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1.
  • Justice, A. E., et al. (författare)
  • Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
  • 2017
  • Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
  • 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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3.
  • 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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4.
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5.
  • Aktas, A, et al. (författare)
  • A direct search for stable magnetic monopoles produced in positron-proton collisions at HERA
  • 2005
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer. - 1434-6044. ; 41, s. 133-141
  • 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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6.
  • Aktas, A, et al. (författare)
  • A general search for new phenomena in ep scattering at HERA
  • 2004
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693. ; 602:1-2, s. 14-30
  • 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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7.
  • Aktas, A, et al. (författare)
  • Search for light gravitinos in events with photons and missing transverse momentum at HERA
  • 2005
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693. ; 616:1-2, s. 31-42
  • 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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8.
  • Lee, James J, et al. (författare)
  • Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
  • 2018
  • Ingår i: Nature genetics. - 1546-1718 .- 1061-4036. ; 50:8, s. 1112-1121
  • Tidskriftsartikel (refereegranskat)abstract
    • Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1 million individuals and identify 1,271 independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10 independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11-13% of the variance in educational attainment and 7-10% of the variance in cognitive performance. This prediction accuracy substantially increases the utility of polygenic scores as tools in research.
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9.
  • Aktas, A, et al. (författare)
  • Evidence for a narrow anti-charmed baryon state
  • 2004
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693. ; 588:1-2, s. 17-28
  • 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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10.
  • Aktas, A, et al. (författare)
  • Measurement of charm and beauty photoproduction at HERA using D*mu correlations
  • 2005
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693. ; 621:1-2, s. 56-71
  • 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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