Geerts, D A A*
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Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. Subsequently, we sequenced PLD3 in a Belgian early-onset Alzheimer disease (EOAD) patient (N = 261) and control (N = 319) cohort, as well as in European EOAD patients (N = 946) and control individuals (N = 1,209) ascertained in different European countries. Overall, we identified 22 rare variants with a minor allele frequency <1%, 20 missense and two splicing mutations. Burden analysis did not provide significant evidence for an enrichment of rare PLD3 variants in EOAD patients in any of the patient/control cohorts. Also, meta-analysis of the PLD3 data, including a published dataset of a German EOAD cohort, was not significant (P = 0.43; OR = 1.53, 95% CI 0.60-3.31). Consequently, our data do not support a role for PLD3 rare variants in the genetic etiology of EOAD in European EOAD patients. Our data corroborate the negative replication data obtained in LOAD studies and therefore a genetic role of PLD3 in AD remains to be demonstrated.
- Klíčová slova
- Alzheimer dementia, EOAD, PLD3, meta-analysis, next-generation sequencing, rare variants,
- MeSH
- alely MeSH
- alternativní sestřih MeSH
- Alzheimerova nemoc epidemiologie genetika MeSH
- dospělí MeSH
- exom MeSH
- fosfolipasa D genetika MeSH
- genetická predispozice k nemoci * MeSH
- genetická variace * MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- metaanalýza jako téma MeSH
- odds ratio MeSH
- riziko MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- věk při počátku nemoci MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa epidemiologie MeSH
- Názvy látek
- fosfolipasa D MeSH
- PLD3 protein, human MeSH Prohlížeč
A search for a new resonance decaying to a W or Z boson and a Higgs boson in the [Formula: see text] final states is performed using 20.3 fb[Formula: see text] of pp collision data recorded at [Formula: see text] 8 TeV with the ATLAS detector at the Large Hadron Collider. The search is conducted by examining the WH / ZH invariant mass distribution for a localized excess. No significant deviation from the Standard Model background prediction is observed. The results are interpreted in terms of constraints on the Minimal Walking Technicolor model and on a simplified approach based on a phenomenological Lagrangian of Heavy Vector Triplets.
- Publikační typ
- časopisecké články MeSH
A search is presented for the direct pair production of a chargino and a neutralino [Formula: see text], where the chargino decays to the lightest neutralino and the [Formula: see text] boson, [Formula: see text], while the neutralino decays to the lightest neutralino and the 125 GeV Higgs boson, [Formula: see text]. The final states considered for the search have large missing transverse momentum, an isolated electron or muon, and one of the following: either two jets identified as originating from bottom quarks, or two photons, or a second electron or muon with the same electric charge. The analysis is based on 20.3 [Formula: see text] of [Formula: see text] proton-proton collision data delivered by the Large Hadron Collider and recorded with the ATLAS detector. Observations are consistent with the Standard Model expectations, and limits are set in the context of a simplified supersymmetric model.
- Publikační typ
- časopisecké články MeSH
A search is presented for narrow diboson resonances decaying to [Formula: see text] or [Formula: see text] in the final state where one [Formula: see text] boson decays leptonically (to an electron or a muon plus a neutrino) and the other [Formula: see text] boson decays hadronically. The analysis is performed using an integrated luminosity of 20.3 fb[Formula: see text] of [Formula: see text] collisions at [Formula: see text] TeV collected by the ATLAS detector at the large hadron collider. No evidence for resonant diboson production is observed, and resonance masses below 700 and 1490 GeV are excluded at 95 % confidence level for the spin-2 Randall-Sundrum bulk graviton [Formula: see text] with coupling constant of 1.0 and the extended gauge model [Formula: see text] boson respectively.
- Publikační typ
- časopisecké články MeSH
A search for Higgs boson decays to invisible particles is performed using 20.3 [Formula: see text] of pp collision data at a centre-of-mass energy of 8 TeV recorded by the ATLAS detector at the Large Hadron Collider. The process considered is Higgs boson production in association with a vector boson ([Formula: see text] or Z) that decays hadronically, resulting in events with two or more jets and large missing transverse momentum. No excess of candidates is observed in the data over the background expectation. The results are used to constrain VH production followed by H decaying to invisible particles for the Higgs boson mass range [Formula: see text] GeV. The 95 % confidence-level observed upper limit on [Formula: see text] varies from 1.6 pb at 115 GeV to 0.13 pb at 300 GeV. Assuming Standard Model production and including the [Formula: see text] contribution as signal, the results also lead to an observed upper limit of 78 % at 95 % confidence level on the branching ratio of Higgs bosons decays to invisible particles at a mass of 125 GeV.
- Publikační typ
- časopisecké články MeSH
Two searches for supersymmetric particles in final states containing a same-flavour opposite-sign lepton pair, jets and large missing transverse momentum are presented. The proton-proton collision data used in these searches were collected at a centre-of-mass energy [Formula: see text] TeV by the ATLAS detector at the Large Hadron Collider and corresponds to an integrated luminosity of 20.3 fb[Formula: see text]. Two leptonic production mechanisms are considered: decays of squarks and gluinos with Z bosons in the final state, resulting in a peak in the dilepton invariant mass distribution around the Z-boson mass; and decays of neutralinos (e.g. [Formula: see text]), resulting in a kinematic endpoint in the dilepton invariant mass distribution. For the former, an excess of events above the expected Standard Model background is observed, with a significance of three standard deviations. In the latter case, the data are well-described by the expected Standard Model background. The results from each channel are interpreted in the context of several supersymmetric models involving the production of squarks and gluinos.
- Publikační typ
- časopisecké články MeSH
This Letter presents a search for a heavy neutral particle decaying into an opposite-sign different-flavor dilepton pair, e^{±}μ^{∓}, e^{±}τ^{∓}, or μ^{±}τ^{∓} using 20.3 fb^{-1} of pp collision data at sqrt[s]=8 TeV collected by the ATLAS detector at the LHC. The numbers of observed candidate events are compatible with the standard model expectations. Limits are set on the cross section of new phenomena in two scenarios: the production of ν[over ˜]_{τ} in R-parity-violating supersymmetric models and the production of a lepton-flavor-violating Z^{'} vector boson.
- Publikační typ
- časopisecké články MeSH
The production of a [Formula: see text] boson in association with a [Formula: see text] meson in proton-proton collisions probes the production mechanisms of quarkonium and heavy flavour in association with vector bosons, and allows studies of multiple parton scattering. Using [Formula: see text] of data collected with the ATLAS experiment at the LHC in [Formula: see text] collisions at [Formula: see text], the first measurement of associated [Formula: see text] production is presented for both prompt and non-prompt [Formula: see text] production, with both signatures having a significance in excess of [Formula: see text]. The inclusive production cross-sections for [Formula: see text] boson production (analysed in [Formula: see text] or [Formula: see text] decay modes) in association with prompt and non-prompt [Formula: see text] are measured relative to the inclusive production rate of [Formula: see text] bosons in the same fiducial volume to be [Formula: see text] and [Formula: see text] respectively. Normalised differential production cross-section ratios are also determined as a function of the [Formula: see text] transverse momentum. The fraction of signal events arising from single and double parton scattering is estimated, and a lower limit of [Formula: see text] at [Formula: see text] confidence level is placed on the effective cross-section regulating double parton interactions.
- Publikační typ
- časopisecké články MeSH
A search for a charged Higgs boson, H(±), decaying to a W(±) boson and a Z boson is presented. The search is based on 20.3 fb(-1) of proton-proton collision data at a center-of-mass energy of 8 TeV recorded with the ATLAS detector at the LHC. The H(±) boson is assumed to be produced via vector-boson fusion and the decays W(±)→qq' and Z→e(+)e(-)/μ(+)μ(-) are considered. The search is performed in a range of charged Higgs boson masses from 200 to 1000 GeV. No evidence for the production of an H(±) boson is observed. Upper limits of 31-1020 fb at 95% C.L. are placed on the cross section for vector-boson fusion production of an H(±) boson times its branching fraction to W(±)Z. The limits are compared with predictions from the Georgi-Machacek Higgs triplet model.
- Publikační typ
- časopisecké články MeSH
Results of a search for new phenomena in events with large missing transverse momentum and a Higgs boson decaying to two photons are reported. Data from proton-proton collisions at a center-of-mass energy of 8 TeV and corresponding to an integrated luminosity of 20.3 fb^{-1} have been collected with the ATLAS detector at the LHC. The observed data are well described by the expected standard model backgrounds. Upper limits on the cross section of events with large missing transverse momentum and a Higgs boson candidate are also placed. Exclusion limits are presented for models of physics beyond the standard model featuring dark-matter candidates.
- Publikační typ
- časopisecké články MeSH
