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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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3.
  • Aad, G., et al. (författare)
  • Measurement of inclusive jet and dijet cross sections in proton-proton collisions at 7 TeV centre-of-mass energy with the ATLAS detector
  • 2011
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer. - 1434-6044 .- 1434-6052. ; 71:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Jet cross sections have been measured for the first time in proton-proton collisions at a centre-of-mass energy of 7 TeV using the ATLAS detector. The measurement uses an integrated luminosity of 17 nb(-1) recorded at the Large Hadron Collider. The anti-k(t) algorithm is used to identify jets, with two jet resolution parameters, R = 0.4 and 0.6. The dominant uncertainty comes from the jet energy scale, which is determined to within 7% for central jets above 60 GeV transverse momentum. Inclusive single-jet differential cross sections are presented as functions of jet transverse momentum and rapidity. Dijet cross sections are presented as functions of dijet mass and the angular variable chi. The results are compared to expectations based on next-to-leading-order QCD, which agree with the data, providing a validation of the theory in a new kinematic regime.
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4.
  • Aad, G., et al. (författare)
  • Performance of the ATLAS detector using first collision data
  • 2010
  • Ingår i: Journal of High Energy Physics. - : Springer. - 1029-8479 .- 1126-6708. ; 56:9
  • Tidskriftsartikel (refereegranskat)abstract
    • More than half a million minimum-bias events of LHC collision data were collected by the ATLAS experiment in December 2009 at centre-of-mass energies of 0.9 TeV and 2.36 TeV. This paper reports on studies of the initial performance of the ATLAS detector from these data. Comparisons between data and Monte Carlo predictions are shown for distributions of several track- and calorimeter-based quantities. The good performance of the ATLAS detector in these first data gives confidence for successful running at higher energies.
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5.
  • Aad, G., et al. (författare)
  • Search for massive colored scalars in four-jet final states in root s=7 TeV proton-proton collisions with the ATLAS detector
  • 2011
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer. - 1434-6044 .- 1434-6052. ; 71:12
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for pair-produced scalar particles decaying to a four-jet final state is presented. The analysis is performed using an integrated luminosity of 34 pb(-1) recorded by the ATLAS detector in 2010. No deviation from the Standard Model is observed. For a scalar mass of 100 GeV (190 GeV) the limit on the scalar gluon pair production cross section at 95% confidence level is 1 nb (0.28 nb). When these results are interpreted as mass limits, scalar-gluons (hyperpions) with masses of 100 to 185 GeV (100 to 155 GeV) are excluded at 95% confidence level with the exception of a mass window of width about 5 GeV (15 GeV) around 140 GeV.
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6.
  • Aad, G., et al. (författare)
  • Search for New Particles in Two-Jet Final States in 7 TeV Proton-Proton Collisions with the ATLAS Detector at the LHC
  • 2010
  • Ingår i: Physical Review Letters. - : American Physical Society. - 1079-7114 .- 0031-9007. ; 105:16
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for new heavy particles manifested as resonances in two-jet final states is presented. The data were produced in 7 TeV proton-proton collisions by the LHC and correspond to an integrated luminosity of 315 nb(-1) collected by the ATLAS detector. No resonances were observed. Upper limits were set on the product of cross section and signal acceptance for excited-quark (q*) production as a function of q* mass. These exclude at the 95% C. L. the q* mass interval 0: 30< m(q)*< 1:26 TeV, extending the reach of previous experiments.
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7.
  • Aad, G., et al. (författare)
  • The ATLAS Experiment at the CERN Large Hadron Collider
  • 2008
  • Ingår i: Journal of Instrumentation. - : IOP Publishing. - 1748-0221. ; 3:S08003:3, s. S08003-
  • Forskningsöversikt (refereegranskat)abstract
    • The ATLAS detector as installed in its experimental cavern at point 1 at CERN is described in this paper. A brief overview of the expected performance of the detector when the Large Hadron Collider begins operation is also presented.
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8.
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9.
  • Joshi, Peter K, et al. (författare)
  • Directional dominance on stature and cognition in diverse human populations
  • 2015
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 523:7561, s. 459-462
  • Tidskriftsartikel (refereegranskat)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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10.
  • 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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