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1.
  • Barban, Nicola, et al. (författare)
  • Genome-wide analysis identifies 12 loci influencing human reproductive behavior
  • 2016
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 48:12, s. 1462-1472
  • Tidskriftsartikel (refereegranskat)abstract
    • The genetic architecture of human reproductive behavior age at first birth (AFB) and number of children ever born (NEB) has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.
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2.
  • Munn-Chernoff, M. A., et al. (författare)
  • Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies
  • 2021
  • Ingår i: Addiction Biology. - 1355-6215 .- 1369-1600. ; 26:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [r(g)], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from similar to 2400 to similar to 537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (r(g) = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (r(g) = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (r(g) = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (r(gs) = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
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3.
  • Perry, John R. B., et al. (författare)
  • Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
  • 2014
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 514:7520, s. 92-
  • Tidskriftsartikel (refereegranskat)abstract
    • Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-causemortality(1). Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation(2,3), but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and gamma-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.
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4.
  • Aad, G., et al. (författare)
  • A measurement of the ratio of the production cross sections for W and Z bosons in association with jets with the ATLAS detector
  • 2014
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer. - 1434-6044 .- 1434-6052. ; 74:12
  • Tidskriftsartikel (refereegranskat)abstract
    • The ratio of the production cross sections for W and Z bosons in association with jets has been measured in proton-proton collisions at root s = 7 TeV with the ATLAS experiment at the Large Hadron Collider. The measurement is based on the entire 2011 dataset, corresponding to an integrated luminosity of 4.6 fb(-1). Inclusive and differential cross-section ratios for massive vector bosons decaying to electrons and muons are measured in association with jets with transverse momentum p(T) > 30 GeV and jet rapidity vertical bar y vertical bar < 4.4. The measurements are compared to next-to-leading-order perturbative QCD calculations and to predictions from different Monte Carlo generators implementing leading-order matrix elements supplemented by parton showers.
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5.
  • Aad, G., et al. (författare)
  • A measurement of the ratio of the W and Z cross sections with exactly one associated jet in pp collisions at root s=7 TeV with ATLAS
  • 2012
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693 .- 1873-2445. ; 708:3-5, s. 221-240
  • Tidskriftsartikel (refereegranskat)abstract
    • The ratio of production cross sections of the W and Z bosons with exactly one associated jet is presented as a function of jet transverse momentum threshold. The measurement has been designed to maximise cancellation of experimental and theoretical uncertainties, and is reported both within a particle-level kinematic range corresponding to the detector acceptance and as a total cross-section ratio. Results are obtained with the ATLAS detector at the LHC in pp collisions at a centre-of-mass energy of 7 TeV using an integrated luminosity of 33 pb(-1). The results are compared with perturbative leading-order, leading-log, and next-to-leading-order QCD predictions, and are found to agree within experimental and theoretical uncertainties. The ratio is measured for events with a single jet with p(T) > 30 GeV to be 8.73 +/- 0.30(stat) +/- 0.40(syst) in the electron channel, and 8.49 +/- 0.23(stat) +/- 0.33(syst) in the muon channel. (C) 2012 CERN. Published by Elsevier B.V. All rights reserved.
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6.
  • Aad, G., et al. (författare)
  • A search for flavour changing neutral currents in top-quark decays in pp collision data collected with the ATLAS detector at root s=7 TeV
  • 2012
  • Ingår i: Journal of High Energy Physics. - : Springer. - 1029-8479 .- 1126-6708. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for flavour changing neutral current (FCNC) processes in top-quark decays by the ATLAS Collaboration is presented. Data collected from pp collisions at the LHC at a centre-of-mass energy of root s = 7 TeV during 2011, corresponding to an integrated luminosity of 2.1 fb(-1), were used. A search was performed for top-quark pair-production events, with one top quark decaying through the t -> Zq FCNC (q = u, c) channel, and the other through the Standard Model dominant mode t -> Wb. Only the decays of the Z boson to charged leptons and leptonic W-boson decays were considered as signal. Consequently, the final-state topology is characterised by the presence of three isolated charged leptons, at least two jets and missing transverse momentum from the undetected neutrino. No evidence for an FCNC signal was found. An upper limit on the t -> Zq branching ratio of BR(t -> Zq) < 0.73% is set at the 95% confidence level.
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7.
  • Aad, G., et al. (författare)
  • A search for high-mass resonances decaying to tau(+)tau(-) in pp collisions at root s=7 TeV with the ATLAS detector
  • 2013
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693 .- 1873-2445. ; 719:4-5, s. 242-260
  • Tidskriftsartikel (refereegranskat)abstract
    • This Letter presents a search for high-mass resonances decaying into tau(+)tau(-) final states using proton-proton collisions at root s = 7 TeV produced by the Large Hadron Collider. The data were recorded with the ATLAS detector and correspond to an integrated luminosity of 4.6 fb(-1). No statistically significant excess above the Standard Model expectation is observed; 95% credibility upper limits are set on the cross section times branching fraction of Z' resonances decaying into tau(+)tau(-) pairs as a function of the resonance mass. As a result, Z' bosons of the Sequential Standard Model with masses less than 1.40 TeV are excluded at 95% credibility. (c) 2013 CERN. Published by Elsevier B.V. All rights reserved.
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8.
  • Aad, G., et al. (författare)
  • A search for prompt lepton-jets in pp collisions at root s=7 TeV with the ATLAS detector
  • 2013
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693 .- 1873-2445. ; 719:4-5, s. 299-317
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a search for a light (mass < 2 GeV) boson predicted by Hidden Valley supersymmetric models that decays into a final state consisting of collimated muons or electrons, denoted "lepton-jets". The analysis uses 5 fb(-1) of root s = 7 TeV proton-proton collision data recorded by the ATLAS detector at the Large Hadron Collider to search for the following signatures: single lepton-jets with at least four muons; pairs of lepton-jets, each with two or more muons; and pairs of lepton-jets with two or more electrons. This study finds no statistically significant deviation from the Standard Model prediction and places 95% confidence-level exclusion limits on the production cross section times branching ratio of light bosons for several parameter sets of a Hidden Valley model. (c) 2013 CERN. Published by Elsevier B.V. All rights reserved.
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9.
  • Aad, G., et al. (författare)
  • A search for t(t)over-bar resonances in lepton plus jets events with highly boosted top quarks collected in pp collisions at root s=7 TeV with the ATLAS detector
  • 2012
  • Ingår i: Journal of High Energy Physics. - : Springer. - 1029-8479 .- 1126-6708. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for resonant production of high-mass top-quark pairs is performed on 2.05 fb(-1) of proton-proton collisions at root s = 7 TeV collected in 2011 with the ATLAS experiment at the Large Hadron Collider. This analysis of the lepton+jets final state is specifically designed for the particular topology that arises from the decay of highly boosted top quarks. The observed t (t) over bar invariant mass spectrum is found to be compatible with the Standard Model prediction and 95% credibility level upper limits are derived on the t (t) over bar production rate through new massive states. An upper limit of 0.7 pb is set on the production cross section times branching fraction of a narrow 1 TeV resonance. A Kaluza-Klein gluon with a mass smaller than 1.5 TeV is excluded.
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10.
  • Aad, G., et al. (författare)
  • A search for t (t)over-bar resonances with the ATLAS detector in 2.05 fb(-1) of proton-proton collisions at root s=7 TeV
  • 2012
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer. - 1434-6044 .- 1434-6052. ; 72:7
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for top quark pair resonances in final states containing at least one electron or muon has been performed with the ATLAS experiment at the CERN Large Hadron Collider. The search uses a data sample corresponding to an integrated luminosity of 2.05 fb(-1), which was recorded in 2011 at a proton-proton centre-of-mass energy of 7 TeV. No evidence for a resonance is found and limits are set on the production cross-section times branching ratio to t (t) over bar for narrow and wide resonances. For narrow Z' bosons, the observed 95 % Bayesian credibility level limits range from 9.3 pb to 0.95 pb for masses in the range of m(Z') = 500 GeV to m(Z') = 1300 GeV. The corresponding excluded mass region for a leptophobic topcolour Z' boson (Kaluza-Klein gluon excitation in the Randall-Sundrum model) is m(Z') < 880 GeV (m(gKK) < 1130 GeV).
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