| 1. |
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| 2. |
- Aktas, A, et al.
(författare)
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A direct search for stable magnetic monopoles produced in positron-proton collisions at HERA
- 2005
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 41, s. 133-141
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Tidskriftsartikel (refereegranskat)abstract
- A direct search has been made for magnetic monopoles produced in e(+)p collisions at a centre of mass energy of 300 GeV at HERA. The beam pipe surrounding the interaction region in 1995-1997 was investigated using a SQUID magnetometer to look for stopped magnetic monopoles. During this time an integrated luminosity of 62 pb(-1) was delivered. No magnetic monopoles were observed and charge and mass dependent upper limits on the e(+)p production cross section are set.
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| 3. |
- Adloff, C, et al.
(författare)
-
Diffractive photoproduction of psi(2S) mesons at HERA
- 2002
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 541:3-4, s. 251-264
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Tidskriftsartikel (refereegranskat)abstract
- Results on diffractive photoproduction of psi(2S) mesons are presented using data collected between 1996 and 2000 with the H1 detector at the HERA ep collider. The data correspond to an integrated luminosity of 77 pb(-1). The energy dependence of the diffractive psi(2S) cross section is found to be similar to or possibly somewhat steeper than that for J/psi mesons. The dependences of the elastic and proton dissociative psi(2S) photoproduction cross sections on the squared momentum transfer t at the proton vertex are measured. The t-dependence of the elastic channel, parametrised as e(bt), yields b(el)(psi(2S)) = (4.31 +/- 0.57 +/- 0.46) GeV-2, compatible with that of the J/psi. For the proton dissociative channel the result b(pd)(psi(2S)) = (0.59 +/- 0.13 +/- 0.12) GeV-2 is 2.3 standard deviations smaller than that measured for the J/psi. With proper account of the individual wavefunctions theoretical predictions based on perturbative QCD are found to describe the measurements well. (C) 2002 Elsevier Science B.V. All rights reserved.
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| 4. |
- Adloff, C, et al.
(författare)
-
Inelastic leptoproduction of J/psi mesons at HERA
- 2002
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 41-53
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Tidskriftsartikel (refereegranskat)abstract
- The leptoproduction of J/psi mesons is studied in inelastic reactions for four momentorri transfers 2 < Q(2) < 100GeV(2). The data were taken with the H1 detector at the electron proton collider HERA and correspond to an integrated luminosity of 77 pb(-1). Single differential and double differential cross sections are measured with increased precision compared with previous analyses. New leading order calculations within the non-relativistic QCD factorisation approach including colour octet and colour singlet contributions are compared with the data and are found to give a reasonable description of most distributions. An exception is the shape of the distribution in the J/psi fractional energy. z, which deviates significantly from that of the data. Comparisons with photoproduction are made and the polarisation of the produced J/psi meson is analysed.
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| 5. |
- Adloff, C, et al.
(författare)
-
Inelastic photoproduction of J/psi mesons at HERA
- 2002
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 25-39
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Tidskriftsartikel (refereegranskat)abstract
- An analysis of inelastic photoproduction of J/psi mesons is presented using data collected at the ep collider HERA corresponding to an integrated luminosity of above 80 pb(-1), Differential and double I < P-t/psi(2) < differential cross sections are measured in a wide kinematic region: 60 < W-gammap < 260 GeV, 1 p(t,psi)(2) < 60 GeV2 and 0.05 < z < 0.9. where z is the fraction of the energy of the exchanged photon transferred to the J/psi meson in the rest frame of the target proton. Cross sections at z less than or similar to 0.3 are presented for the first time. Theoretical calculations within the Colour Singlet Model at NLO for direct photon processes are shown to give a good description of the data in the medium z region (0.3 < z < 0.9) up to the highest p(t,psi)(2) values. A calculation using a k(t) factorisation approach in LO in the Colour Singlet Model is also able to describe these data. The data in the full z range are also compared to LO calculations within a non-relativistic QCD framework including colour octet and colour singlet contributions for direct and resolved photons. It seems possible to reconcile data and theory with modest contributions from colour octet processes. The polarisation of the J/psi meson is measured as a function of z and p(t,psi) and is reasonably described by the theoretical predictions.
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| 6. |
- Adloff, C, et al.
(författare)
-
Measurement of dijet cross sections in photoproduction at HERA
- 2002
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 13-23
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Tidskriftsartikel (refereegranskat)abstract
- Dijet cross sections as functions of several jet observables are measured in photoproduction using the HI detector at HERA. The data sample comprises e(+)p data with an integrated luminosity of 319 pb(-1). Jets are selected using the inclusive k(perpendicular to) algorithm with a minimum transverse energy of 25 GeV for the leading jet. The phase space covers longitudinal proton momentum fraction x(p) and photon longitudinal momentum fraction x(gamma) in the ranges 0.05 < x(p) < 0.6 and 0.1 < x(gamma) < 1. The predict ions of next-to-leading order perturbative QCD, including recent photon and proton parton densities, are found to be compatible with the data in a wide kinematical range.
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| 7. |
- Adloff, C, et al.
(författare)
-
Measurement of inclusive jet cross-sections in deep-inelastic ep scattering at HERA
- 2002
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 542:3-4, s. 193-206
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Tidskriftsartikel (refereegranskat)abstract
- A measurement of inclusive jet cross-sections in deep-inelastic ep scattering at HERA is presented based on data with an integrated luminosity of 21.1 pb(-1). The measurement is performed for photon virtualities Q(2) between 5 and 100 GeV2, differentially in Q(2), in the jet transverse energy E-T, in E-T(2)/Q(2) and in the pseudorapidity eta(lab). With the renormalization scale mu(R) = E-T, perturbative QCD calculations in next-to-leading order (NLO) give a good description of the data in most of the phase space. Significant discrepancies are observed only for jets in the proton beam direction with ET below 20 GeV and Q2 below 20 GeV2. This corresponds to the region in which NLO corrections are largest and further improvement of the calculations is thus of particular interest.
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| 8. |
- Adloff, C, et al.
(författare)
-
Search for QCD instanton-induced processes in deep-inelastic scattering at HERA
- 2002
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:4, s. 495-509
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Tidskriftsartikel (refereegranskat)abstract
- Signals of QCD instanton-induced processes are searched for in deep-inelastic scattering (DIS) at the electron-proton collider HERA in a kinematic region defined by the Bjorken-scaling variables x > 10(-3), 0.1 < y < 0.6 and photon virtualities 10 less than or similar to Q(2) < 100 GeV2. Several observables characterising hadronic final state properties of QCD instanton-induced events are exploited to identify a potentially instanton-enriched domain. While an excess of events with instanton-like topology is observed it cannot be claimed significant given the uncertainty of the standard DIS background simulation. Upper limits on the cross-section for instanton-induced processes of between 60 pb and 1000 pb are set dependent on the kinematic domain considered. The data do not exclude the cross-section predicted by instanton perturbation theory for small instanton sizes. At large instanton sizes a naive extrapolation of instanton perturbation theory yields a cross-section in the range of sensitivity of this study. Such a cross-section is not observed, in agreement with non-perturbative lattice simulations of the QCD vacuum.
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| 9. |
- Justice, A. E., et al.
(författare)
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Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
- 2017
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.
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| 10. |
- Adloff, C, et al.
(författare)
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A measurement of the t dependence of the helicity structure of diffractive rho meson electroproduction at HERA
- 2002
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 539:1-2, s. 25-39
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Tidskriftsartikel (refereegranskat)abstract
- The helicity structure of the diffractive electroproduction of rho mesons, e + p --> e + rho + Y, is studied in a previously unexplored region of large four-momentum transfer squared at the proton vertex, t: 0 < t' < 3 GeV2, where t' = - min. The data used are collected with the HI detector at HERA in the kinematic domain 2.5 < Q(2) < 60 GeV2, 40 < W < 120 GeV No t dependence of the r(00)(04) spin density matrix element is found. A significant t dependent helicity non-conservation from the virtual photon to the rho meson is observed for the spin density matrix element combinations r(00)(5) + 2r(11)(5) and r(00)(1) + 2r(11)(1). These t dependences are consistently described by a perturbative QCD model based on the exchange of two gluons.
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| 11. |
- Adloff, C, et al.
(författare)
-
Energy flow and rapidity gaps between jets in photoproduction at HERA
- 2002
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 24:4, s. 517-527
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Tidskriftsartikel (refereegranskat)abstract
- Dijet events in photon-proton collisions in which there is a large pseudorapidity separation, Deltaeta > 2.5 between the two highest E-T jets are studied with the H1 detector at HERA. The inclusive dijet cross sections are measured as functions of the longitudinal momentum fractions of the proton and photon which participate in the production of the jets, x(p)(jets) and x(gamma)(jets) respectively, Deltaeta, the pseudorapidity P separation between the two highest E-T jets, and E-T(gap), the total summed transverse energy between the jets. Rapidity gap events are defined as events in which E-T(gap) is less than E-T(cut), for E-T(cut) varied between jets 0.5 and 2.0 GeV. The fraction of dijet events with a rapidity gap is measured differentially in Deltaeta, x(p)(jets) and x(gamma)(jets). An excess of events with rapidity gaps at low values of E-T(cut) is observed above the expectation from standard photoproduction processes. This excess can be explained by the exchange of a strongly interacting colour singlet object between the jets.
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| 12. |
- Adloff, C, et al.
(författare)
-
Measurement of D*(+/-) meson production and F-2(c) in deep-inelastic scattering at HERA
- 2002
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 528:3-4, s. 199-214
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Tidskriftsartikel (refereegranskat)abstract
- The inclusive production of D*+/-(2010) mesons in deep-inelastic scattering is studied with the HI detector at HERA. In the kinematic region 1 < Q(2) < 100 GeV2 and 0.05 < y < 0.7 an e(+) p cross section for inclusive D*+/- meson production of 8.50 +/- 0.42(stat.)(-100)(+1.21)(syst.) nb is measured in the visible range p(tD*) > 1.5 GeV and eta(D*) < 1.5. Single and double differential inclusive D*+/- meson cross sections are compared to perturbative QCD calculations in two different evolution schemes, The charm contribution to the proton structure, F-c(2)(x, Q(2)), is determined by extrapolating the visible charm cross section to the full phase space. This contribution is found to rise from about 10% at Q(2) = 1.5 GeV2 to more than 25% at Q(2) = 60 GeV2 corresponding to x values ranging from 5 x 10(-5) to 3 x 10(-3). (C) 2002 Elsevier Science B.V. All rights reserved.
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| 13. |
- Adloff, C, et al.
(författare)
-
Measurement of dijet electroproduction at small jet separation
- 2002
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 24:1, s. 33-41
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Tidskriftsartikel (refereegranskat)abstract
- Deep-inelastic scattering data in the range 150 < Q(2) < 35000 GeV2 are used to investigate the minimum jet separation necessary to allow accurate description of the rate of dijet production using next-to-leading order perturbative QCD calculations. The required jet separation is found to be small, allowing about 1/3 of DIS data to be classified as dijet, as opposed to approximately 1/10 with more typical jet analyses. A number of precision measurements made using this dijet sample are well described by the calculations. The data are also described by the combination of leading order matrix elements and parton showers, as implemented in the QCD based Monte Carlo model RAPGAP.
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| 14. |
- Adloff, C, et al.
(författare)
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Search for excited neutrinos at HERA
- 2002
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 525:1-2, s. 9-16
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Tidskriftsartikel (refereegranskat)abstract
- We present a search for excited neutrinos using e(-) p data taken by the H1 experiment at HERA at a center-of-mass energy of 318 GeV with an integrated luminosity of 15 pb(-1). No evidence for excited neutrino production is found. Mass dependent exclusion limits are determined for the ratio of the coupling to the compositeness scale, f/Lambda, independently of the relative couplings to the SU(2) and U(1) gauge bosons. These limits extend the excluded region to higher masses than has been possible in previous searches at other colliders.
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| 15. |
- Adloff, C, et al.
(författare)
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Search for odderon-induced contributions to exclusive pi(0) photoproduction at HERA
- 2002
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 544:1-2, s. 35-43
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Tidskriftsartikel (refereegranskat)abstract
- A search for contributions to the reaction ep --> epi(0)N* from photon-odderon fusion in the photoproduction regime at HERA is reported, at an average photon-proton centre-of-mass energy = 215 GeV. The measurement proceeds via detection of the pi(0) decay photons, a leading neutron from the N* decay, and the scattered electron. No pi(0) signal is observed and an upper limit on the cross section for the photon-odderon fusion process of sigma(gammap --> pi(0)N*) < 49 nb at the 95% confidence level is derived, integrated over the experimentally accessible range of the squared four-momentum transfer at the nucleon vertex 0.02 < < 0.3 GeV2. This excludes a recent prediction from a calculation based on a non-perturbative QCD model of a photon-odderon fusion cross section above 200 nb. (C) 2002 Elsevier Science B.V. All rights reserved.
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| 16. |
- Aktas, A, et al.
(författare)
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A general search for new phenomena in ep scattering at HERA
- 2004
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 602:1-2, s. 14-30
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Tidskriftsartikel (refereegranskat)abstract
- A model-independent search for deviations from the Standard Model prediction is performed in e(+) p and e(-) p collisions at HERA using H1 data corresponding to an integrated luminosity of 117 pb(-1). For the first time all event topologies involving isolated electrons, photons, muons, neutrinos and jets with high transverse momenta are investigated in a single analysis. Events are assigned to exclusive classes according to their final state. A statistical algorithm is developed to search for deviations from the Standard Model in the distributions of the scalar sum of transverse momenta or invariant mass of final state particles and to quantify their significance. A good agreement with the Standard Model prediction is observed in most of the event classes. The most significant deviation is found for a topology containing an isolated muon, missing transverse momentum and a jet, consistent with a previously reported observation.
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| 17. |
- Aktas, A, et al.
(författare)
-
Inclusive production of D+, D-0, D-s(+) and D*(+) mesons in deep inelastic scattering at HERA
- 2005
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 38:4, s. 447-459
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Tidskriftsartikel (refereegranskat)abstract
- Inclusive production cross sections are measured in deep inelastic scattering at HERA for meson states composed of a charm quark and a light antiquark or the charge conjugate. The measurements cover the kinematic region of photon virtuality 2 < Q(2) < 100 GeV2, inelasticity 0.05 < y < 0.7, D meson transverse momenta p(t)( D) greater than or equal to 2.5 GeV and pseudorapidity |eta( D)| less than or equal to 1.5. The identification of the D-meson decays and the reduction of the combinatorial background profit from the reconstruction of displaced secondary vertices by means of the H1 silicon vertex detector. The production of charmed mesons containing the light quarks u, d and s is found to be compatible with a description in which the hard scattering is followed by a factorisable and universal hadronisation process.
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| 18. |
- Aktas, A, et al.
(författare)
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Measurement of anti-deuteron photoproduction and a search for heavy stable charged particles at HERA
- 2004
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 36:4, s. 413-423
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Tidskriftsartikel (refereegranskat)abstract
- The cross section for anti-deuteron photoproduction is measured at HERA at a mean centre-of-mass energy of W-gammap=200 GeV in the range 0.2 < p(T)/M < 0.7 and y < 0.4, where M, p(T) and y are the mass, transverse momentum and rapidity of the anti-deuteron in the HERA laboratory frame, respectively. The numbers of anti-deuterons per event are found to be similar in photoproduction to those in central proton-proton collisions at the CERN ISR but much lower than those in central Au-Au collisions at RHIC. The coalescence parameter B-2, which characterizes the likelihood of anti-deuteron production, is measured in photoproduction to be 0.010+/-0.002+/-0.001, which is much higher than in Au-Au collisions at a similar nucleon-nucleon centre-of-mass energy. No significant production of particles heavier than deuterons is observed and upper limits are set on the photoproduction cross sections for such particles.
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| 19. |
- Aktas, A, et al.
(författare)
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Measurement of F-2(c(c)over-bar) and F-2(b(b)over-bar) at high Q(2) using the H1 vertex detector at HERA
- 2005
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 40:3, s. 349-359
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Tidskriftsartikel (refereegranskat)abstract
- Measurements are presented of inclusive charm and beauty cross sections in e(+)p collisions at HERA for values of photon virtuality Q(2) > 150 GeV2 and of inelasticity 0.1 < y < 0.7. The charm and beauty fractions are determined using a method based on the impact parameter, in the transverse plane, of tracks to the primary vertex, as measured by the H1 vertex detector. The data are divided into four regions in Q(2) and Bjorken x, and values for the structure functions F-2(c (c) over bar) and F-2(b (b) over bar) are obtained. The results are found to be compatible with the predictions of perturbative quantum chromodynamics.
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| 20. |
- Aktas, A, et al.
(författare)
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Measurement of prompt photon cross sections in photoproduction at HERA
- 2005
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 38:4, s. 437-445
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Tidskriftsartikel (refereegranskat)abstract
- Results are presented on the photoproduction of isolated prompt photons, inclusively and associated with jets, in the gammap center of mass energy range 142 < W < 266 GeV. The cross sections are measured for the transverse momentum range of the photons 5 < E. T < 10 GeV and for associated jets with E-T(jet) > 4.5 GeV. They are measured differentially as a function of E-T(gamma), E-T(jet), the pseudorapidities eta(gamma) and eta(jet) and estimators of the momentum fractions x(gamma) and x(p) of the incident photon and proton carried by the constituents participating in the hard process. In order to further investigate the underlying dynamics, the angular correlation between the prompt photon and the jet in the transverse plane is studied. Predictions by perturbative QCD calculations in next to leading order are about 30% below the inclusive prompt photon data after corrections for hadronisation and multiple interactions, but are in reasonable agreement with the results for prompt photons associated with jets. Comparisons with the predictions of the event generators PYTHIA and HERWIG are also presented.
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| 21. |
- Aktas, A, et al.
(författare)
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Measurement of the proton structure function F-2 at low Q(2) in QED Compton scattering at HERA
- 2004
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 598:3-4, s. 159-171
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Tidskriftsartikel (refereegranskat)abstract
- The proton structure function F-2(x, Q(2)) is measured in inelastic QED Compton scattering using data collected with the H1 detector at HERA. QED Compton events are used to access the kinematic range of very low virtualities of the exchanged photon, Q(2), down to 0.5 GeV2, and Bjorken x up to similar to 0.06, a region which has not been covered previously by inclusive measurements at HERA. The results are in agreement with the measurements from fixed target lepton-nucleon scattering experiments. (C) 2004 Published by Elsevier B.V.
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| 22. |
- Aktas, A, et al.
(författare)
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Search for bosonic stop decays in R-parity violating supersymmetry in e(+)p collisions at HERA
- 2004
-
Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 599:3-4, s. 159-172
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Tidskriftsartikel (refereegranskat)abstract
- A search for scalar top quarks in R-parity violating supersymmetry is performed in e(+)p collisions at HERA using the H1 detector. The data, taken at roots = 319 GeV and 301 GeV, correspond to an integrated luminosity of 106 pb(-1). The resonant production of scalar top quarks t in positron quark fusion via an R-parity violating Yukawa coupling lambda' is considered with the subsequent bosonic stop decay t --> BW. The R-parity violating decay of the sbottom quark b --> dv(e) and leptonic and hadronic W decays are considered. No evidence for stop production is found in the search for bosonic stop decays nor in a search for the direct R-parity violating decay t --> eq. Mass dependent limits on lambda' are obtained in the framework of the minimal supersymmetric Standard Model. Stop quarks with masses up to 275 GeV can be excluded at the 95% confidence level for a Yukawa coupling of electromagnetic strength. (C) 2004 Elsevier B.V. All rights reserved.
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| 23. |
- Aktas, A, et al.
(författare)
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Search for squark production in R-parity violating supersymmetry at HERA
- 2004
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 36:4, s. 425-440
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Tidskriftsartikel (refereegranskat)abstract
- A search for squarks in R-parity violating supersymmetry is performed in e(+/-)p collisions at HERA using the H1 detector. The data were taken at a centre-of-mass energy of 319 GeV and correspond to an integrated luminosity of 64.3 pb(-1) for e (+) p collisions and 13.5 pb(-1) for e(-)p collisions. The resonant production of squarks via a Yukawa coupling lambda' is considered, taking into account direct and indirect R-parity violating decay modes. No evidence for squark production is found in the multi-lepton and multi-jet final state topologies investigated. Mass dependent limits on lambda' are obtained in the framework of the Minimal Supersymmetric Standard Model. In addition, the results are interpreted in terms of constraints on the parameters of the minimal Supergravity model. At the 95% confidence level squarks of all flavours with masses up to 275 GeV are excluded in a large part of the parameter space for a Yukawa coupling of electromagnetic strength. For a coupling strength 100 times smaller, masses up to 220 GeV can be ruled out.
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| 24. |
- Aktas, A, et al.
(författare)
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Evidence for a narrow anti-charmed baryon state
- 2004
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 588:1-2, s. 17-28
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Tidskriftsartikel (refereegranskat)abstract
- A narrow resonance in D*(-)p and D*(+)(p) over bar invariant mass combinations is observed in inelastic electron-proton collisions at centre-of-mass energies of 300 GeV and 320 GeV at HERA. The resonance has a mass of 3099 +/- 3(stat.) +/- 5(syst.) MeV and a measured Gaussian width of 12 +/- 3(stat.) MeV, compatible with the experimental resolution. The resonance is interpreted as an anti-charmed baryon with a minimal constituent quark composition of uudd (c) over bar, together with the charge conjugate. (C) 2004 Elsevier B.V. All rights reserved.
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| 25. |
- Aktas, A, et al.
(författare)
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Measurement of charm and beauty photoproduction at HERA using D*mu correlations
- 2005
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 621:1-2, s. 56-71
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Tidskriftsartikel (refereegranskat)abstract
- A measurement of charm and beauty photoproduction at the electron proton collider HERA is presented based on the simultaneous detection of a D*(+/-) meson and a muon. The correlation between the D* meson and the muon serves to separate the charm and beauty contributions and the analysis provides comparable sensitivity to both. The total and differential experimental cross sections are compared to LO and NLO QCD calculations. The measured charm cross section is in good agreement with QCD predictions including higher order effects while the beauty cross section is higher.
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| 26. |
- Aktas, A, et al.
(författare)
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Measurement of dijet cross sections in ep interactions with a leading neutron at HERA
- 2005
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 41:3, s. 273-286
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Tidskriftsartikel (refereegranskat)abstract
- Measurements are reported of the production of dijet events with a leading neutron in ep interactions at HERA. Differential cross sections for photoproduction and deep inelastic scattering are presented as a function of several kinematic variables. Leading order QCD simulation programs are compared with the measurements. Models in which the real or virtual photon interacts with a parton of an exchanged pion are able to describe the data. Next-to-leading order perturbative QCD calculations based on pion exchange are found to be in good agreement with the measured cross sections. The fraction of leading neutron dijet events with respect to all dijet events is also determined. The dijet events with a leading neutron have a lower fraction of resolved photon processes than do the inclusive dijet data.
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| 27. |
- Aktas, A, et al.
(författare)
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Search for light gravitinos in events with photons and missing transverse momentum at HERA
- 2005
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 616:1-2, s. 31-42
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Tidskriftsartikel (refereegranskat)abstract
- A search for gravitinos produced in e(+/-)p collisions is performed using the H1 detector at HERA. The data were taken at a centre-of-mass energy of 319 GeV and correspond to an integrated luminosity of 64.3 pb(-1) for e(+)p collisions and 13.5 pb(-1) for e(-)p collisions. If R-parity is not conserved, the t-channel exchange of a selectron can produce a neutralino, which, in models where the gravitino is the lightest supersymmetric particle, subsequently decays into a photon and a light gravitino. The resulting event signature, which involves an isolated photon, a jet and missing transverse energy, is analysed for the first time at HERA. No deviation from the Standard Model is found. Exclusion limits on the cross section and on R-parity-violating Yukawa couplings are derived in a Gauge Mediated Supersymmetry Breaking scenario. The results are independent of the squark sector. Neutralinos and supersymmetric partners of the left-handed electron with masses up to 112 GeV and 164 GeV, respectively, can be ruled out at the 95% confidence level for R-parity-violating couplings lambda' equal to 1, in some parts of the parameter space of the considered model.
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| 28. |
- Aktas, A, et al.
(författare)
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Measurement of beauty production at HERA using events with muons and jets
- 2005
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 41:4, s. 453-467
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Tidskriftsartikel (refereegranskat)abstract
- A measurement of the beauty production cross section in ep collisions at a centre-of-mass energy of 319 GeV is presented. The data were collected with the H1 detector at the HERA collider in the years 1999-2000. Events are selected by requiring the presence of jets and muons in the final state. Both the long lifetime and the large mass of b-flavoured hadrons are exploited to identify events containing beauty quarks. Differential cross sections are measured in photoproduction, with photon virtualities Q(2) < 1 GeV2, and in deep inelastic scattering, where 2 < Q(2) < 100 GeV2. The results are compared with perturbative QCD calculations to leading and next-to-leading order. The predictions are found to be somewhat lower than the data.
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| 29. |
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| 30. |
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| 31. |
- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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| 32. |
- Zillikens, M. C., et al.
(författare)
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Large meta-analysis of genome-wide association studies identifies five loci for lean body mass
- 2017
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p < 5 x 10(-8)) or suggestively genome wide (p < 2.3 x 10(-6)). Replication in 63,475 (47,227 of European ancestry) individuals from 33 cohorts for whole body lean body mass and in 45,090 (42,360 of European ancestry) subjects from 25 cohorts for appendicular lean body mass was successful for five single-nucleotide polymorphisms in/ near HSD17B11, VCAN, ADAMTSL3, IRS1, and FTO for total lean body mass and for three single-nucleotide polymorphisms in/ near VCAN, ADAMTSL3, and IRS1 for appendicular lean body mass. Our findings provide new insight into the genetics of lean body mass.
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| 33. |
- Frazier-Wood, Alexis C., et al.
(författare)
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Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses
- 2016
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Ingår i: Nature Genetics. - : Nature Research (part of Springer Nature). - 1061-4036 .- 1546-1718. ; 48, s. 624-
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Tidskriftsartikel (refereegranskat)abstract
- Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associated with subjective well-being, 2 variants associated with depressive symptoms, and 11 variants associated with neuroticism, including 2 inversion polymorphisms. The two loci associated with depressive symptoms replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (vertical bar(p) over cap vertical bar approximate to 0.8) strengthen the overall credibility of the findings and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association.
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| 34. |
- Karasik, D., et al.
(författare)
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Disentangling the genetics of lean mass
- 2019
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Ingår i: American Journal of Clinical Nutrition. - : Elsevier BV. - 0002-9165 .- 1938-3207. ; 109:2, s. 276-287
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Tidskriftsartikel (refereegranskat)abstract
- Background: Lean body mass (LM) plays an important role in mobility and metabolic function. We previously identified five loci associated with LM adjusted for fat mass in kilograms. Such an adjustment may reduce the power to identify genetic signals having an association with both lean mass and fat mass. Objectives: To determine the impact of different fat mass adjustments on genetic architecture of LM and identify additional LM loci. Methods: We performed genome-wide association analyses for whole-body LM (20 cohorts of European ancestry with n = 38,292) measured using dual-energy X-ray absorptiometry) or bioelectrical impedance analysis, adjusted for sex, age, age(2), and height with or without fat mass adjustments (Model 1 no fat adjustment; Model 2 adjustment for fat mass as a percentage of body mass; Model 3 adjustment for fat mass in kilograms). Results: Seven single-nucleotide polymorphisms (SNPs) in separate loci, including one novel LM locus (TNRC6B), were successfully replicated in an additional 47,227 individuals from 29 cohorts. Based on the strengths of the associations in Model 1 vs Model 3, we divided the LM loci into those with an effect on both lean mass and fat mass in the same direction and refer to those as "sumo wrestler" loci (FTO and MC4R). In contrast, loci with an impact specifically on LMwere termed "body builder" loci (VCAN and ADAMTSL3). Using existing available genome-wide association study databases, LM increasing alleles of SNPs in sumo wrestler loci were associated with an adverse metabolic profile, whereas LM increasing alleles of SNPs in "body builder" loci were associated with metabolic protection. Conclusions: In conclusion, we identified one novel LM locus (TNRC6B). Our results suggest that a genetically determined increase in lean mass might exert either harmful or protective effects on metabolic traits, depending on its relation to fat mass.
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| 35. |
- Jones, G., et al.
(författare)
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Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22 cohorts we identify 15 loci associated with muscle weakness (European Working Group on Sarcopenia in Older People definition: n=48,596 cases, 18.9% of total), including 12 loci not implicated in previous analyses of continuous measures of grip strength. Loci include genes reportedly involved in autoimmune disease (HLA-DQA1p=4x10(-17)), arthritis (GDF5p=4x10(-13)), cell cycle control and cancer protection, regulation of transcription, and others involved in the development and maintenance of the musculoskeletal system. Using Mendelian randomization we report possible overlapping causal pathways, including diabetes susceptibility, haematological parameters, and the immune system. We conclude that muscle weakness in older adults has distinct mechanisms from continuous strength, including several pathways considered to be hallmarks of ageing. Muscle weakness has been associated with morbidity and mortality in older people. Here, the authors have investigated this trait further by performing a genome-wide meta-analysis of grip strength and Mendelian randomization to discover causal relationships between muscle weakness and other diseases.
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| 36. |
- Smith, Jennifer A, et al.
(författare)
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Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
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Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
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Tidskriftsartikel (refereegranskat)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
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| 37. |
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| 38. |
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| 39. |
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| 40. |
- Moayyeri, Alireza, et al.
(författare)
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Genetic determinants of heel bone properties : genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:11, s. 3054-3068
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Tidskriftsartikel (refereegranskat)abstract
- Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA; n = 14 260), velocity of sound (VOS; n = 15 514) and BMD (n = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data (in silico n = 11 452) and new genotyping in 15 cohorts (de novo n = 24 902). In combined random effects, meta-analysis of the discovery and replication cohorts, nine single nucleotide polymorphisms (SNPs) had genome-wide significant (P < 5 x 10(-8)) associations with heel bone properties. Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 x 10(-14)). In meta-analyses involving 25 cohorts with up to 14 985 fracture cases, six of 10 SNPs associated with heel bone properties at P < 5 x 10(-6) also had the expected direction of association with any fracture (P < 0.05), including three SNPs with P < 0.005: 6q22.33 (rs7741021), 7q31.31 (rs2908007) and 10q21.1 (rs7902708). In conclusion, this GWA study reveals the effect of several genes common to central DXA-derived BMD and heel ultrasound/DXA measures and points to a new genetic locus with potential implications for better understanding of osteoporosis pathophysiology.
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| 41. |
- Sarwar, Nadeem, et al.
(författare)
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Interleukin-6 receptor pathways in coronary heart disease : a collaborative meta-analysis of 82 studies
- 2012
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Ingår i: The Lancet. - New York, NY, USA : Elsevier. - 0140-6736 .- 1474-547X. ; 379:9822, s. 1205-1213
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Tidskriftsartikel (refereegranskat)abstract
- Background: Persistent inflammation has been proposed to contribute to various stages in the pathogenesis of cardiovascular disease. Interleukin-6 receptor (IL6R) signalling propagates downstream inflammation cascades. To assess whether this pathway is causally relevant to coronary heart disease, we studied a functional genetic variant known to affect IL6R signalling. Methods: In a collaborative meta-analysis, we studied Asp358Ala (rs2228145) in IL6R in relation to a panel of conventional risk factors and inflammation biomarkers in 125 222 participants. We also compared the frequency of Asp358Ala in 51 441 patients with coronary heart disease and in 136 226 controls. To gain insight into possible mechanisms, we assessed Asp358Ala in relation to localised gene expression and to postlipopolysaccharide stimulation of interleukin 6. Findings: The minor allele frequency of Asp358Ala was 39%. Asp358Ala was not associated with lipid concentrations, blood pressure, adiposity, dysglycaemia, or smoking (p value for association per minor allele >= 0.04 for each). By contrast, for every copy of 358Ala inherited, mean concentration of IL6R increased by 34.3% (95% CI 30.4-38.2) and of interleukin 6 by 14.6% (10.7-18.4), and mean concentration of C-reactive protein was reduced by 7.5% (5.9-9.1) and of fibrinogen by 1.0% (0.7-1.3). For every copy of 358Ala inherited, risk of coronary heart disease was reduced by 3.4% (1.8-5.0). Asp358Ala was not related to IL6R mRNA levels or interleukin-6 production in monocytes. Interpretation: Large-scale human genetic and biomarker data are consistent with a causal association between IL6R-related pathways and coronary heart disease.
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| 42. |
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| 43. |
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| 44. |
- Karlsson, Martin, et al.
(författare)
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Measurement of the differential cross section for the two-body photodisintegration of He-3 at theta(LAB)=90 degrees using tagged photons in the energy range 14-31 MeV
- 2009
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 80:4
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Tidskriftsartikel (refereegranskat)abstract
- The two-body photodisintegration of He-3 has been investigated using tagged photons with energies from 14-31 MeV at MAX-lab in Lund, Sweden. The two-body breakup channel was unambiguously identified by the (nonsimultaneous) detection of both protons and deuterons. This approach was made feasible by the overdetermined kinematic situation afforded by the tagged-photon technique. Proton-and deuteron-energy spectra were measured using four silicon surface-barrier detector telescopes located at a laboratory angle of 90 degrees with respect to the incident photon-beam direction. Average statistical and systematic uncertainties of 5.7% and 6.6% in the differential cross section were obtained for 11 photon-energy bins with an average width of 1.2 MeV. The results are compared to previous experimental data measured at comparable photon energies as well as to the results of two recent Faddeev calculations which employ realistic potential models and take into account three-nucleon forces and final-state interactions. Both the accuracy and precision of the present data are improved over those obtained in the previous measurements. The data are in good agreement with most of the previous results, and favor the inclusion of three-nucleon forces in the calculations.
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| 45. |
- Oei, L., et al.
(författare)
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Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus
- 2014
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Ingår i: Bone. - : Elsevier BV. - 8756-3282 .- 1873-2763. ; 59, s. 20-27
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Tidskriftsartikel (refereegranskat)abstract
- Vertebral fracture risk is a heritable complex trait. The aim of this study was to identify genetic susceptibility factors for osteoporotic vertebral fracture applying a genome-wide association study (GWAS) approach. The GWAS discovery was based on the Rotterdam Study, a population-based study of elderly Dutch individuals aged >55 years; and comprising 329 cases and 2666 controls with radiographic scoring (McCloskey-Kanis) and genetic data. Replication of one top-associated SNP was pursued by de-novo genotyping of 15 independent studies across Europe, the United States, and Australia and one Asian study. Radiographic vertebral fracture assessment was performed using McCloskey-Kanis or Genant semi-quantitative definitions. SNPs were analyzed in relation to vertebral fracture using logistic regression models corrected for age and sex. Fixed effects inverse variance and Han-Eskin alternative random effects meta-analyses were applied. Genome-wide significance was set at p<5 x 10(-8). In the discovery, a SNP (rs11645938) on chromosome 16q24 was associated with the risk for vertebral fractures at p = 4.6 x 10(-8). However, the association was not significant across 5720 cases and 21,791 controls from 14 studies. Fixed-effects meta-analysis summary estimate was 1.06 (95% Cl: 0.98-1.14; p = 0.17), displaying high degree of heterogeneity (I-2= 57%; Q(het)p = 0.0006). Under Han-Eskin alternative random effects model the summary effect was significant (p = 0.0005). The SNP maps to a region previously found associated with lumbar spine bone mineral density (LS-BMD) in two large meta-analyses from the GEFOS consortium. A false positive association in the GWAS discovery cannot be excluded, yet, the low-powered setting of the discovery and replication settings (appropriate to identify risk effect size >1.25) may still be consistent with an effect size <1.10, more of the type expected in complex traits. Larger effort in studies with standardized phenotype definitions is needed to confirm or reject the involvement of this locus on the risk for vertebral fractures. (C) 2013 Elsevier Inc. All rights reserved.
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| 46. |
- Suri, P., et al.
(författare)
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Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain
- 2018
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Ingår i: PLoS Genet. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 14:9
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Tidskriftsartikel (refereegranskat)abstract
- Back pain is the #1 cause of years lived with disability worldwide, yet surprisingly little is known regarding the biology underlying this symptom. We conducted a genome-wide association study (GWAS) meta-analysis of chronic back pain (CBP). Adults of European ancestry were included from 15 cohorts in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and from the UK Biobank interim data release. CBP cases were defined as those reporting back pain present for >= 3-6 months; non-cases were included as comparisons ("controls"). Each cohort conducted genotyping using commercially available arrays followed by imputation. GWAS used logistic regression models with additive genetic effects, adjusting for age, sex, study-specific covariates, and population substructure. The threshold for genome-wide significance in the fixed-effect inverse-variance weighted meta-analysis was p<5x10(-8). Suggestive (p<5x10(-7)) and genome-wide significant (p<5x10(-8)) variants were carried forward for replication or further investigation in the remaining UK Biobank participants not included in the discovery sample. The discovery sample comprised 158,025 individuals, including 29,531 CBP cases. A genome-wide significant association was found for the intronic variant rs12310519 in SOX5 (OR 1.08, p = 7.2x10(-10)). This was subsequently replicated in 283,752 UK Biobank participants not included in the discovery sample, including 50,915 cases (OR 1.06, p= 5.3x10(-11)), and exceeded genome-wide significance in joint meta-analysis (OR 1.07, p= 4.5x10(-19)). We found suggestive associations at three other loci in the discovery sample, two of which exceeded genome-wide significance in joint meta-analysis: an intergenic variant, rs7833174, located between CCDC26 and GSDMC (OR 1.05, p = 4.4x10(-13)), and an intronic variant, rs4384683, in DCC (OR 0.97, p = 2.4x10(-19)). In this first reported meta-analysis of GWAS for CBP, we identified and replicated a genetic locus associated with CBP (SOX5). We also identified 2 other loci that reached genome-wide significance in a 2-stage joint meta-analysis (CCDC26/GSDMC and DCC).
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| 47. |
- Becker, Joel, et al.
(författare)
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Resource profile and user guide of the Polygenic Index Repository
- 2021
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Ingår i: Nature Human Behaviour. - : Nature Research (part of Springer Nature). - 2397-3374. ; 51:6, s. 694-695
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Tidskriftsartikel (refereegranskat)abstract
- Polygenic indexes (PGIs) are DNA-based predictors. Their value for research in many scientific disciplines is growing rapidly. As a resource for researchers, we used a consistent methodology to construct PGIs for 47 phenotypes in 11 datasets. To maximize the PGIs’ prediction accuracies, we constructed them using genome-wide association studies—some not previously published—from multiple data sources, including 23andMe and UK Biobank. We present a theoretical framework to help interpret analyses involving PGIs. A key insight is that a PGI can be understood as an unbiased but noisy measure of a latent variable we call the ‘additive SNP factor’. Regressions in which the true regressor is this factor but the PGI is used as its proxy therefore suffer from errors-in-variables bias. We derive an estimator that corrects for the bias, illustrate the correction, and make a Python tool for implementing it publicly available. © 2021, The Author(s), under exclusive licence to Springer Nature Limited.
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| 48. |
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| 49. |
- Ben-Avraham, Dan, et al.
(författare)
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The complex genetics of gait speed : Genome-wide meta-analysis approach
- 2017
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Ingår i: Aging. - : Impact Journals, LLC. - 1945-4589. ; 9:1, s. 209-246
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Tidskriftsartikel (refereegranskat)abstract
- Emerging evidence suggests that the basis for variation in late-life mobility is attributable, in part, to genetic factors, which may become increasingly important with age. Our objective was to systematically assess the contribution of genetic variation to gait speed in older individuals. We conducted a meta-analysis of gait speed GWASs in 31,478 older adults from 17 cohorts of the CHARGE consortium, and validated our results in 2,588 older adults from 4 independent studies. We followed our initial discoveries with network and eQTL analysis of candidate signals in tissues. The meta-analysis resulted in a list of 536 suggestive genome wide significant SNPs in or near 69 genes. Further interrogation with Pathway Analysis placed gait speed as a polygenic complex trait in five major networks. Subsequent eQTL analysis revealed several SNPs significantly associated with the expression of PRSS16, WDSUB1 and PTPRT, which in addition to the meta-analysis and pathway suggested that genetic effects on gait speed may occur through synaptic function and neuronal development pathways. No genome-wide significant signals for gait speed were identified from this moderately large sample of older adults, suggesting that more refined physical function phenotypes will be needed to identify the genetic basis of gait speed in aging.
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| 50. |
- Coviello, Andrea D, et al.
(författare)
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A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
- 2012
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 8:7
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Tidskriftsartikel (refereegranskat)abstract
- Sex hormone-binding globulin (SHBG) is a glycoprotein responsible for the transport and biologic availability of sex steroid hormones, primarily testosterone and estradiol. SHBG has been associated with chronic diseases including type 2 diabetes (T2D) and with hormone-sensitive cancers such as breast and prostate cancer. We performed a genome-wide association study (GWAS) meta-analysis of 21,791 individuals from 10 epidemiologic studies and validated these findings in 7,046 individuals in an additional six studies. We identified twelve genomic regions (SNPs) associated with circulating SHBG concentrations. Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p=1.8×10(-106)), PRMT6 (rs17496332, 1p13.3, p=1.4×10(-11)), GCKR (rs780093, 2p23.3, p=2.2×10(-16)), ZBTB10 (rs440837, 8q21.13, p=3.4×10(-09)), JMJD1C (rs7910927, 10q21.3, p=6.1×10(-35)), SLCO1B1 (rs4149056, 12p12.1, p=1.9×10(-08)), NR2F2 (rs8023580, 15q26.2, p=8.3×10(-12)), ZNF652 (rs2411984, 17q21.32, p=3.5×10(-14)), TDGF3 (rs1573036, Xq22.3, p=4.1×10(-14)), LHCGR (rs10454142, 2p16.3, p=1.3×10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p=2.7×10(-08)), and UGT2B15 (rs293428, 4q13.2, p=5.5×10(-06)). These genes encompass multiple biologic pathways, including hepatic function, lipid metabolism, carbohydrate metabolism and T2D, androgen and estrogen receptor function, epigenetic effects, and the biology of sex steroid hormone-responsive cancers including breast and prostate cancer. We found evidence of sex-differentiated genetic influences on SHBG. In a sex-specific GWAS, the loci 4q13.2-UGT2B15 was significant in men only (men p=2.5×10(-08), women p=0.66, heterogeneity p=0.003). Additionally, three loci showed strong sex-differentiated effects: 17p13.1-SHBG and Xq22.3-TDGF3 were stronger in men, whereas 8q21.12-ZBTB10 was stronger in women. Conditional analyses identified additional signals at the SHBG gene that together almost double the proportion of variance explained at the locus. Using an independent study of 1,129 individuals, all SNPs identified in the overall or sex-differentiated or conditional analyses explained ∼15.6% and ∼8.4% of the genetic variation of SHBG concentrations in men and women, respectively. The evidence for sex-differentiated effects and allelic heterogeneity highlight the importance of considering these features when estimating complex trait variance.
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