Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

2014

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693…

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

2017

Item does not contain fulltext Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic ne…

Search for high-mass dilepton resonances using 139 fb−1 of pp collision data collected at s=13 TeV with the ATLAS detector

2019

A search for high-mass dielectron and dimuon resonances in the mass range of 250 GeV to 6 TeV is presented. The data were recorded by the ATLAS experiment in proton–proton collisions at a centre-of-mass energy of s=13 TeV during Run 2 of the Large Hadron Collider and correspond to an integrated luminosity of 139 fb −1 . A functional form is fitted to the dilepton invariant-mass distribution to model the contribution from background processes, and a generic signal shape is used to determine the significance of observed deviations from this background estimate. No significant deviation is observed and upper limits are placed at the 95% confidence level on the fiducial cross-section times bran…

Properties of jet fragmentation using charged particles measured with the ATLAS detector in pp collisions at s=13  TeV

2019

This paper presents a measurement of quantities related to the formation of jets from high-energy quarks and gluons (fragmentation). Jets with transverse momentum 100 GeV 500 MeV and vertical bar ...

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

2013

Author version made available in accordance with the publisher's policy.

Resolution of the ATLAS muon spectrometer monitored drift tubes in LHC Run 2

2019

The momentum measurement capability of the ATLAS muon spectrometer relies fundamentally on the intrinsic single-hit spatial resolution of the monitored drift tube precision tracking chambers. Optimal resolution is achieved with a dedicated calibration program that addresses the specific operating conditions of the 354 000 high-pressure drift tubes in the spectrometer. The calibrations consist of a set of timing offsets and drift time to drift distance transfer relations, and result in chamber resolution functions. This paper describes novel algorithms to obtain precision calibrations from data collected by ATLAS in LHC Run 2 and from a gas monitoring chamber, deployed in a dedicated gas fac…

Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

2013

Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse …

Electron and photon performance measurements with the ATLAS detector using the 2015-2017 LHC proton-proton collision data

2019

This paper describes the reconstruction of electrons and photons with the ATLAS detector, employed for measurements and searches exploiting the complete LHC Run 2 dataset. An improved energy clustering algorithm is introduced, and its implications for the measurement and identification of prompt electrons and photons are discussed in detail. Corrections and calibrations that affect performance, including energy calibration, identification and isolation efficiencies, and the measurement of the charge of reconstructed electron candidates are determined using up to 81 fb−1 of proton-proton collision data collected at √s=13 TeV between 2015 and 2017.

Search for direct stau production in events with two hadronic τ -leptons in s=13  TeV pp collisions with the ATLAS detector

2020

A search for the direct production of the supersymmetric partners of τ -leptons (staus) in final states with two hadronically decaying τ -leptons is presented. The analysis uses a dataset of p p collisions corresponding to an integrated luminosity of 139     fb − 1 , recorded with the ATLAS detector at the Large Hadron Collider at a center-of-mass energy of 13 TeV. No significant deviation from the expected Standard Model background is observed. Limits are derived in scenarios of direct production of stau pairs with each stau decaying into the stable lightest neutralino and one τ -lepton in simplified models where the two stau mass eigenstates are degenerate. Stau masses from 120 GeV to 390…

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

2012

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on …

Search for a right-handed gauge boson decaying into a high-momentum heavy neutrino and a charged lepton in pp collisions with the ATLAS detector at s…

2019

A search for a right-handed gauge boson WR, decaying into a boosted right-handed heavy neutrino NR, in the framework of Left-Right Symmetric Models is presented. It is based on data from proton–proton collisions with a centre-of-mass energy of 13 TeV collected by the ATLAS detector at the Large Hadron Collider during the years 2015, 2016 and 2017, corresponding to an integrated luminosity of 80 fb$^{−1}$. The search is performed separately for electrons and muons in the final state. A distinguishing feature of the search is the use of large-radius jets containing electrons. Selections based on the signal topology result in smaller background compared to the expected signal. No significant d…

Search for a heavy charged boson in events with a charged lepton and missing transverse momentum from pp collisions at s=13  TeV with the ATLAS detec…

2019

A search for a heavy charged-boson resonance decaying into a charged lepton (electron or muon) and a neutrino is reported. A data sample of 139  fb−1 of proton-proton collisions at √s=13  TeV collected with the ATLAS detector at the LHC during 2015–2018 is used in the search. The observed transverse mass distribution computed from the lepton and missing transverse momenta is consistent with the distribution expected from the Standard Model, and upper limits on the cross section for pp→W′→lν are extracted (l=e or μ). These vary between 1.3 pb and 0.05 fb depending on the resonance mass in the range between 0.15 and 7.0 TeV at 95% confidence level for the electron and muon channels combined. …

40(th) EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004

2004

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

2015

Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, …

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

2013

Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye…

Haplotype reference consortium panel: Practical implications of imputations with large reference panels.

2017

Contains fulltext : 177754.pdf (Publisher’s version ) (Open Access) Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, that is, 1000 genomes project (1000GP) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed genotypes at common, and especially, low-frequency variants. Furthermore, we performed a genome-wide association meta-analysis of vertical cup-disc ratio, a highly heritable endophenotype of glaucoma, in four cohorts usin…

ATLAS data quality operations and performance for 2015-2018 data-taking

2020

The ATLAS detector at the Large Hadron Collider reads out particle collision data from over 100 million electronic channels at a rate of approximately 100 kHz, with a recording rate for physics events of approximately 1 kHz. Before being certified for physics analysis at computer centres worldwide, the data must be scrutinised to ensure they are clean from any hardware or software related issues that may compromise their integrity. Prompt identification of these issues permits fast action to investigate, correct and potentially prevent future such problems that could render the data unusable. This is achieved through the monitoring of detector-level quantities and reconstructed collision ev…

Two-particle azimuthal correlations in photonuclear ultraperipheral Pb+Pb collisions at 5.02 TeV with ATLAS

2021

We thank CERN for the very successful operation of the LHC, as well as the support staff from our institutions without whom ATLAS could not be operated efficiently. We acknowledge the support of ANPCyT, Argentina, YerPhI, Armenia, ARC, Australia, BMWFW and FWF, Austria, ANAS, Azerbaijan, SSTC, Belarus, CNPq and FAPESP, Brazil, NSERC, NRC, and CFI, Canada, CERN and ANID, Chile, CAS, MOST, and NSFC, China, COLCIENCIAS, Colombia, MSMT CR, MPO CR, and VSC CR, Czech Republic, DNRF and DNSRC, Denmark, IN2P3-CNRS and CEA-DRF/IRFU, France, SRNSFG, Georgia, BMBF, HGF, and MPG, Germany, GSRT, Greece, RGC and Hong Kong SAR, China, ISF and Benoziyo Center, Israel, INFN, Italy, MEXT and JSPS, Japan, CNR…