| 1. |
- Ramdas, S., et al.
(författare)
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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
- 2022
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 109:8, s. 1366-1387
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Tidskriftsartikel (refereegranskat)abstract
- A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology.
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| 2. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
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| 4. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 5. |
- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 6. |
- Tran, K. B., et al.
(författare)
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The global burden of cancer attributable to risk factors, 2010-19: a systematic analysis for the Global Burden of Disease Study 2019
- 2022
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Ingår i: Lancet. - 0140-6736. ; 400:10352, s. 563-591
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Tidskriftsartikel (refereegranskat)abstract
- Background Understanding the magnitude of cancer burden attributable to potentially modifiable risk factors is crucial for development of effective prevention and mitigation strategies. We analysed results from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 to inform cancer control planning efforts globally. Methods The GBD 2019 comparative risk assessment framework was used to estimate cancer burden attributable to behavioural, environmental and occupational, and metabolic risk factors. A total of 82 risk-outcome pairs were included on the basis of the World Cancer Research Fund criteria. Estimated cancer deaths and disability-adjusted life-years (DALYs) in 2019 and change in these measures between 2010 and 2019 are presented. Findings Globally, in 2019, the risk factors included in this analysis accounted for 4.45 million (95% uncertainty interval 4.01-4.94) deaths and 105 million (95.0-116) DALYs for both sexes combined, representing 44.4% (41.3-48.4) of all cancer deaths and 42.0% (39.1-45.6) of all DALYs. There were 2.88 million (2.60-3.18) risk-attributable cancer deaths in males (50.6% [47.8-54.1] of all male cancer deaths) and 1.58 million (1.36-1.84) risk-attributable cancer deaths in females (36.3% [32.5-41.3] of all female cancer deaths). The leading risk factors at the most detailed level globally for risk-attributable cancer deaths and DALYs in 2019 for both sexes combined were smoking, followed by alcohol use and high BMI. Risk-attributable cancer burden varied by world region and Socio-demographic Index (SDI), with smoking, unsafe sex, and alcohol use being the three leading risk factors for risk-attributable cancer DALYs in low SDI locations in 2019, whereas DALYs in high SDI locations mirrored the top three global risk factor rankings. From 2010 to 2019, global risk-attributable cancer deaths increased by 20.4% (12.6-28.4) and DALYs by 16.8% (8.8-25.0), with the greatest percentage increase in metabolic risks (34.7% [27.9-42.8] and 33.3% [25.8-42.0]). Interpretation The leading risk factors contributing to global cancer burden in 2019 were behavioural, whereas metabolic risk factors saw the largest increases between 2010 and 2019. Reducing exposure to these modifiable risk factors would decrease cancer mortality and DALY rates worldwide, and policies should be tailored appropriately to local cancer risk factor burden. Copyright (C) 2022 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.
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| 16. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 17. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 18. |
- Abbas, E., et al.
(författare)
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Mid-rapidity anti-baryon to baryon ratios in pp collisions at root s=0.9, 2.76 and 7 TeV measured by ALICE
- 2013
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 73:7
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Tidskriftsartikel (refereegranskat)abstract
- The ratios of yields of anti-baryons to baryons probes the mechanisms of baryon-number transport. Results for (p) over bar /p, (Lambda) over bar/Lambda, (Xi) over bar (+)/(Xi) over bar (-) and (Omega) over bar (+)/(Omega) over bar (-) in pp collisions at root s = 0.9, 2.76 and 7 TeV, measured with the ALICE detector at the LHC, are reported. Within the experimental uncertainties and ranges covered by our measurement, these ratios are independent of rapidity, transverse momentum and multiplicity for all measured energies. The results are compared to expectations from event generators, such as PYTHIA and HIJING/B, that are used to model the particle production in pp collisions. The energy dependence of (p) over bar /p, (Lambda) over bar/(Lambda) over bar, (Xi) over bar (+)/(Xi) over bar (-) and (Omega) over bar (+)/(Omega) over bar (-), reaching values compatible with unity for root s = 7 TeV, complement the earlier (p) over bar /p measurement of ALICE. These dependencies can be described by exchanges with the Regge-trajectory intercept of alpha(J) approximate to 0.5, which are suppressed with increasing rapidity interval Delta y. Any significant contribution of an exchange not suppressed at large Delta y (reached at LHC energies) is disfavoured.
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| 19. |
- Vos, T., et al.
(författare)
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Global, regional, and national incidence, prevalence, and years lived with disability for 328 diseases and injuries for 195 countries, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016
- 2017
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Ingår i: Lancet. - : Elsevier. - 0140-6736 .- 1474-547X. ; 390:10100, s. 1211-1259
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Tidskriftsartikel (refereegranskat)abstract
- Background As mortality rates decline, life expectancy increases, and populations age, non-fatal outcomes of diseases and injuries are becoming a larger component of the global burden of disease. The Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) provides a comprehensive assessment of prevalence, incidence, and years lived with disability (YLDs) for 328 causes in 195 countries and territories from 1990 to 2016. Methods We estimated prevalence and incidence for 328 diseases and injuries and 2982 sequelae, their non-fatal consequences. We used DisMod-MR 2.1, a Bayesian meta-regression tool, as the main method of estimation, ensuring consistency between incidence, prevalence, remission, and cause of death rates for each condition. For some causes, we used alternative modelling strategies if incidence or prevalence needed to be derived from other data. YLDs were estimated as the product of prevalence and a disability weight for all mutually exclusive sequelae, corrected for comorbidity and aggregated to cause level. We updated the Socio-demographic Index (SDI), a summary indicator of income per capita, years of schooling, and total fertility rate. GBD 2016 complies with the Guidelines for Accurate and Transparent Health Estimates Reporting (GATHER). Findings Globally, low back pain, migraine, age-related and other hearing loss, iron-deficiency anaemia, and major depressive disorder were the five leading causes of YLDs in 2016, contributing 57.6 million (95% uncertainty interval [UI] 40.8-75.9 million [7.2%, 6.0-8.3]), 45.1 million (29.0-62.8 million [5.6%, 4.0-7.2]), 36.3 million (25.3-50.9 million [4.5%, 3.8-5.3]), 34.7 million (23.0-49.6 million [4.3%, 3.5-5.2]), and 34.1 million (23.5-46.0 million [4.2%, 3.2-5.3]) of total YLDs, respectively. Age-standardised rates of YLDs for all causes combined decreased between 1990 and 2016 by 2.7% (95% UI 2.3-3.1). Despite mostly stagnant age-standardised rates, the absolute number of YLDs from non-communicable diseases has been growing rapidly across all SDI quintiles, partly because of population growth, but also the ageing of populations. The largest absolute increases in total numbers of YLDs globally were between the ages of 40 and 69 years. Age-standardised YLD rates for all conditions combined were 10.4% (95% UI 9.0-11.8) higher in women than in men. Iron-deficiency anaemia, migraine, Alzheimer's disease and other dementias, major depressive disorder, anxiety, and all musculoskeletal disorders apart from gout were the main conditions contributing to higher YLD rates in women. Men had higher age-standardised rates of substance use disorders, diabetes, cardiovascular diseases, cancers, and all injuries apart from sexual violence. Globally, we noted much less geographical variation in disability than has been documented for premature mortality. In 2016, there was a less than two times difference in age-standardised YLD rates for all causes between the location with the lowest rate (China, 9201 YLDs per 100 000, 95% UI 6862-11943) and highest rate (Yemen, 14 774 YLDs per 100 000, 11 018-19 228). Interpretation The decrease in death rates since 1990 for most causes has not been matched by a similar decline in age-standardised YLD rates. For many large causes, YLD rates have either been stagnant or have increased for some causes, such as diabetes. As populations are ageing, and the prevalence of disabling disease generally increases steeply with age, health systems will face increasing demand for services that are generally costlier than the interventions that have led to declines in mortality in childhood or for the major causes of mortality in adults. Up-todate information about the trends of disease and how this varies between countries is essential to plan for an adequate health-system response. Copyright (C) The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.
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| 20. |
- Abbas, E., et al.
(författare)
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Centrality dependence of the pseudorapidity density distribution for charged particles in Pb-Pb collisions at root s(NN)=2.76 TeV
- 2013
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 726:4-5, s. 610-622
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Tidskriftsartikel (refereegranskat)abstract
- We present the first wide-range measurement of the charged-particle pseudorapidity density distribution, for different centralities (the 0-5%, 5-10%, 10-20%, and 20-30% most central events) in Pb-Pb collisions at root s(NN) = 2.76 TeV at the LHC. The measurement is performed using the full coverage of the ALICE detectors, -5.0 < eta < 5.5, and employing a special analysis technique based on collisions arising from LHC 'satellite' bunches. We present the pseudorapidity density as a function of the number of participating nucleons as well as an extrapolation to the total number of produced charged particles (N-ch = 17165 +/- 772 for the 0-5% most central collisions). From the measured dN(ch)/d eta distribution we derive the rapidity density distribution, dN(ch)/dy, under simple assumptions. The rapidity density distribution is found to be significantly wider than the predictions of the Landau model. We assess the validity of longitudinal scaling by comparing to lower energy results from RHIC. Finally the mechanisms of the underlying particle production are discussed based on a comparison with various theoretical models. (C) 2013 CERN. Published by Elsevier B.V. All rights reserved.
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| 21. |
- Abbas, E., et al.
(författare)
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Charmonium and e(+)e(-) pair photoproduction at mid-rapidity in ultra-peripheral Pb-Pb collisions at root s(NN)=2.76 TeV
- 2013
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 73:11
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Tidskriftsartikel (refereegranskat)abstract
- The ALICE Collaboration at the LHC has measured the J/psi and psi' photoproduction at mid-rapidity in ultra-peripheral Pb-Pb collisions at root s(NN) = 2.76 TeV. The charmonium is identified via its leptonic decay for events where the hadronic activity is required to be minimal. The analysis is based on an event sample corresponding to an integrated luminosity of about 23 mu b(-1). The cross section for coherent and incoherent J/psi production in the rapidity interval -0.9 < y < 0.9, are d sigma(coh)(J/psi)/dy = 2.38(-0.24)(+0.34)(sta + sys) mb and d sigma(inc)(J/psi)/dy = 0.98(-0.17)(+0.19)(sta + sys) mb and , respectively. The results are compared to theoretical models for J/psi production and the coherent cross section is found to be in good agreement with those models incorporating moderate nuclear gluon shadowing at Bjorken-x around 10(-3), such as EPS09 parametrization. In addition the cross section for the process gamma gamma -> e(+)e(-) has been measured and found to be in agreement with models implementing QED at leading order.
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| 22. |
- Abbas, E., et al.
(författare)
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J/psi Elliptic Flow in Pb-Pb Collisions at root s(NN)=2.76 TeV
- 2013
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Ingår i: Physical Review Letters. - 1079-7114. ; 111:16
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Tidskriftsartikel (refereegranskat)abstract
- We report on the first measurement of inclusive J/psi elliptic flow v(2) in heavy-ion collisions at the LHC. The measurement is performed with the ALICE detector in Pb-Pb collisions at root s(NN) = 2.76 TeV in the rapidity range 2.5 < y < 4.0. The dependence of the J/psi v(2) on the collision centrality and on the J/psi transverse momentum is studied in the range 0 <= p(T) < 10 GeV/c. For semicentral Pb-Pb collisions at root s(NN) = 2.76 TeV, an indication of nonzero v(2) is observed with a largest measured value of v(2) = 0.116 +/-0.046(stat) +/- 0.029(syst) for J/psi in the transverse momentum range 2 <= p(T) < 4 GeV/c. The elliptic flow measurement complements the previously reported ALICE results on the inclusive J/psi nuclear modification factor and favors the scenario of a significant fraction of J/psi production from charm quarks in a deconfined partonic phase.
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| 23. |
- Abbas, E., et al.
(författare)
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Performance of the ALICE VZERO system
- 2013
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- ALICE is an LHC experiment devoted to the study of strongly interacting matter in proton-proton, proton-nucleus and nucleus-nucleus collisions at ultra-relativistic energies. The ALICE VZERO system, made of two scintillator arrays at asymmetric positions, one on each side of the interaction point, plays a central role in ALICE. In addition to its core function as a trigger source, the VZERO system is used to monitor LHC beam conditions, to reject beam-induced backgrounds and to measure basic physics quantities such as luminosity, particle multiplicity, centrality and event plane direction in nucleus-nucleus collisions. After describing the VZERO system, this publication presents its performance over more than four years of operation at the LHC.
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