National and Kapodistrian University of Athens

Observation of a new particle in the search for the Standard Model Higgs boson with the ATLAS detector at the LHC

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Schizophrenia has a heritability of 60–80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies. A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

Global guideline for the diagnosis and management of mucormycosis: an initiative of the European Confederation of Medical Mycology in cooperation with the Mycoses Study Group Education and Research Consortium

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies. Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.

Definition and diagnostic criteria of clinical obesity

Out-of-plane measurements of the fifth response function of the exclusive electronuclear response

The first measurements of ${f}_{\mathrm{LT}}^{\ensuremath{'}},$ known as the fifth response function, have been made for the ${}^{2}\mathrm{H}(\stackrel{\ensuremath{\rightarrow}}{e}{,e}^{\ensuremath{'}}p)$ and ${}^{12}\mathrm{C}(\stackrel{\ensuremath{\rightarrow}}{e}{,e}^{\ensuremath{'}}p)$ reactions. This response is directly related to the imaginary part of the interference between the transverse and longitudinal nuclear electromagnetic currents. Its observation requires longitudinally polarized electron beams and out-of-plane detection, the latter made possible by the newly developed out-of-plane spectrometer system. The initial measurements were made by using a 560-MeV polarized electron beam and quasielastic kinematics at ${Q}^{2}=3.3 {\mathrm{fm}}^{\ensuremath{-}2}.$ The development of the methodology for out-of-plane physics, and the analysis of the data from the initial experiments are described in detail. The measured fifth response and the related asymmetry in the coincidence cross section are in agreement, albeit with large statistical errors, with the theoretical predictions. Future extensions of the out-of-plane program are also discussed.