1. |
- Adloff, C, et al.
(author)
-
Inelastic leptoproduction of J/psi mesons at HERA
- 2002
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 41-53
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Journal article (peer-reviewed)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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2. |
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3. |
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4. |
- Adloff, C, et al.
(author)
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Diffractive photoproduction of psi(2S) mesons at HERA
- 2002
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 541:3-4, s. 251-264
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Journal article (peer-reviewed)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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5. |
- Adloff, C, et al.
(author)
-
Inelastic photoproduction of J/psi mesons at HERA
- 2002
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 25-39
-
Journal article (peer-reviewed)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.
(author)
-
Measurement of inclusive jet cross-sections in deep-inelastic ep scattering at HERA
- 2002
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 542:3-4, s. 193-206
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Journal article (peer-reviewed)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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7. |
- Adloff, C, et al.
(author)
-
Search for new physics in e +/- q contact interactions at HERA
- 2003
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 568:1-2, s. 35-47
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Journal article (peer-reviewed)abstract
- Deep-inelastic e(+/-) p scattering at high squared momentum transfer Q(2) up to 30 000 GeV2 is used to search for eq contact interactions associated to scales far beyond the HERA centre of mass energy. The neutral current cross section measurements dsigma / dQ(2), corresponding to integrated luminosities of 16.4 pb(-1) of e(-) p data and 100.8 pb(-1) of e(+) p data, are well described by the Standard Model and are analysed to set constraints on new phenomena. For conventional contact interactions lower limits are set on compositeness scales A ranging between 1.6-5.5 TeV. Couplings and masses of leptoquarks and squarks in R-parity violating supersymmetry are constrained to M / lambda > 0.3-1.4 TeV. A search for low scale quantum gravity effects in models with large extra dimensions provides limits on the effective Planck scale of MS > 0.8 TeV. A form factor analysis yields a bound on the radius of light quarks of R-q < 1.0 10(-18) m. (C) 2003 Published by Elsevier B.V.
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8. |
- Adloff, C, et al.
(author)
-
Search for QCD instanton-induced processes in deep-inelastic scattering at HERA
- 2002
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:4, s. 495-509
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Journal article (peer-reviewed)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. |
- Aktas, A, et al.
(author)
-
A general search for new phenomena in ep scattering at HERA
- 2004
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 602:1-2, s. 14-30
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Journal article (peer-reviewed)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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10. |
- Aktas, A, et al.
(author)
-
Inclusive production of D+, D-0, D-s(+) and D*(+) mesons in deep inelastic scattering at HERA
- 2005
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 38:4, s. 447-459
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Journal article (peer-reviewed)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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11. |
- Aktas, A, et al.
(author)
-
Measurement of anti-deuteron photoproduction and a search for heavy stable charged particles at HERA
- 2004
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 36:4, s. 413-423
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Journal article (peer-reviewed)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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12. |
- Aktas, A, et al.
(author)
-
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
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 40:3, s. 349-359
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Journal article (peer-reviewed)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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13. |
- Aktas, A, et al.
(author)
-
Measurement of prompt photon cross sections in photoproduction at HERA
- 2005
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 38:4, s. 437-445
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Journal article (peer-reviewed)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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14. |
- Aktas, A, et al.
(author)
-
Measurement of the proton structure function F-2 at low Q(2) in QED Compton scattering at HERA
- 2004
-
In: 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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Journal article (peer-reviewed)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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15. |
- Aktas, A, et al.
(author)
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Muon pair production in ep collisions at HERA
- 2004
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 583:1-2, s. 28-40
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Journal article (peer-reviewed)abstract
- Cross sections for the production of two isolated muons up to high di-muon masses are measured in ep collisions at HERA with the H1 detector in a data sample corresponding to an integrated luminosity of 71 pb(-1) at a centre of mass energy of roots = 319 GeV. The results are in good agreement with Standard Model predictions, the dominant process being photon-photon interactions. Additional muons or electrons are searched for in events with two high transverse momentum muons using the full data sample corresponding to 114 pb(-1), where data at roots = 301 GeV and roots = 319 GeV are combined. Both the di-lepton sample and the tri-lepton sample agree Well with the predictions. (C) 2004 Published by Elsevier B.V.
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16. |
- Aktas, A, et al.
(author)
-
Search for bosonic stop decays in R-parity violating supersymmetry in e(+)p collisions at HERA
- 2004
-
In: 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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Journal article (peer-reviewed)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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17. |
- Aktas, A, et al.
(author)
-
Search for squark production in R-parity violating supersymmetry at HERA
- 2004
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 36:4, s. 425-440
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Journal article (peer-reviewed)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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18. |
- Jiang, X., et al.
(author)
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Shared heritability and functional enrichment across six solid cancers
- 2019
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10
-
Journal article (peer-reviewed)abstract
- Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (r(g) = 0.57, p = 4.6 x 10(-8)), breast and ovarian cancer (r(g) = 0.24, p = 7 x 10(-5)), breast and lung cancer (r(g) = 0.18, p = 1.5 x 10(-6)) and breast and colorectal cancer (r(g) = 0.15, p = 1.1 x 10(-4)). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
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19. |
- Speliotes, Elizabeth K., et al.
(author)
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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- 2010
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
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Journal article (peer-reviewed)abstract
- Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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20. |
- Adloff, C, et al.
(author)
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A measurement of the t dependence of the helicity structure of diffractive rho meson electroproduction at HERA
- 2002
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 539:1-2, s. 25-39
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Journal article (peer-reviewed)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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21. |
- Adloff, C, et al.
(author)
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Energy flow and rapidity gaps between jets in photoproduction at HERA
- 2002
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 24:4, s. 517-527
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Journal article (peer-reviewed)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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22. |
- Adloff, C, et al.
(author)
-
Measurement and QCD analysis of neutral and charged current cross sections at HERA
- 2003
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 30:1, s. 1-32
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Journal article (peer-reviewed)abstract
- The inclusive e(+)p single and double differential cross sections for neutral and charged current processes axe measured with the H1 detector at HERA. The data were taken in 1999 and 2000 at a centre-of-mass energy of roots = 319 GeV and correspond to an integrated luminosity of 65.2 pb(-1). The cross sections are measured in the range of four-momentum transfer squared Q(2) between 100 and 30 000 GeV2 and Bjorken x between 0.0013 and 0.65. The neutral current analysis for the new e(+)p data and the earlier e-p data taken in 1998 and 1999 is extended to small energies of the scattered electron and therefore to higher values of inelasticity y, allowing a determination of the longitudinal structure function F-L at high Q(2) (110 - 700 GeV2). A new measurement of the structure function x (F) over tilde (3) is obtained using the new e(+)p and previously published e p neutral current cross section data at high Q(2). These data together with H1 low Q(2) precision data are further used to perform new next-to-leading order QCD analyses in the framework of the Standard Model to extract flavour separated parton distributions in the proton.
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23. |
- Adloff, C, et al.
(author)
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Measurement of dijet cross sections in photoproduction at HERA
- 2002
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 13-23
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Journal article (peer-reviewed)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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24. |
- Adloff, C, et al.
(author)
-
Measurement of inclusive jet cross sections in photoproduction at HERA
- 2003
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 29:4, s. 497-513
-
Journal article (peer-reviewed)abstract
- Inclusive jet cross sections are measured in photoproduction at HERA using the H1 detector. The data sample of e(+)p --> e(+) + jet + X events in the kinematic range of photon virtualities Q(2) less than or equal to 1GeV(2) and photon-proton centre-of-mass energies 95 less than or equal to W-gammap less than or equal to 285GeV represents an integrated luminosity of 24.1pb(-1). Jets are defined using the inclusive k(perpendicular to) algorithm. Single- and multi-differential cross sections are measured as functions of jet transverse energy E-T(jet) and pseudorapidity eta(jet) in the domain 5 less than or equal to E-T(jet) less than or equal to 75GeV and -1 less than or equal to eta(jet) less than or equal to 2.5. The cross sections are found to be in good agreement with next-to-leading order perturbative QCD calculations corrected for fragmentation and underlying event effects. The cross section differential in E-T(jet), which varies by six orders of magnitude over the measured range, is compared with similar distributions from p (p) over bar colliders at equal and higher energies.
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25. |
- Adloff, C, et al.
(author)
-
Search for excited electrons at HERA
- 2002
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 548:1-2, s. 35-44
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Journal article (peer-reviewed)abstract
- A search for excited electron (e*) production is described in which the electroweak decays e* --> egamma, e* --> eZ and e* ---> nuW are considered. The data used correspond to an integrated luminosity of 120 pb(-1) taken in e(+/-)p collisions from 1994 to 2000 with the H1 detector at HERA at centre-of-mass energies of 300 and 318 GeV. No evidence for a signal is found. Mass dependent exclusion limits are derived for the ratio of the couplings to the compositeness scale, f/A. These limits extend the excluded region to higher masses than has been possible in previous direct searches for excited electrons. (C) 2002 Published by Elsevier Science B.V.
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26. |
- Adloff, C, et al.
(author)
-
Search for excited neutrinos at HERA
- 2002
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 525:1-2, s. 9-16
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Journal article (peer-reviewed)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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27. |
- Adloff, C, et al.
(author)
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Search for odderon-induced contributions to exclusive pi(0) photoproduction at HERA
- 2002
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 544:1-2, s. 35-43
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Journal article (peer-reviewed)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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28. |
- Aktas, A, et al.
(author)
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Evidence for a narrow anti-charmed baryon state
- 2004
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 588:1-2, s. 17-28
-
Journal article (peer-reviewed)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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29. |
- Aktas, A, et al.
(author)
-
Inclusive dijet production at low Bjorken-x in deep inelastic scattering
- 2004
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 33:4, s. 477-493
-
Journal article (peer-reviewed)abstract
- Dijet production in deep inelastic ep scattering is investigated in the region of low values of the Bjorken-variable x (10(-4) < x < 10(-2)) and low photon virtualities Q(2) (5 < Q(2) < 100 GeV2). The measured dijet cross sections are compared with perturbative QCD calculations in next-to-leading order. For most dijet variables studied, these calculations can provide a reasonable description of the data over the full phase space region covered, including the region of very low x. However, large discrepancies at low x and low Q(2) are observed for events with small separation in azimuth between the two highest transverse momentum jets. This region of phase space is described better by predictions based on the CCFM evolution equation, which incorporates k(t) factorized unintegrated parton distributions. A reasonable description can be also obtained using the Color Dipole Model or models incorporating virtual photon structure.
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30. |
- Aktas, A, et al.
(author)
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Measurement of dijet production at low Q(2) at HERA
- 2004
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 37:2, s. 141-159
-
Journal article (peer-reviewed)abstract
- Triple differential dijet cross sections in e(+/-)p interactions are presented in the region of photon virtualities 2 < Q(2) < 80 GeV2, inelasticities 0.1 < y < 0.85, jet transverse energies E*(T1) > 7GeV, E*(T2) > 5 GeV, and pseudorapidities - 2.5 < η(1)*, η(2)* < 0. The measurements are made in the gamma*p centre-of-mass frame, using an integrated luminosity of 57 pb(-1). The data are compared with NLO QCD calculations and LO Monte Carlo programs with and without a resolved virtual photon contribution. NLO QCD calculations fail to describe the region of low Q(2) and low jet transverse energies, in contrast to a LO Monte Carlo generator which includes direct and resolved photon interactions with both transversely and longitudinally polarised photons. Initial and final state parton showers are tested as a mechanism for including higher order QCD effects in low E-T jet production.
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31. |
- Aktas, A, et al.
(author)
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Search for light gravitinos in events with photons and missing transverse momentum at HERA
- 2005
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In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 616:1-2, s. 31-42
-
Journal article (peer-reviewed)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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32. |
- Andreev, V, et al.
(author)
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Isolated electrons and muons in events with missing transverse momentum at HERA
- 2003
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 561:3-4, s. 241-257
-
Journal article (peer-reviewed)abstract
- A search for events with a high-energy isolated electron or muon and missing transverse momentum has been performed at the electron-proton collider HERA using an integrated luminosity of 13.6 pb(-1) in e(-) p scattering and 104.7 pb(-1) in e(+) p scattering. Within the Standard Model such events are expected to be mainly due to W boson production with subsequent leptonic decay. In e(-) p interactions one event is observed in the electron channel and none in the muon channel, consistent with the expectation of the Standard Model. In the e(+) p data a total of 18 events are seen in the electron and muon channels compared to an expectation of 12.4 +/- 1.7 dominated by W production (9.4 +/- 1.6). Whilst the overall observed number of events is broadly in agreement with the number predicted by the Standard Model, there is-an excess of events with transverse momentum of the hadronic system greater than 25 GeV with 10 events found compared to 2.9 +/- 0.5 expected. The results are used to determine the cross-section for events with an isolated electron or muon and missing transverse momentum. (C) 2003 Published by Elsevier Science B.V.
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33. |
- Adloff, C, et al.
(author)
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Measurement of D*(+/-) meson production and F-2(c) in deep-inelastic scattering at HERA
- 2002
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 528:3-4, s. 199-214
-
Journal article (peer-reviewed)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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34. |
- Adloff, C, et al.
(author)
-
Measurement of dijet electroproduction at small jet separation
- 2002
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 24:1, s. 33-41
-
Journal article (peer-reviewed)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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35. |
- Aktas, A, et al.
(author)
-
Diffractive photoproduction of J/psi mesons with large momentum transfer at HERA
- 2003
-
In: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 568:3-4, s. 205-218
-
Journal article (peer-reviewed)abstract
- The diffractive photoproduction of J/psi mesons is measured with the HI detector at the ep collider HERA using an integrated luminosity of 78 pb(-1). The differential cross section dsigma(gammap --> J/psiY)/dt is studied in the range 2 < < 30 GeV2, where t is the square of the four-momentum transferred at the proton vertex. The cross section is also presented as a function of the photon-proton centre-of-mass energy W-gammap in three t intervals, spanning the range 50 < W-gammap < 200 GeV. A fast rise of the cross section with W-gammap is observed for each t range and the slope for the effective linear Pomeron trajectory is measured to be alpha' = -0.0135 +/- 0.0074(stat.) +/- 0.0051(syst.) GeV-2. The measurements are compared with perturbative QCD models based on BFKL and DGLAP evolution. The data are found to be compatible with s-channel helicity conservation. (C) 200 Published by Elsevier B.V.
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36. |
- Aktas, A, et al.
(author)
-
Multi-electron production at high transverse momenta in ep collisions at HERA
- 2003
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 31:1, s. 17-29
-
Journal article (peer-reviewed)abstract
- Multi-electron production is studied at high electron transverse momentum in positron- and electron-proton collisions using the H1 detector at HERA. The data correspond to an integrated luminosity of 115 pb(-1). Di-electron and tri-electron event yields are measured. Cross sections are derived in a restricted phase space region dominated by photon-photon collisions. In general good agreement is found with the Standard Model predictions. However, for electron pair invariant masses above 100 GeV, three di-electron events and three tri-electron events are observed, compared to Standard Model expectations of 0.30 +/- 0.04 and 0.23 +/- 0.04, respectively.
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37. |
- Aktas, A, et al.
(author)
-
Search for single top quark production in ep collisions at HERA
- 2004
-
In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 33:1, s. 9-22
-
Journal article (peer-reviewed)abstract
- A search for single top quark production is performed in e(+/-) pcollisions at HERA. The search exploits data corresponding to an integrated luminosity of 118.3 pb(-1). A model for the anomalous production of top quarks in a flavour changing neutral current process involving a tugamma coupling is investigated. Decays of top quarks into a b quark and a W boson are considered in the leptonic and the hadronic decay channels of the W. Both a cut-based analysis and a multivariate likelihood analysis are performed to discriminate anomalous top quark production from Standard Model background processes. In the leptonic channel, 5 events are found while 1.31 +/- 0.22 events are expected from the Standard Model background. In the hadronic channel, no excess above the expectation for Standard Model processes is found. These observations lead to a cross section (ep --> e t X) = 0.29(-0.14)(+0.15) pb at roots = 319 GeV. Alternatively, assuming that the observed events are due to a statistical fluctuation, upper limits of 0.55 pb on the anomalous top production cross section and of 0.27 on the tugamma coupling k(tugamma) are established at the 95% confidence level.
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38. |
- Berndt, Sonja I., et al.
(author)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
-
Journal article (peer-reviewed)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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39. |
- Clark, DW, et al.
(author)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
-
Journal article (peer-reviewed)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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40. |
- Joshi, Peter K, et al.
(author)
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Directional dominance on stature and cognition in diverse human populations
- 2015
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 523:7561, s. 459-462
-
Journal article (peer-reviewed)abstract
- Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.
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41. |
- Lango Allen, Hana, et al.
(author)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
-
In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
-
Journal article (peer-reviewed)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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42. |
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43. |
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44. |
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45. |
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46. |
- Heid, Iris M, et al.
(author)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
-
Journal article (peer-reviewed)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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47. |
- Locke, Adam E, et al.
(author)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Journal article (peer-reviewed)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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48. |
- Teumer, A., et al.
(author)
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Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits
- 2016
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In: Aging Cell. - : Wiley. - 1474-9718 .- 1474-9726. ; 15:5, s. 811-824
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Journal article (peer-reviewed)abstract
- The growth hormone/insulin-like growth factor (IGF) axis can be manipulated in animal models to promote longevity, and IGF-related proteins including IGF-I and IGF-binding protein-3 (IGFBP-3) have also been implicated in risk of human diseases including cardiovascular diseases, diabetes, and cancer. Through genomewide association study of up to 30884 adults of European ancestry from 21 studies, we confirmed and extended the list of previously identified loci associated with circulating IGF-I and IGFBP-3 concentrations (IGF1, IGFBP3, GCKR, TNS3, GHSR, FOXO3, ASXL2, NUBP2/IGFALS, SORCS2, and CELSR2). Significant sex interactions, which were characterized by different genotype–phenotype associations between men and women, were found only for associations of IGFBP-3 concentrations with SNPs at the loci IGFBP3 and SORCS2. Analyses of SNPs, gene expression, and protein levels suggested that interplay between IGFBP3 and genes within the NUBP2 locus (IGFALS and HAGH) may affect circulating IGF-I and IGFBP-3 concentrations. The IGF-I-decreasing allele of SNP rs934073, which is an eQTL of ASXL2, was associated with lower adiposity and higher likelihood of survival beyond 90years. The known longevity-associated variant rs2153960 (FOXO3) was observed to be a genomewide significant SNP for IGF-I concentrations. Bioinformatics analysis suggested enrichment of putative regulatory elements among these IGF-I- and IGFBP-3-associated loci, particularly of rs646776 at CELSR2. In conclusion, this study identified several loci associated with circulating IGF-I and IGFBP-3 concentrations and provides clues to the potential role of the IGF axis in mediating effects of known (FOXO3) and novel (ASXL2) longevity-associated loci. © 2016 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.
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49. |
- Yang, Jian, et al.
(author)
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FTO genotype is associated with phenotypic variability of body mass index
- 2012
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 490:7419, s. 267-272
-
Journal article (peer-reviewed)abstract
- There is evidence across several species for genetic control of phenotypic variation of complex traits(1-4), such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is important in evolutionary biology, agricultural selection programmes and human medicine, yet for complex traits, no individual genetic variants associated with variance, as opposed to the mean, have been identified. Here we perform a meta-analysis of genome-wide association studies of phenotypic variation using similar to 170,000 samples on height and body mass index (BMI) in human populations. We report evidence that the single nucleotide polymorphism (SNP) rs7202116 at the FTO gene locus, which is known to be associated with obesity (as measured by mean BMI for each rs7202116 genotype)(5-7), is also associated with phenotypic variability. We show that the results are not due to scale effects or other artefacts, and find no other experiment-wise significant evidence for effects on variability, either at loci other than FTO for BMI or at any locus for height. The difference in variance for BMI among individuals with opposite homozygous genotypes at the FTO locus is approximately 7%, corresponding to a difference of similar to 0.5 kilograms in the standard deviation of weight. Our results indicate that genetic variants can be discovered that are associated with variability, and that between-person variability in obesity can partly be explained by the genotype at the FTO locus. The results are consistent with reported FTO by environment interactions for BMI8, possibly mediated by DNA methylation(9,10). Our BMI results for other SNPs and our height results for all SNPs suggest that most genetic variants, including those that influence mean height or mean BMI, are not associated with phenotypic variance, or that their effects on variability are too small to detect even with samples sizes greater than 100,000.
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50. |
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