the D0 experiment. Our data sample is selected by requiring two fully identified leptons or by relaxing one lepton requirement to an isolated track if at least one jet is tagged as a b jet. The top quark mass is extracted after reconstructing the event kinematics under the tt hypothesis using two methods. In the first method, we integrate over expected neutrino rapidity distributions, and in the second we calculate a weight for the possible top quark masses based on the observed particle momenta and the known parton distribution functions. We analyze 83 candidate events in the data and obtain m(t)=176.2 +/- 4.8(stat)+/- 2.1(sys) GeV and m(t)=173.2 +/- 4.9(stat)+/- 2.0(sys) GeV for the two methods, respectively. Accounting for correlations between the two methods, we combine the measurements to obtain m(t)=174.7 +/- 4.4(stat)+/- 2.0(sys) GeV.
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27.
  • Abazov, M, et al. (author)
  • Combination of t(t)over-bar cross section measurements and constraints on the mass of the top quark and its decays into charged Higgs bosons
  • 2009
  • In: Physical Review D. - 1550-7998 .- 1550-2368. ; 80, s. 071102-
  • Journal article (peer-reviewed)abstract
    • We combine measurements of the top quark pair production cross section in p (p) over bar collisions in the l + jets, ll, and tau l final states ( where l is an electron or muon) at a center of mass energy of root s = 1.96 TeV in 1 fb(-1) of data collected with the D0 detector. For a top quark mass of 170 GeV/c(2), we obtain sigma(t (t) over bar) = 8.18(-0.87)(+0.98) pb in agreement with the theoretical prediction. Based on predictions from higher order quantum chromodynamics, we extract a mass for the top quark from the combined t (t) over bar cross section, consistent with the world average of the top quark mass. In addition, the ratios of t (t) over bar cross sections in different final states are used to set upper limits on the branching fractions B(t -> H(+)b -> tau(+) vb) and B(t -> H(+)b -> c (s) over barb) as a function of the charged Higgs boson mass.
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28.
  • Abazov, M, et al. (author)
  • Measurement of gamma + b + X and gamma + c + X Production Cross Sections in pp > Collisions at s=1.96 TeV
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:19, s. 192002-
  • Journal article (peer-reviewed)abstract
    • First measurements of the differential cross sections d(3)sigma/(dp(T)(gamma)dy(gamma)dy(jet)) for the inclusive production of a photon in association with a heavy quark (b, c) jet are presented, covering photon transverse momenta 30 < p(T)(gamma)< 150 GeV, photon rapidities |y(gamma)|< 1.0, jet rapidities |y(jet)|< 0.8, and jet transverse momenta p(T)(jet)> 15 GeV. The results are based on an integrated luminosity of 1 fb(-1) in pp collisions at s=1.96 TeV recorded with the D0 detector at the Fermilab Tevatron Collider. The results are compared with next-to-leading order perturbative QCD predictions.
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29.
  • Abazov, M, et al. (author)
  • Measurement of the t(t)over-bar production cross section and top quark mass extraction using dilepton events in p(p)over-bar collisions
  • 2009
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 679:3, s. 177-185
  • Journal article (peer-reviewed)abstract
    • We present a measurement of the top quark pair production cross section in p (p) over bar collisions at root s = 1.96 TeV using approximately 1 fb(-1) collected with the DO detector. We consider decay channels containing two high p(T) charged leptons where one lepton is identified as an electron or a muon while the other lepton can be an electron, a muon or a hadronically decaying tau lepton. For a mass of the top quark of 170 GeV, the measured cross section is 7.5(-1.0)(+1.0)(stat)(-0.6)(+0.7)(syst)(-0.5)(+0.6)(lumi) pb. Using l tau events only, we measure: sigma(t (t) over bar) x B(t (t) over bar -> l tau b (b) over bar) = 0.13(-0.08)(+0.09)(stat)(-0.06)(+0.06)(syst)(-0.02)(+0.02)(lumi) pb. Comparing the measured cross section as a function of the mass of the top quark with a partial next-to-next-to leading order Quantum Chroniodynamics theoretical prediction, we extract a mass of the top quark of 171.5(-8.8)(+9-9) GeV, in agreement with direct measurements.
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30.
  • Abazov, M, et al. (author)
  • Observation of Single Top-Quark Production
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 103:9, s. 092001-
  • Journal article (peer-reviewed)abstract
    • We report observation of the electroweak production of single top quarks in pp collisions at s=1.96 TeV based on 2.3 fb(-1) of data collected by the D0 detector at the Fermilab Tevatron Collider. Using events containing an isolated electron or muon and missing transverse energy, together with jets originating from the fragmentation of b quarks, we measure a cross section of sigma(pp -> tb+X,tqb+X)=3.94 +/- 0.88 pb. The probability to measure a cross section at this value or higher in the absence of signal is 2.5x10(-7), corresponding to a 5.0 standard deviation significance for the observation.
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31.
  • Abazov, M, et al. (author)
  • Relative rates of B meson decays into psi(2S) and J/psi mesons
  • 2009
  • In: Physical Review D. - 1550-7998 .- 1550-2368. ; 79, s. 111102-
  • Journal article (peer-reviewed)abstract
    • We report on a study of the relative rates of B meson decays into psi(2S) and J/psi mesons using 1.3 fb(-1) of p (p) over bar collisions at root s = 1.96 TeV recorded by the D0 detector operating at the Fermilab Tevatron Collider. We observe the channels B-s(0) -> psi(2S)phi, B-s(0) -> J/psi phi, B-+/- -> psi(2S)K-+/-, and B-+/- -> J/psi K-+/- and we measure the relative branching fractions for these channels to be B(B-s(0) -> psi(2S)phi)/B(B-s(0) -> J/psi phi)=0.53 +/- 0.10(stat)+/- 0.07(syst)+/- 0.06(B), B(B+ -> psi(2S)K+)/B(B+ -> J/psi K+)=0.63 +/- 0.05(stat)+/- 0.03(syst)+/- 0.07(B), where the final error corresponds to the uncertainty in the J/psi and psi(2S) branching ratio into two muons.
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32.
  • Abazov, M, et al. (author)
  • Search for associated production of charginos and neutralinos in the trilepton final state using 2.3 fb(-1) of data
  • 2009
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 680:1, s. 34-43
  • Journal article (peer-reviewed)abstract
    • We report the results of a search for associated production of charginos and neutralinos using a data set corresponding to an integrated luminosity of 2.3 fb(-1) collected with the Demptyset experiment during Run II of the Tevatron proton-antiproton collider. Final states containing three charged leptons and missing transverse energy are probed for a signal from supersymmetry with four dedicated trilepton event selections. No evidence for a signal is observed, and we set limits on the product of production cross section and leptonic branching fraction. Within minimal supergravity, these limits translate into bounds on m(0) and m(1/2) that are well beyond existing limits.
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33.
  • Abazov, M, et al. (author)
  • Search for Charged Higgs Bosons Decaying into Top and Bottom Quarks in pp Collisions
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:19, s. 191802-
  • Journal article (peer-reviewed)abstract
    • We describe a search for production of a charged Higgs boson, qq>-> H+, reconstructed in the tb final state in the mass range 180 <= M-H(+)<= 300 GeV. The search was undertaken at the Fermilab Tevatron collider with a center-of-mass energy s=1.96 TeV and uses 0.9 fb(-1) of data collected with the D0 detector. We find no evidence for charged Higgs boson production and set upper limits on the production cross section in the types I, II, and III two-Higgs-doublet models (2HDMs). An excluded region in the (M-H(+), tan beta) plane for type I 2HDM is presented.
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34.
  • Abazov, M, et al. (author)
  • Search for Resonant Diphoton Production with the D0 Detector
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:23, s. 231801-
  • Journal article (peer-reviewed)abstract
    • We present a search for a narrow resonance in the inclusive diphoton final state using similar to 2.7 fb(-1) of data collected with the D0 detector at the Fermilab Tevatron p (p) over bar Collider. We observe good agreement between the data and the background prediction, and set the first 95% C. L. upper limits on the production cross section times the branching ratio for decay into a pair of photons for resonance masses between 100 and 150 GeV. This search is also interpreted in the context of several models of electroweak symmetry breaking with a Higgs boson decaying into two photons.
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35.
  • Abazov, M, et al. (author)
  • Search for the Standard Model Higgs Boson in Tau Final States
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:25, s. 251801-
  • Journal article (peer-reviewed)abstract
    • We present a search for the standard model Higgs boson using hadronically decaying tau leptons, in 1 fb(-1) of data collected with the D0 detector at the Fermilab Tevatron pp collider. We select two final states: tau(+/-) plus missing transverse energy and b jets, and tau(+)tau(-) plus jets. These final states are sensitive to a combination of associated W/Z boson plus Higgs boson, vector boson fusion, and gluon-gluon fusion production processes. The observed ratio of the combined limit on the Higgs production cross section at the 95% C.L. to the standard model expectation is 29 for a Higgs boson mass of 115 GeV.
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36.
  • Abazov, M, et al. (author)
  • Evidence of WW and WZ Production with lepton plus jets Final States in pp Collisions at root s=1.96 TeV
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:16, s. 161801-
  • Journal article (peer-reviewed)abstract
    • We present first evidence for WW+WZ production in lepton+jets final states at a hadron collider. The data correspond to 1.07 fb(-1) of integrated luminosity collected with the D0 detector at the Fermilab Tevatron in pp collisions at root s=1.96 TeV. The observed cross section for WW+WZ production is 20.2 +/- 4.5 pb, consistent with the standard model and more precise than previous measurements in fully leptonic final states. The probability that background fluctuations alone produce this excess is < 5.4x10(-6), which corresponds to a significance of 4.4 standard deviations.
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37.
  • Abazov, M, et al. (author)
  • Search for Long-Lived Charged Massive Particles with the D0 Detector
  • 2009
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:16, s. 161802-
  • Journal article (peer-reviewed)abstract
    • We search for long-lived charged massive particles using 1.1 fb(-1) of data collected by the D0 detector at the Fermilab Tevatron pp Collider. Time-of-flight information is used to search for pair produced long-lived tau sleptons, gauginolike charginos, and Higgsino-like charginos. We find no evidence of a signal and set 95% C.L. cross section upper limits for staus, which vary from 0.31 to 0.04 pb for stau masses between 60 and 300 GeV. We also set lower mass limits of 206 GeV (171 GeV) for pair produced charged gauginos (Higgsinos).
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38.
  • Wang, Zhaoming, et al. (author)
  • Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
  • 2014
  • In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
  • Journal article (peer-reviewed)abstract
    • Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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39.
  • Conti, David, V, et al. (author)
  • Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
  • 2021
  • In: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 53:1, s. 65-75
  • Journal article (peer-reviewed)abstract
    • Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction. A meta-analysis of genome-wide association studies across different populations highlights new risk loci and provides a genetic risk score that can stratify prostate cancer risk across ancestries.
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40.
  • Wang, Anqi, et al. (author)
  • Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
  • 2023
  • In: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 55:12, s. 2065-2074
  • Journal article (peer-reviewed)abstract
    • The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-ancestry genome-wide association study of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer genome-wide association studies. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a greater risk of aggressive versus non-aggressive disease in men of African ancestry (P = 0.03). Our study presents novel prostate cancer susceptibility loci and a GRS with effective risk stratification across ancestry groups.
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41.
  • Berndt, Sonja I., et al. (author)
  • Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia
  • 2013
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:8, s. 868-U202
  • Journal article (peer-reviewed)abstract
    • Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 x 10(-14)), 18q21.33 (BCL2, P = 7.76 x 10(-11)), 11p15.5 (C11orf21, P = 2.15 x 10(-10)), 4q25 (LEF1, P = 4.24 x 10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 x 10(-9)), 9p21.3 (CDKN2B-AS1, P = 1.27 x 10(-8)), 18q21.32 (PMAIP1, P = 2.51 x 10(-8)), 15q15.1 (BMF, P = 2.71 x 10(-10)) and 2p22.2 (QPCT, P = 1.68 x 10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 x 10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 x 10(-8)) and 5p15.33 (TERT, P = 1.92 x 10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.
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42.
  • Berndt, Sonja I., et al. (author)
  • Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia
  • 2016
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Journal article (peer-reviewed)abstract
    • Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P = 2.55 x 10(-11)), 6p25.2 (rs73718779, SERPINB6, P = 1.97 x 10(-8)) and 3q28 (rs9815073, LPP, P = 3.62 x 10(-8)), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P = 1.00 x 10(-11)) in the combined analysis. We find suggestive evidence (P<5 x 10(-7)) for two additional new loci at 4q24 (rs10028805, BANK1, P = 7.19 x 10(-8)) and 3p22.2 (rs1274963, CSRNP1, P = 2.12 x 10(-7)). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility.
  •  
43.
  • Conde, Lucia, et al. (author)
  • Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
  • 2010
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:8, s. 661-664
  • Journal article (peer-reviewed)abstract
    • To identify susceptibility loci for non-Hodgkin lymphoma subtypes, we conducted a three-stage genome-wide association study. We identified two variants associated with follicular lymphoma at 6p21.32 (rs10484561, combined P = 1.12 x 10(-29) and rs7755224, combined P = 2.00 x 10(-19); r(2) = 1.0), supporting the idea that major histocompatibility complex genetic variation influences follicular lymphoma susceptibility. We also found confirmatory evidence of a previously reported association between chronic lymphocytic leukemia/small lymphocytic lymphoma and rs735665 (combined P = 4.24 x 10(-9)).
  •  
44.
  • Matejcic, Marco, et al. (author)
  • Germline variation at 8q24 and prostate cancer risk in men of European ancestry
  • 2018
  • In: Nature Communications. - : Springer Nature. - 2041-1723. ; 9
  • Journal article (peer-reviewed)abstract
    • Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. We identify 12 independent risk signals for prostate cancer (p < 4.28 x 10(-15)), including three risk variants that have yet to be reported. From a polygenic risk score (PRS) model, derived to assess the cumulative effect of risk variants at 8q24, men in the top 1% of the PRS have a 4-fold (95% CI = 3.62-4.40) greater risk compared to the population average. These 12 variants account for similar to 25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. These findings highlight the overwhelming contribution of germline variation at 8q24 on prostate cancer risk which has implications for population risk stratification.
  •  
45.
  • Nicolas, Aude, et al. (author)
  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
  • 2018
  • In: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
  • Journal article (peer-reviewed)abstract
    • To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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