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Sökning: WFRF:(Varga J.)

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1.
  • Tabiri, S, et al. (författare)
  • 2021
  • swepub:Mat__t
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2.
  • Bravo, L, et al. (författare)
  • 2021
  • swepub:Mat__t
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3.
  • Adam, J., et al. (författare)
  • Centrality dependence of inclusive J/psi production in p-Pb collisions at root S-NN=5.02TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :11
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a measurement of inclusive J/psi production in p-Pb collisions at root S-NN = 5.02 TeV as a function of the centrality of the collision, as estimated from the energy deposited in the Zero Degree Calorimeters. The measurement is performed with the ALICE detector down to zero transverse momentum, p(T), in the backward (-4.46 < y(cms) < -2.96) and forward (2.03 < y(cms) < 3.53) rapidity intervals in the dimuon decay channel and in the mid-rapidity region (-1.37 < y(cms) < 0.43) in the dielectron decay channel. The backward and forward rapidity intervals correspond to the Pb-going and p-going direction, respectively. The p(T)-differential J/psi production cross section at backward and forward rapidity is measured for several centrality classes, together with the corresponding average p(T) and p(T)(2) values. The nuclear modification factor is presented as a function of centrality for the three rapidity intervals, and as a function of p(T) for several centrality classes at backward and forward rapidity. At mid-and forward rapidity, the J/psi yield is suppressed up to 40% compared to that in pp interactions scaled by the number of binary collisions. The degree of suppression increases towards central p-Pb collisions at forward rapidity, and with decreasing p(T) of the J/psi. At backward rapidity, the nuclear modification factor is compatible with unity within the total uncertainties, with an increasing trend from peripheral to central p-Pb collisions.
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4.
  • Adam, J., et al. (författare)
  • Centrality dependence of high-p(T) D meson suppression in Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :11
  • Tidskriftsartikel (refereegranskat)abstract
    • The nuclear modification factor, R-AA, of the prompt charmed mesons D-0, D+ and D*+, and their antiparticles, was measured with the ALICE detector in Pb-Pb collisions at a centre-of-mass energy root s(NN) = 2 : 76 TeV in two transverse momentum intervals, 5 < p(T) < 8 GeV/c and 8 < p(T) < 16 GeV/c, and in six collision centrality classes. The R-AA shows a maximum suppression of a factor of 5{6 in the 10% most central collisions. The suppression and its centrality dependence are compatible within uncertainties with those of charged pions. A comparison with the R-AA of non-prompt J/psi from B meson decays, measured by the CMS Collaboration, hints at a larger suppression of D mesons in the most central collisions.
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5.
  • Adam, J., et al. (författare)
  • Measurement of jet quenching with semi-inclusive hadron-jet distributions in central Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the measurement of a new observable of jet quenching in central Pb-Pb collisions at root s(NN) = 2.76 TeV, based on the semi-inclusive rate of charged jets recoiling from a high transverse momentum (high-p T) charged hadron trigger. Jets are measured using collinear-safe jet reconstruction with infrared cutoff for jet constituents of 0.15 GeV, for jet resolution parameters R = 0.2, 0.4 and 0.5. Underlying event background is corrected at the event-ensemble level, without imposing bias on the jet population. Recoil jet spectra are reported in the range 20 < p(T,jet)(ch) < 100 GeV. Reference distributions for pp collisions at root s = 2.76TeV are calculated using Monte Carlo and NLO pQCD methods, which are validated by comparing with measurements in pp collisions at root s = 7TeV. The recoil jet yield in central Pb-Pb collisions is found to be suppressed relative to that in pp collisions. No significant medium-induced broadening of the intra-jet energy profile is observed within 0.5 radians relative to the recoil jet axis. The angular distribution of the recoil jet yield relative to the trigger axis is found to be similar in central Pb-Pb and pp collisions, with no significant medium-induced acoplanarity observed. Large-angle jet deflection, which may provide a direct probe of the nature of the quasi-particles in hot QCD matter, is explored.
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6.
  • Adam, J., et al. (författare)
  • One-dimensional pion, kaon, and proton femtoscopy in Pb-Pb collisions at root(NN)-N-S=2.76 TeV
  • 2015
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 92:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The size of the particle emission region in high-energy collisions can be deduced using the femtoscopic correlations of particle pairs at low relative momentum. Such correlations arise due to quantum statistics and Coulomb and strong final state interactions. In this paper, results are presented from femtoscopic analyses of pi(+/-) pi(+/-), K-+/- K-+/-, K-S(0) K-S(0), pp, and (pp) over bar correlations from Pb-Pb collisions at root s(NN) = 2.76 TeV by the ALICE experiment at the LHC. One-dimensional radii of the system are extracted from correlation functions in terms of the invariant momentum difference of the pair. The comparison of the measured radii with the predictions from a hydrokinetic model is discussed. The pion and kaon source radii display a monotonic decrease with increasing average pair transverse mass m(T) which is consistent with hydrodynamic model predictions for central collisions. The kaon and proton source sizes can be reasonably described by approximate m(T) scaling.
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7.
  • Adam, J., et al. (författare)
  • Inclusive, prompt and non-prompt J/psi production at mid-rapidity in Pb-Pb collisions at root S-NN=2.76 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :7
  • Tidskriftsartikel (refereegranskat)abstract
    • The transverse momentum (p(T)) dependence of the nuclear modification factor R-AA and the centrality dependence of the average transverse momentum for inclusive J/psi have been measured with ALICE for Pb-Pb collisions at root S-NN = 2.76TeV in the e(+)e(-) decay channel at mid-rapidity (vertical bar y vertical bar < 0.8). The is significantly smaller than the one observed for pp collisions at the same centre-of-mass energy. Consistently, an increase of RAA is observed towards low p(T). These observations might be indicative of a sizable contribution of charm quark coalescence to the J/psi production. Additionally, the fraction of non-prompt J/psi from beauty hadron decays, f(B), has been determined in the region 1.5 < p(T) < 10 GeV/c in three centrality intervals. No significant centrality dependence of fB is observed. Finally, the RAA of non-prompt J/psi is discussed and compared with model predictions. The nuclear modification in the region 4.5 < p(T) < 10 GeV/c is found to be stronger than predicted by most models.
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8.
  • Adam, J., et al. (författare)
  • Measurement of jet suppression in central Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 746, s. 1-14
  • Tidskriftsartikel (refereegranskat)abstract
    • The transverse momentum(p(T)) spectrum and nuclear modification factor (R-AA) of reconstructed jets in 0-10% and 10-30% central Pb-Pb collisions at root s(NN) = 2.76 TeV were measured. Jets were reconstructed using the anti-k(T) jet algorithm with a resolution parameter of R = 0.2 from charged and neutral particles, utilizing the ALICE tracking detectors and Electromagnetic Calorimeter (EMCal). The jet p(T) spectra are reported in the pseudorapidity interval of \eta(jet)\ < 0.5 for 40 < p(T), jet < 120 GeV/c in 0-10% and for 30 < p(T), jet < 100 GeV/c in 10-30% collisions. Reconstructed jets were required to contain a leading charged particle with p(T) > 5 GeV/c to suppress jets constructed from the combinatorial background in Pb-Pb collisions. The leading charged particle requirement applied to jet spectra both in pp and Pb-Pb collisions had a negligible effect on the R-AA. The nuclear modification factor R-AA was found to be 0.28 +/- 0.04 in 0-10% and 0.35 +/- 0.04 in 10-30% collisions, independent of p(T), jet within the uncertainties of the measurement. The observed suppression is in fair agreement with expectations from two model calculations with different approaches to jet quenching. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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9.
  • Adam, J, et al. (författare)
  • Measurement of pion, kaon and proton production in proton-proton collisions at [Formula: see text] TeV.
  • 2015
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 75:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The measurement of primary [Formula: see text], [Formula: see text], [Formula: see text] and [Formula: see text] production at mid-rapidity ([Formula: see text] 0.5) in proton-proton collisions at [Formula: see text][Formula: see text] 7 TeV performed with a large ion collider experiment at the large hadron collider (LHC) is reported. Particle identification is performed using the specific ionisation energy-loss and time-of-flight information, the ring-imaging Cherenkov technique and the kink-topology identification of weak decays of charged kaons. Transverse momentum spectra are measured from 0.1 up to 3 GeV/[Formula: see text] for pions, from 0.2 up to 6 GeV/[Formula: see text] for kaons and from 0.3 up to 6 GeV/[Formula: see text] for protons. The measured spectra and particle ratios are compared with quantum chromodynamics-inspired models, tuned to reproduce also the earlier measurements performed at the LHC. Furthermore, the integrated particle yields and ratios as well as the average transverse momenta are compared with results at lower collision energies.
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10.
  • Adam, J., et al. (författare)
  • Coherent psi (2S) photo-production in ultra-peripheral Pb-Pb collisions at root s(NN)=2.76TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 751, s. 358-370
  • Tidskriftsartikel (refereegranskat)abstract
    • We have performed the first measurement of the coherent psi(2S) photo-production cross section in ultraperipheral Pb-Pb collisions at the LHC. This charmonium excited state is reconstructed via the psi(2S) -> l(+)l(-) and ->(2S) -> J/psi pi(+)pi(-) decays, where the J/psi decays into two leptons. The analysis is based on an event sample corresponding to an integrated luminosity of about 22 mu b(-1). The cross section for coherent psi(2S) production in the rapidity interval -0.9 < y < 0.9is d sigma(coh)(psi(2S))/dy = 0.83 +/- 0.19 (stat+syst) mb. The psi(2S) to J/psi coherent cross section ratio is 0.34(-0.07)(+0.08)(stat+syst). The obtained results are compared to predictions from theoretical models. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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11.
  • Adam, J., et al. (författare)
  • Coherent rho(0) photoproduction in ultra-peripheral Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the first measurement at the LHC of coherent photoproduction of rho(0) mesons in ultra-peripheral Pb-Pb collisions. The invariant mass and transverse momentum distributions for rho(0) production are studied in the pi(+)pi(-) decay channel at mid-rapidity. The production cross section in the rapidity range vertical bar y vertical bar < 0.5 is found to be d sigma/dy = 425 +/- 10 (stat.) (+42)(-50) (sys.) mb. Coherent rho(0) production is studied with and without requirement of nuclear breakup, and the fractional yields for various breakup scenarios are presented. The results are compared with those from lower energies and with model predictions.
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12.
  • Adam, J., et al. (författare)
  • Forward-backward multiplicity correlations in pp collisions at root s=0.9, 2.76 and 7 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :5
  • Tidskriftsartikel (refereegranskat)abstract
    • The strength of forward-backward (FB) multiplicity correlations is measured by the ALICE detector in proton-proton (pp) collisions at = 0.9, 2.76 and 7 TeV. The measurement is performed in the central pseudorapidity region (|eta| < 0.8) for the transverse momentum p (T) > 0.3 GeV/c. Two separate pseudorapidity windows of width (delta eta) ranging from 0.2 to 0.8 are chosen symmetrically around eta = 0. The multiplicity correlation strength (b (corr)) is studied as a function of the pseudorapidity gap (eta (gap)) between the two windows as well as the width of these windows. The correlation strength is found to decrease with increasing eta (gap) and shows a non-linear increase with delta eta. A sizable increase of the correlation strength with the collision energy, which cannot be explained exclusively by the increase of the mean multiplicity inside the windows, is observed. The correlation coefficient is also measured for multiplicities in different configurations of two azimuthal sectors selected within the symmetric FB eta-windows. Two different contributions, the short-range (SR) and the long-range (LR), are observed. The energy dependence of b (corr) is found to be weak for the SR component while it is strong for the LR component. Moreover, the correlation coefficient is studied for particles belonging to various transverse momentum intervals chosen to have the same mean multiplicity. Both SR and LR contributions to b (corr) are found to increase with p (T) in this case. Results are compared to PYTHIA and PHOJET event generators and to a string-based phenomenological model. The observed dependencies of b (corr) add new constraints on phenomenological models.
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13.
  • Adam, J., et al. (författare)
  • Measurement of charged jet production cross sections and nuclear modification in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 749, s. 68-81
  • Tidskriftsartikel (refereegranskat)abstract
    • Charged jet production cross sections in p-Pb collisions at root s(NN) = 5.02 TeV measured with the ALICE detector at the LHC are presented. Using the anti-k(T) algorithm, jets have been reconstructed in the central rapidity region from charged particles with resolution parameters R = 0.2 and R = 0.4. The reconstructed jets have been corrected for detector effects and the underlying event background. To calculate the nuclear modification factor, R-pPb, of charged jets in p-Pb collisions, a pp reference was constructed by scaling previously measured charged jet spectra at root s = 7 TeV. In the transverse momentum range 20 <= p(T, chjet) <= 120 GeV/c, R-pPb is found to be consistent with unity, indicating the absence of strong nuclear matter effects on jet production. Major modifications to the radial jet structure are probed via the ratio of jet production cross sections reconstructed with the two different resolution parameters. This ratio is found to be similar to the measurement in pp collisions at root s = 7 TeV and to the expectations from PYTHIA pp simulations and NLO pQCD calculations at root s(NN) = 5.02 TeV. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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14.
  • Adam, J., et al. (författare)
  • Measurement of charm and beauty production at central rapidity versus charged-particle multiplicity in proton-proton collisions at root s=7 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • Prompt D meson and non-prompt J/psi yields are studied as a function of the multiplicity of charged particles produced in inelastic proton-proton collisions at a centre-of-mass energy of root s = 7 TeV. The results are reported as a ratio between yields in a given multiplicity interval normalised to the multiplicity-integrated ones (relative yields). They are shown as a function of the multiplicity of charged particles normalised to the average value for inelastic collisions (relative charged-particle multiplicity). D-0, D+ and D*+ mesons are measured in five p(T) intervals from 1 GeV/c to 20 GeV/c and for |y| < 0.5 via their hadronic decays. The D-meson relative yield is found to increase with increasing charged-particle multiplicity. For events with multiplicity six times higher than the average multiplicity of inelastic collisions, a yield enhancement of a factor about 15 relative to the multiplicity-integrated yield in inelastic collisions is observed. The yield enhancement is independent of transverse momentum within the uncertainties of the measurement. The D-0-meson relative yield is also measured as a function of the relative multiplicity at forward pseudo-rapidity. The non-prompt J/psi, i.e. the B hadron, contribution to the inclusive J/psi production is measured in the di-electron decay channel at central rapidity. It is evaluated for p(T) > 1.3 GeV/c and |y| < 0.9, and extrapolated to p(T) > 0. The fraction of non-prompt J/psi the inclusive J/psi yields shows no dependence on the charged-particle multiplicity at central rapidity. Charm and beauty hadron relative yields exhibit a similar increase with increasing charged-particle multiplicity. The measurements are compared to PYTHIA 8, EPOS 3 and percolation calculations.
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15.
  • Adam, J., et al. (författare)
  • Measurement of dijet k(T) in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 746, s. 385-395
  • Tidskriftsartikel (refereegranskat)abstract
    • A measurement of dijet correlations in p-Pb collisions at root s(NN) = 5.02 TeV with the ALICE detector is presented. Jets are reconstructed from charged particles measured in the central tracking detectors and neutral energy deposited in the electromagnetic calorimeter. The transverse momentum of the full jet (clustered from charged and neutral constituents) and charged jet (clustered from charged particles only) is corrected event-by-event for the contribution of the underlying event, while corrections for underlying event fluctuations and finite detector resolution are applied on an inclusive basis. A projection of the dijet transverse momentum, k(Ty) = p(T,jet)(ch+ne) sin(Delta phi(dijet)) with Delta phi(dijet) the azimuthal angle between a full and charged jet and p(T,jet)(ch+ne) the transverse momentum of the full jet, is used to study nuclear matter effects in p-Pb collisions. This observable is sensitive to the acoplanarity of dijet production and its potential modificationin p-Pb collisions with respect to pp collisions. Measurements of the dijet k(Ty) as a function of the transverse momentum of the full and recoil charged jet, and the event multiplicity are presented. No significant modification of k(Ty) due to nuclear matter effects in p-Pb collisions with respect to the event multiplicity or a PYTHIA8 reference is observed. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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16.
  • Adam, J., et al. (författare)
  • Precision measurement of the mass difference between light nuclei and anti-nuclei
  • 2015
  • Ingår i: Nature Physics. - 1745-2473. ; 11:10, s. 120-811
  • Tidskriftsartikel (refereegranskat)abstract
    • The measurement of the mass differences for systems bound by the strong force has reached a very high precision with protons and anti-protons(1,2). The extension of such measurement from (anti-)baryons to (anti-) nuclei allows one to probe any difference in the interactions between nucleons and anti-nucleons encoded in the (anti-) nuclei masses. This force is a remnant of the underlying strong interaction among quarks and gluons and can be described by effective theories(3), but cannot yet be directly derived from quantum chromodynamics. Here we report a measurement of the difference between the ratios of the mass and charge of deuterons (d) and anti-deuterons ((d) over bar), and He-3 and (3)(He) over bar nuclei carried out with the ALICE (A Large Ion Collider Experiment)(4) detector in Pb-Pb collisions at a centre-of-mass energy per nucleon pair of 2.76 TeV. Our direct measurement of the mass-over-charge differences confirms CPT invariance to an unprecedented precision in the sector of light nuclei(5,6). This fundamental symmetry of nature, which exchanges particles with anti-particles, implies that all physics laws are the same under the simultaneous reversal of charge(s) (charge conjugation C), reflection of spatial coordinates (parity transformation P) and time inversion (T).
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17.
  • Adam, J., et al. (författare)
  • Rapidity and transverse-momentum dependence of the inclusive J/psi nuclear modification factor in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :6
  • Tidskriftsartikel (refereegranskat)abstract
    • We have studied the transverse-momentum (p(T)) dependence of the inclusive J/psi production in p-Pb collisions at root s(NN) = 5.02 TeV, in three center-of-mass rapidity (y(cms)) regions, down to zero p(T). Results in the forward and backward rapidity ranges (2.03 < y(cms) < 3.53 and -4.46 < y(cms) < -2.96) are obtained by studying the J/psi decay to mu(+)mu(-), while the mid-rapidity region (-1.37 < y(cms) < 0.43) is investigated by measuring the e(+)e(-) decay channel. The p(T) dependence of the J/psi production cross section and nuclear modification factor are presented for each of the rapidity intervals, as well as the J/psi mean p(T) values. Forward and mid-rapidity results show a suppression of the J/psi yield, with respect to pp collisions, which decreases with increasing p(T). At backward rapidity no significant J/psi suppression is observed. Theoretical models including a combination of cold nuclear matter effects such as shadowing and partonic energy loss, are in fair agreement with the data, except at forward rapidity and low transverse momentum. The implications of the p-Pb results for the evaluation of cold nuclear matter effects on J/psi production in Pb-Pb collisions are also discussed.
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18.
  • Adam, J., et al. (författare)
  • Search for weakly decaying (Lambda n)over-bar and Lambda Lambda exotic bound states in central Pb-Pb collisions at root S-NN=2.76 TeV
  • 2016
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 752, s. 267-277
  • Tidskriftsartikel (refereegranskat)abstract
    • We present results of a search for two hypothetical strange dibaryon states, i.e. the H-dibaryon and the possible (Lambda n) over bar bound state. The search is performed with the ALICE detector in central (0-10%) Pb-Pb collisions at root S-NN = 2.76 TeV, by invariant mass analysis in the decay modes (Lambda n) over bar (d) over bar pi(+) and H-dibaryon -> Lambda p pi(-). No evidence for these bound states is observed. Upper limits are determined at 99% confidence level for a wide range of lifetimes and for the full range of branching ratios. The results are compared to thermal, coalescence and hybrid UrQMD model expectations, which describe correctly the production of other loosely bound states, like the deuteron and the hypertriton. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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19.
  • Adam, J., et al. (författare)
  • Two-pion femtoscopy in p-Pb collisions at root(NN)-N-S=5.02 TeV
  • 2015
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 91:3
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the results of the femtoscopic analysis of pairs of identical pions measured in p-Pb collisions at root(NN)-N-S = 5.02 TeV. Femtoscopic radii are determined as a function of event multiplicity and pair momentum in three spatial dimensions. As in the pp collision system, the analysis is complicated by the presence of sizable background correlation structures in addition to the femtoscopic signal. The radii increase with event multiplicity and decrease with pair transverse momentum. When taken at comparable multiplicity, the radii measured in p-Pb collisions, at high multiplicity and low pair transverse momentum, are 10%-20% higher than those observed in pp collisions but below those observed in A-A collisions. The results are compared to hydrodynamic predictions at large event multiplicity as well as discussed in the context of calculations based on gluon saturation.
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20.
  • Adam, J., et al. (författare)
  • Centrality dependence of particle production in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 91:6
  • Tidskriftsartikel (refereegranskat)abstract
    • We report measurements of the primary charged-particle pseudorapidity density and transverse momentum distributions in p-Pb collisions at root s(NN) = 5.02 TeV and investigate their correlation with experimental observables sensitive to the centrality of the collision. Centrality classes are defined by using different event-activity estimators, i.e., charged-particle multiplicities measured in three different pseudorapidity regions as well as the energy measured at beam rapidity (zero degree). The procedures to determine the centrality, quantified by the number of participants (N-part) or the number of nucleon-nucleon binary collisions (N-coll) are described. We show that, in contrast to Pb-Pb collisions, in p-Pb collisions large multiplicity fluctuations together with the small range of participants available generate a dynamical bias in centrality classes based on particle multiplicity. We propose to use the zero-degree energy, which we expect not to introduce a dynamical bias, as an alternative event-centrality estimator. Based on zero-degree energy-centrality classes, the N-part dependence of particle production is studied. Under the assumption that the multiplicity measured in the Pb-going rapidity region scales with the number of Pb participants, an approximate independence of the multiplicity per participating nucleon measured at mid-rapidity of the number of participating nucleons is observed. Furthermore, at high-pT the p-Pb spectra are found to be consistent with the pp spectra scaled by N-coll for all centrality classes. Our results represent valuable input for the study of the event-activity dependence of hard probes in p-Pb collisions and, hence, help to establish baselines for the interpretation of the Pb-Pb data.
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27.
  • Surendran, Praveen, et al. (författare)
  • Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
  • 2020
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 52:12, s. 1314-1332
  • Tidskriftsartikel (refereegranskat)abstract
    • Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5 x 10(-8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were similar to 8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.
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28.
  • Turcot, Valerie, et al. (författare)
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
  • 2018
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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29.
  • Marouli, Eirini, et al. (författare)
  • Rare and low-frequency coding variants alter human adult height
  • 2017
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
  • Tidskriftsartikel (refereegranskat)abstract
    • Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
  •  
30.
  • Palmese, A., et al. (författare)
  • Stellar mass as a galaxy cluster mass proxy : application to the Dark Energy Survey redMaPPer clusters
  • 2020
  • Ingår i: \mnras. - : Oxford University Press (OUP). ; 493:4, s. 4591-4606
  • Tidskriftsartikel (refereegranskat)abstract
    • We introduce a galaxy cluster mass observable, μ⋆, based on the stellar masses of cluster members, and we present results for the Dark Energy Survey (DES) Year 1 (Y1) observations. Stellar masses are computed using a Bayesian model averaging method, and are validated for DES data using simulations and COSMOS data. We show that μ⋆ works as a promising mass proxy by comparing our predictions to X-ray measurements. We measure the X-ray temperature–μ⋆ relation for a total of 129 clusters matched between the wide-field DES Y1 redMaPPer catalogue and Chandra and XMM archival observations, spanning the redshift range 0.1 < z < 0.7. For a scaling relation that is linear in logarithmic space, we find a slope of α = 0.488 ± 0.043 and a scatter in the X-ray temperature at fixed μ⋆ of σlnTX|μ⋆=0.266+0.019−0.020 for the joint sample. By using the halo mass scaling relations of the X-ray temperature from the Weighing the Giants program, we further derive the μ⋆-conditioned scatter in mass, finding σlnM|μ⋆=0.26+0.15−0.10⁠. These results are competitive with well-established cluster mass proxies used for cosmological analyses, showing that μ⋆ can be used as a reliable and physically motivated mass proxy to derive cosmological constraints.
  •  
31.
  • Surendran, Praveen, et al. (författare)
  • Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
  • 2016
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:10, s. 1151-1161
  • Tidskriftsartikel (refereegranskat)abstract
    • High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used -1/4155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.
  •  
32.
  • Feitosa, Mary F., et al. (författare)
  • Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
  • 2018
  • Ingår i: PLOS ONE. - : Public library science. - 1932-6203. ; 13:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for gene-alcohol consumption interaction for BP might identify additional BP loci and contribute to the understanding of alcohol-related BP regulation. We conducted a large two-stage investigation incorporating joint testing of main genetic effects and single nucleotide variant (SNV)-alcohol consumption interactions. In Stage 1, genome-wide discovery meta-analyses in approximate to 131 K individuals across several ancestry groups yielded 3,514 SNVs (245 loci) with suggestive evidence of association (P <1.0 x 10(-5)). In Stage 2, these SNVs were tested for independent external replication in individuals across multiple ancestries. We identified and replicated (at Bonferroni correction threshold) five novel BP loci (380 SNVs in 21 genes) and 49 previously reported BP loci (2,159 SNVs in 109 genes) in European ancestry, and in multi-ancestry meta-analyses (P < 5.0 x 10(-8)). For African ancestry samples, we detected 18 potentially novel BP loci (P< 5.0 x 10(-8)) in Stage 1 that warrant further replication. Additionally, correlated meta-analysis identified eight novel BP loci (11 genes). Several genes in these loci (e.g., PINX1, GATA4, BLK, FTO and GABBR2 have been previously reported to be associated with alcohol consumption. These findings provide insights into the role of alcohol consumption in the genetic architecture of hypertension.
  •  
33.
  • Flannick, Jason, et al. (författare)
  • Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
  • 2017
  • Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
  • Tidskriftsartikel (refereegranskat)abstract
    • To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
  •  
34.
  • Fuchsberger, Christian, et al. (författare)
  • The genetic architecture of type 2 diabetes
  • 2016
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
  • Tidskriftsartikel (refereegranskat)abstract
    • The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
  •  
35.
  • Grandis, S., et al. (författare)
  • Validation of selection function, sample contamination and mass calibration in galaxy cluster samples
  • 2020
  • Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 498:1, s. 771-798
  • Tidskriftsartikel (refereegranskat)abstract
    • We construct and validate the selection function of the MARD-Y3 galaxy cluster sample. This sample was selected through optical follow-up of the 2nd ROSAT faint source catalogue with Dark Energy Survey year 3 data. The selection function is modelled by combining an empirically constructed X-ray selection function with an incompleteness model for the optical follow-up. We validate the joint selection function by testing the consistency of the constraints on the X-ray flux–mass and richness–mass scaling relation parameters derived from different sources of mass information: (1) cross-calibration using South Pole Telescope Sunyaev-Zel'dovich (SPT-SZ) clusters, (2) calibration using number counts in X-ray, in optical and in both X-ray and optical while marginalizing over cosmological parameters, and (3) other published analyses. We find that the constraints on the scaling relation from the number counts and SPT-SZ cross-calibration agree, indicating that our modelling of the selection function is adequate. Furthermore, we apply a largely cosmology independent method to validate selection functions via the computation of the probability of finding each cluster in the SPT-SZ sample in the MARD-Y3 sample and vice versa. This test reveals no clear evidence for MARD-Y3 contamination, SPT-SZ incompleteness or outlier fraction. Finally, we discuss the prospects of the techniques presented here to limit systematic selection effects in future cluster cosmological studies.
  •  
36.
  • Weigelt, G., et al. (författare)
  • VLTI-MATISSE chromatic aperture-synthesis imaging of eta Carinae's stellar wind across the Br alpha line Periastron passage observations in February 2020
  • 2021
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 652
  • Tidskriftsartikel (refereegranskat)abstract
    • Context. Eta Carinae is a highly eccentric, massive binary system (semimajor axis similar to 15.5 au) with powerful stellar winds and a phase-dependent wind-wind collision (WWC) zone. The primary star, eta Car A, is a luminous blue variable (LBV); the secondary, eta Car B, is a Wolf-Rayet or O star with a faster but less dense wind. Aperture-synthesis imaging allows us to study the mass loss from the enigmatic LBV eta Car. Understanding LBVs is a crucial step toward improving our knowledge about massive stars and their evolution. Aims. Our aim is to study the intensity distribution and kinematics of eta Car's WWC zone. Methods. Using the VLTI-MATISSE mid-infrared interferometry instrument, we perform Br alpha imaging of eta Car's distorted wind. Results. We present the first VLTI-MATISSE aperture-synthesis images of eta Car A's stellar windin several spectral channels distributed across the Br alpha 4.052 mu m line (spectral resolving power R similar to 960). Our observations were performed close to periastron passage in February 2020 (orbital phase similar to 14.0022). The reconstructed iso-velocity images show the dependence of the primary stellar wind on wavelength or line-of-sight (LOS) velocity with a spatial resolution of 6 mas (similar to 14 au). The radius of the faintest outer wind regions is similar to 26 mas (similar to 60 au). At several negative LOS velocities, the primary stellar wind is less extended to the northwest than in other directions. This asymmetry is most likely caused by the WWC. Therefore, we see both the velocity field of the undisturbed primary wind and the WWC cavity. In continuum spectral channels, the primary star wind is more compact than in line channels. A fit of the observed continuum visibilities with the visibilities of a stellar wind CMFGEN model (CMFGEN is an atmosphere code developed to model the spectra of a variety of objects) provides a full width at half maximum fit diameter of the primary stellar wind of 2.84 +/- 0.06 mas (6.54 +/- 0.14 au). We comparethe derived intensity distributions with the CMFGEN stellar wind model and hydrodynamic WWC models.
  •  
37.
  • Sung, Yun Ju, et al. (författare)
  • A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure
  • 2019
  • Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 28:15, s. 2615-2633
  • Tidskriftsartikel (refereegranskat)abstract
    • Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene–smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene–smoking interaction analysis and 38 were newly identified (P < 5 × 10−8, false discovery rate < 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.
  •  
38.
  • Wessel, Jennifer, et al. (författare)
  • Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
  • 2015
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6
  • Tidskriftsartikel (refereegranskat)abstract
    • Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF = 1.4%) with lower FG (beta = -0.09 +/- 0.01 mmol l(-1), P = 3.4 x 10(-12)), T2D risk (OR[95% CI] = 0.86[0.76-0.96], P = 0.010), early insulin secretion (beta = -0.07 +/- 0.035 pmol(insulin) mmol(glucose)(-1), P = 0.048), but higher 2-h glucose (beta = 0.16 +/- 0.05 mmol l(-1), P = 4.3 x 10(-4)). We identify a gene-based association with FG at G6PC2 (p(SKAT) = 6.8 x 10(-6)) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF = 20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (beta = 0.02 +/- 0.004 mmol l(-1), P = 1.3 x 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility.
  •  
39.
  • de Vries, Paul S., et al. (författare)
  • Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions
  • 2019
  • Ingår i: American Journal of Epidemiology. - : Oxford University Press. - 0002-9262 .- 1476-6256. ; 188:6, s. 1033-1054
  • Tidskriftsartikel (refereegranskat)abstract
    • A person's lipid profile is influenced by genetic variants and alcohol consumption, but the contribution of interactions between these exposures has not been studied. We therefore incorporated gene-alcohol interactions into a multiancestry genome-wide association study of levels of high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. We included 45 studies in stage 1 (genome-wide discovery) and 66 studies in stage 2 (focused follow-up), for a total of 394,584 individuals from 5 ancestry groups. Analyses covered the period July 2014-November 2017. Genetic main effects and interaction effects were jointly assessed by means of a 2-degrees-of-freedom (df) test, and a 1-df test was used to assess the interaction effects alone. Variants at 495 loci were at least suggestively associated (P < 1 x 10(-6)) with lipid levels in stage 1 and were evaluated in stage 2, followed by combined analyses of stage 1 and stage 2. In the combined analysis of stages 1 and 2, a total of 147 independent loci were associated with lipid levels at P < 5 x 10(-8) using 2-df tests, of which 18 were novel. No genome-wide-significant associations were found testing the interaction effect alone. The novel loci included several genes (proprotein convertase subtilisin/kexin type 5 (PCSK5), vascular endothelial growth factor B (VEGFB), and apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1) complementation factor (A1CF)) that have a putative role in lipid metabolism on the basis of existing evidence from cellular and experimental models.
  •  
40.
  • Erzurumluoglu, A. Mesut, et al. (författare)
  • Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
  • 2020
  • Ingår i: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:10, s. 2392-2409
  • Tidskriftsartikel (refereegranskat)abstract
    • Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P < 5 × 10-8 in either analysis were taken forward for replication in up to 275,596 independent participants from UK Biobank. Lastly, a meta-analysis of the discovery and replication studies was performed. Sixteen SNVs were associated with at least one of the smoking behaviour traits (P < 5 × 10-8) in the discovery samples. Ten novel SNVs, including rs12616219 near TMEM182, were followed-up and five of them (rs462779 in REV3L, rs12780116 in CNNM2, rs1190736 in GPR101, rs11539157 in PJA1, and rs12616219 near TMEM182) replicated at a Bonferroni significance threshold (P < 4.5 × 10-3) with consistent direction of effect. A further 35 SNVs were associated with smoking behaviour traits in the discovery plus replication meta-analysis (up to 622,409 participants) including a rare SNV, rs150493199, in CCDC141 and two low-frequency SNVs in CEP350 and HDGFRP2. Functional follow-up implied that decreased expression of REV3L may lower the probability of smoking initiation. The novel loci will facilitate understanding the genetic aetiology of smoking behaviour and may lead to the identification of potential drug targets for smoking prevention and/or cessation.
  •  
41.
  • Heil, M., et al. (författare)
  • A new Time-of-flight detector for the R 3 B setup
  • 2022
  • Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-601X .- 1434-6001. ; 58:12
  • Tidskriftsartikel (refereegranskat)abstract
    • We present the design, prototype developments and test results of the new time-of-flight detector (ToFD) which is part of the R3B experimental setup at GSI and FAIR, Darmstadt, Germany. The ToFD detector is able to detect heavy-ion residues of all charges at relativistic energies with a relative energy precision σΔE/ ΔE of up to 1% and a time precision of up to 14 ps (sigma). Together with an elaborate particle-tracking system, the full identification of relativistic ions from hydrogen up to uranium in mass and nuclear charge is possible.
  •  
42.
  •  
43.
  • Scott, Robert A., et al. (författare)
  • A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease
  • 2016
  • Ingår i: Science Translational Medicine. - : American Association for the Advancement of Science (AAAS). - 1946-6234 .- 1946-6242. ; 8:341
  • Tidskriftsartikel (refereegranskat)abstract
    • Regulatory authorities have indicated that new drugs to treat type 2 diabetes (T2D) should not be associated with an unacceptable increase in cardiovascular risk. Human genetics may be able to guide development of antidiabetic therapies by predicting cardiovascular and other health endpoints. We therefore investigated the association of variants in six genes that encode drug targets for obesity or T2D with a range of metabolic traits in up to 11,806 individuals by targeted exome sequencing and follow-up in 39,979 individuals by targeted genotyping, with additional in silico follow-up in consortia. We used these data to first compare associations of variants in genes encoding drug targets with the effects of pharmacological manipulation of those targets in clinical trials. We then tested the association of those variants with disease outcomes, including coronary heart disease, to predict cardiovascular safety of these agents. A low-frequency missense variant (Ala316Thr; rs10305492) in the gene encoding glucagon-like peptide-1 receptor (GLP1R), the target of GLP1R agonists, was associated with lower fasting glucose and T2D risk, consistent with GLP1R agonist therapies. The minor allele was also associated with protection against heart disease, thus providing evidence that GLP1R agonists are not likely to be associated with an unacceptable increase in cardiovascular risk. Our results provide an encouraging signal that these agents may be associated with benefit, a question currently being addressed in randomized controlled trials. Genetic variants associated with metabolic traits and multiple disease outcomes can be used to validate therapeutic targets at an early stage in the drug development process.
  •  
44.
  • Zenteno, A., et al. (författare)
  • A joint SZ-X-ray-optical analysis of the dynamical state of 288 massive galaxy clusters
  • 2020
  • Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 495:1, s. 705-725
  • Tidskriftsartikel (refereegranskat)abstract
    • We use imaging from the first three years of the Dark Energy Survey to characterize the dynamical state of 288 galaxy clusters at 0.1 less than or similar to z less than or similar to 0.9 detected in the South Pole Telescope (SPT) Sunyaev-Zeldovich (SZ) effect survey (SPT-SZ). We examine spatial offsets between the position of the brightest cluster galaxy (BCG) and the centre of the gas distribution as traced by the SPT-SZ centroid and by the X-ray centroid/peak position from Chandra and XMM data. We show that the radial distribution of offsets provides no evidence that SPT SZ-selected cluster samples include a higher fraction of mergers than X-ray-selected cluster samples. We use the offsets to classify the dynamical state of the clusters, selecting the 43 most disturbed clusters, with half of those at z greater than or similar to 0.5, a region seldom explored previously. We find that Schechter function fits to the galaxy population in disturbed clusters and relaxed clusters differ at z > 0.55 but not at lower redshifts. Disturbed clusters at z > 0.55 have steeper faint-end slopes and brighter characteristic magnitudes. Within the same redshift range, we find that the BCGs in relaxed clusters tend to be brighter than the BCGs in disturbed samples, while in agreement in the lower redshift bin. Possible explanations includes a higher merger rate, and a more efficient dynamical friction at high redshift. The red-sequence population is less affected by the cluster dynamical state than the general galaxy population.
  •  
45.
  • Albrechtsen, A., et al. (författare)
  • Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
  • 2013
  • Ingår i: Diabetologia. - : Springer Science and Business Media LLC. - 0012-186X .- 1432-0428. ; 56:2, s. 298-310
  • Tidskriftsartikel (refereegranskat)abstract
    • Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) > 1% with common metabolic phenotypes. The study comprised three stages. We performed medium-depth (8x) whole exome sequencing in 1,000 cases with type 2 diabetes, BMI > 27.5 kg/m(2) and hypertension and in 1,000 controls (stage 1). We selected 16,192 polymorphisms nominally associated (p < 0.05) with case-control status, from four selected annotation categories or from loci reported to associate with metabolic traits. These variants were genotyped in 15,989 Danes to search for association with 12 metabolic phenotypes (stage 2). In stage 3, polymorphisms showing potential associations were genotyped in a further 63,896 Europeans. Exome sequencing identified 70,182 polymorphisms with MAF > 1%. In stage 2 we identified 51 potential associations with one or more of eight metabolic phenotypes covered by 45 unique polymorphisms. In meta-analyses of stage 2 and stage 3 results, we demonstrated robust associations for coding polymorphisms in CD300LG (fasting HDL-cholesterol: MAF 3.5%, p = 8.5 x 10(-14)), COBLL1 (type 2 diabetes: MAF 12.5%, OR 0.88, p = 1.2 x 10(-11)) and MACF1 (type 2 diabetes: MAF 23.4%, OR 1.10, p = 8.2 x 10(-10)). We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits.
  •  
46.
  • Gutierrez, C. P., et al. (författare)
  • DES16C3cje : A low-luminosity, long-lived supernova
  • 2020
  • Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 496:1, s. 95-110
  • Tidskriftsartikel (refereegranskat)abstract
    • We present DES16C3cje, a low-luminosity, long-lived type II supernova (SN II) at redshift 0.0618, detected by the Dark Energy Survey (DES). DES16C3cje is a unique SN. The spectra are characterized by extremely narrow photospheric lines corresponding to very low expansion velocities of less than or similar to 1500 km s(-1), and the light curve shows an initial peak that fades after 50 d before slowly rebrightening over a further 100 d to reach an absolute brightness of M-r similar to 15.5 mag. The decline rate of the late-time light curve is then slower than that expected from the powering by radioactive decay of Co-56, but is comparable to that expected from accretion power. Comparing the bolometric light curve with hydrodynamical models, we find that DES16C3cje can be explained by either (i) a low explosion energy (0.11 foe) and relatively large Ni-56 production of 0.075 M-circle dot from an similar to 15 M-circle dot red supergiant progenitor typical of other SNe II, or (ii) a relatively compact similar to 40 M-circle dot star, explosion energy of 1 foe, and 0.08 M-circle dot of Ni-56. Both scenarios require additional energy input to explain the late-time light curve, which is consistent with fallback accretion at a rate of similar to 0.5 x 10(-)(8) M-circle dot s(-1).
  •  
47.
  • Manning, Alisa, et al. (författare)
  • A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
  • 2017
  • Ingår i: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
  • Tidskriftsartikel (refereegranskat)abstract
    • To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
  •  
48.
  • Scott, Robert A., et al. (författare)
  • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
  • 2012
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:9, s. 991-1005
  • Tidskriftsartikel (refereegranskat)abstract
    • Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci influencing glycemic traits to 53, of which 33 also increase type 2 diabetes risk (q < 0.05). Loci influencing fasting insulin concentration showed association with lipid levels and fat distribution, suggesting impact on insulin resistance. Gene-based analyses identified further biologically plausible loci, suggesting that additional loci beyond those reaching genome-wide significance are likely to represent real associations. This conclusion is supported by an excess of directionally consistent and nominally significant signals between discovery and follow-up studies. Functional analysis of these newly discovered loci will further improve our understanding of glycemic control.
  •  
49.
  • Kilpelainen, TO, et al. (författare)
  • Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity
  • 2019
  • Ingår i: Nature communications. - London : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 376-
  • Tidskriftsartikel (refereegranskat)abstract
    • Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wide analyses of circulating HDL cholesterol, LDL cholesterol, and triglyceride levels in up to 120,979 individuals of European, African, Asian, Hispanic, and Brazilian ancestry, with follow-up of suggestive associations in an additional 131,012 individuals. We find four loci, in/near CLASP1, LHX1, SNTA1, and CNTNAP2, that are associated with circulating lipid levels through interaction with physical activity; higher levels of physical activity enhance the HDL cholesterol-increasing effects of the CLASP1, LHX1, and SNTA1 loci and attenuate the LDL cholesterol-increasing effect of the CNTNAP2 locus. The CLASP1, LHX1, and SNTA1 regions harbor genes linked to muscle function and lipid metabolism. Our results elucidate the role of physical activity interactions in the genetic contribution to blood lipid levels.
  •  
50.
  • Pham, M K, et al. (författare)
  • A certified reference material for radionuclides in the water sample from Irish Sea (IAEA-443)
  • 2011
  • Ingår i: JOURNAL OF RADIOANALYTICAL AND NUCLEAR CHEMISTRY. - : Springer Science Business Media. - 0236-5731 .- 1588-2780. ; 288:2, s. 603-611
  • Tidskriftsartikel (refereegranskat)abstract
    • A new certified reference material (CRM) for radionuclides in sea water from the Irish sea (IAEA-443) is described and the results of the certification process are presented. Ten radionuclides (H-3, K-40, Sr-90, Cs-137, U-234, U-235, U-238, Pu-238, Pu239+240 and Am-241) have been certified, and information values on massic activities with 95% confidence intervals are given for four radionuclides (Th-230, Th-232, Pu-239 and Pu-240). Results for less frequently reported radionuclides (Tc-99, Th-228, Np-237 and Pu-241) are also reported. The CRM can be used for quality assurance/quality control of the analysis of radionuclides in water samples, for the development and validation of analytical methods and for training purposes. The material is available in 5 L units from IAEA (http://nucleus.iaea.org/rpst/index.htm).
  •  
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