The genetic architecture of the human cerebral cortex

INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be measured in vivo by magnetic resonance imaging (MRI). Studies in model organisms have identified genes that influence cortical structure, but little is known about common genetic variants that affect human cortical structure. RATIONALE To identify genetic variants associated with human cortical structure at both global and regional levels, we conducted a genome-wide association meta-analysis of brain MRI data from 51,665 individuals across 60 cohorts. We analyzed the surface area and average thickness of the whole cortex and 34 cortical regions with known functional specializations. RESULTS We identified 306 nominally genome-wide significant loci (P < 5 × 10−8) associated with cortical structure in a discovery sample of 33,992 participants of European ancestry. Of the 299 loci for which replication data were available, 241 loci influencing surface area and 14 influencing thickness remained significant after replication, with 199 loci passing multiple testing correction (P < 8.3 × 10−10; 187 influencing surface area and 12 influencing thickness). Common genetic variants explained 34% (SE = 3%) of the variation in total surface area and 26% (SE = 2%) in average thickness; surface area and thickness showed a negative genetic correlation (rG = −0.32, SE = 0.05, P = 6.5 × 10−12), which suggests that genetic influences have opposing effects on surface area and thickness. Bioinformatic analyses showed that total surface area is influenced by genetic variants that alter gene regulatory activity in neural progenitor cells during fetal development. By contrast, average thickness is influenced by active regulatory elements in adult brain samples, which may reflect processes that occur after mid-fetal development, such as myelination, branching, or pruning. When considered together, these results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness. To identify specific genetic influences on individual cortical regions, we controlled for global measures (total surface area or average thickness) in the regional analyses. After multiple testing correction, we identified 175 loci that influence regional surface area and 10 that influence regional thickness. Loci that affect regional surface area cluster near genes involved in the Wnt signaling pathway, which is known to influence areal identity. We observed significant positive genetic correlations and evidence of bidirectional causation of total surface area with both general cognitive functioning and educational attainment. We found additional positive genetic correlations between total surface area and Parkinson’s disease but did not find evidence of causation. Negative genetic correlations were evident between total surface area and insomnia, attention deficit hyperactivity disorder, depressive symptoms, major depressive disorder, and neuroticism. CONCLUSION This large-scale collaborative work enhances our understanding of the genetic architecture of the human cerebral cortex and its regional patterning. The highly polygenic architecture of the cortex suggests that distinct genes are involved in the development of specific cortical areas. Moreover, we find evidence that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function

Angular analysis of the decay B0→K*0μ+μ- from pp collisions at s=8 TeV

The angular distributions and the differential branching fraction of the decay B0→K⁎(892)0μ+μ− are studied using data corresponding to an integrated luminosity of 20.5 fb −1 collected with the CMS detector at the LHC in pp collisions at s=8 TeV . From 1430 signal decays, the forward–backward asymmetry of the muons, the K⁎(892)0 longitudinal polarization fraction, and the differential branching fraction are determined as a function of the dimuon invariant mass squared. The measurements are among the most precise to date and are in good agreement with standard model predictions

Search for the production of an excited bottom quark decaying to tW in proton-proton collisions at root s=8 TeV

Peer reviewe

Decomposing transverse momentum balance contributions for quenched jets in PbPb collisions at √sNN=2.76 TeV

Interactions between jets and the quark-gluon plasma produced in heavy ion collisions are studied via the angular distributions of summed charged-particle transverse momenta (pT) with respect to both the leading and subleading jet axes in high-pT dijet events. The contributions of charged particles in different momentum ranges to the overall event pT balance are decomposed into short-range jet peaks and a long-range azimuthal asymmetry in charged-particle pT. The results for PbPb collisions are compared to those in pp collisions using data collected in 2011 and 2013, at collision energy √ sNN = 2.76 TeV with integrated luminosities of 166 µb −1 and 5.3 pb−1 , respectively, by the CMS experiment at the LHC. Measurements are presented as functions of PbPb collision centrality, charged-particle pT, relative azimuth, and radial distance from the jet axis for balanced and unbalanced dijets

Search for supersymmetry in the vector-boson fusion topology in proton-proton collisions at √s = 8 TeV

The first search for supersymmetry in the vector-boson fusion topology is presented. The search targets final states with at least two leptons, large missing transverse momentum, and two jets with a large separation in rapidity. The data sample corresponds to an integrated luminosity of 19.7 fb −1 of proton-proton collisions at s = 8 s√=8 TeV collected with the CMS detector at the CERN LHC. The observed dijet invariant mass spectrum is found to be consistent with the expected standard model prediction. Upper limits are set on the cross sections for chargino and neutralino production with two associated jets, assuming the supersymmetric partner of the τ lepton to be the lightest slepton and the lightest slepton to be lighter than the charginos. For a so-called compressed-mass-spectrum scenario in which the mass difference between the lightest supersymmetric particle χ ˜ 1 0 χ~01 and the next lightest, mass-degenerate, gaugino particles χ ˜ 2 0 χ~02 and χ ˜ 1 ± χ~±1 is 50 GeV, a mass lower limit of 170 GeV is set for these latter two particles

Creating Standardized Video Recordings of Multimodal Interactions across Cultures

Abstract. Trying to adapt the behavior of an interactive system to the cultural background of the user requires information on how relevant behaviors differ as a function of the user’s cultural background. To gain such insights in the interrelation of culture and behavior patterns, the information from the literature is often too anecdotal to serve as the basis for modeling a system’s behavior, making it necessary to collect multimodal corpora in a standardized fashion in different cultures. In this chapter, the challenges of such an endeavor are introduced and solutions are presented by examples from a German-Japanese project that aims at modeling culture-specific behaviors for Embodied Conversational Agents.