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A catalog of genetic loci associated with kidney function from analyses of a million individuals
(2019)
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
The origin of Galactic cosmic rays is a century-long puzzle. Indirect evidence points to their acceleration by supernova shockwaves, but we know little of their escape from the shock and their evolution through the turbulent medium surrounding massive stars. Gamma rays can probe their spreading through the ambient gas and radiation fields. The Fermi Large Area Telescope (LAT) has observed the star-forming region of Cygnus X. The 1- to 100-gigaelectronvolt images reveal a 50-parsec-wide cocoon of freshly accelerated cosmic rays that flood the cavities carved by the stellar winds and ionization fronts from young stellar clusters. It provides an example to study the youth of cosmic rays in a superbubble environment before they merge into the older Galactic population.
A novel common variant in DCST2 is associated with length in early life and height in adulthood
(2015)
Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 x 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; beta = 0.046, SE = 0.008, P = 2.46 x 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 x 10(-4)) and adult height (N = 127 513; P = 1.45 x 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.
A search for enhanced very high energy GAMMA-RAY emission from the 2013 march crab nebula flare
(2014)
In 2013 March, a flaring episode from the Crab Nebula lasting similar to 2 weeks was detected by Fermi-LAT (Large Area Telescope on board the Fermi Gamma-ray Space Telescope). The Very Energetic Radiation Imaging Telescope Array System (VERITAS) provides simultaneous observations throughout this period. During the flare, Fermi-LAT detected a 20 fold increase in flux above the average synchrotron flux >100 MeV seen from the Crab Nebula. Simultaneous measurements with VERITAS are consistent with the non-variable long-term average Crab Nebula flux at TeV energies. Assuming a linear correlation between the very high energy flux change >1 TeV and the flux change seen in the Fermi-LAT band >100 MeV during the period of simultaneous observations, the linear correlation factor can be constrained to be at most 8.6 x 10(-3) with 95% confidence.
We present the results of 71.6 hr of observations of the Geminga pulsar (PSR J0633+1746) with the VERITAS very-high-energy gamma-ray telescope array. Data taken with VERITAS between 2007 November and 2013 February were phase-folded using a Geminga pulsar timing solution derived from data recorded by the XMM-Newton and Fermi-LAT space telescopes. No significant pulsed emission above 100 GeV is observed, and we report upper limits at the 95% confidence level on the integral flux above 135 GeV (spectral analysis threshold) of 4.0x10(-13) s(-1) cm(-2) and 1.7 x 10(-13) s(-1) cm(-2) for the two principal peaks in the emission profile. These upper limits, placed in context with phase-resolved spectral energy distributions determined from 5 yr of data from the Fermi-Large Area Telescope (LAT), constrain possible hardening of the Geminga pulsar emission spectra above similar to 50 GeV.
A SEARCH FOR VERY HIGH ENERGY GAMMA RAYS FROM THE MISSING LINK BINARY PULSAR J1023+0038 WITH VERITAS
(2016)
The binary millisecond radio pulsar PSR J1023+0038 exhibits many characteristics similar to the gamma-ray binary system PSR B1259-63/LS 2883, making it an ideal candidate for the study of high-energy nonthermal emission. It has been the subject of multiwavelength campaigns following the disappearance of the pulsed radio emission in 2013 June, which revealed the appearance of an accretion disk around the neutron star. We present the results of very high energy (VHE) gamma-ray observations carried out by the Very Energetic Radiation Imaging Telescope Array System before and after this change of state. Searches for steady and pulsed emission of both data sets yield no significant gamma-ray signal above 100 GeV, and upper limits are given for both a steady and pulsed gamma-ray flux. These upper limits are used to constrain the magnetic field strength in the shock region of the PSR J1023+0038 system. Assuming that VHE gamma rays are produced via an inverse Compton mechanism in the shock region, we constrain the shock magnetic field to be greater than similar to 2 G before the disappearance of the radio pulsar and greater than similar to 10 G afterward.
The Great Nebula in Carina provides an exceptional view into the violent massive star formation and feedback that typifies giant H II regions and starburst galaxies. We have mapped the Carina star-forming complex in X-rays, using archival Chandra data and a mosaic of 20 new 60 ks pointings using the Chandra X-ray Observatory's Advanced CCD Imaging Spectrometer, as a testbed for understanding recent and ongoing star formation and to probe Carina's regions of bright diffuse X-ray emission. This study has yielded a catalog of properties of > 14,000 X-ray point sources;> 9800 of them have multiwavelength counterparts. Using Chandra's unsurpassed X-ray spatial resolution, we have separated these point sources from the extensive, spatially-complex diffuse emission that pervades the region; X-ray properties of this diffuse emission suggest that it traces feedback from Carina's massive stars. In this introductory paper, we motivate the survey design, describe the Chandra observations, and present some simple results, providing a foundation for the 15 papers that follow in this special issue and that present detailed catalogs, methods, and science results.
Food system innovations will be instrumental to achieving multiple Sustainable Development Goals (SDGs). However, major innovation breakthroughs can trigger profound and disruptive changes, leading to simultaneous and interlinked reconfigurations of multiple parts of the global food system. The emergence of new technologies or social solutions, therefore, have very different impact profiles, with favourable consequences for some SDGs and unintended adverse side-effects for others. Stand-alone innovations seldom achieve positive outcomes over multiple sustainability dimensions. Instead, they should be embedded as part of systemic changes that facilitate the implementation of the SDGs. Emerging trade-offs need to be intentionally addressed to achieve true sustainability, particularly those involving social aspects like inequality in its many forms, social justice, and strong institutions, which remain challenging. Trade-offs with undesirable consequences are manageable through the development of well planned transition pathways, careful monitoring of key indicators, and through the implementation of transparent science targets at the local level.
Beyond technology
(2022)
This article enriches the existing literature on the importance and role of the social sciences and humanities (SSH) in renewable energy sources research by providing a novel approach to instigating the future research agenda in this field. Employing a series of in-depth interviews, deliberative focus group workshops and a systematic horizon scanning process, which utilised the expert knowledge of 85 researchers from the field with diverse disciplinary backgrounds and expertise, the paper develops a set of 100 priority questions for future research within SSH scholarship on renewable energy sources. These questions were aggregated into four main directions: (i) deep transformations and connections to the broader economic system (i.e. radical ways of (re)arranging socio-technical, political and economic relations), (ii) cultural and geographical diversity (i.e. contextual cultural, historical, political and socio-economic factors influencing citizen support for energy transitions), (iii) complexifying energy governance (i.e. understanding energy systems from a systems dynamics perspective) and (iv) shifting from instrumental acceptance to value-based objectives (i.e. public support for energy transitions as a normative notion linked to trust-building and citizen engagement). While this agenda is not intended to be—and cannot be—exhaustive or exclusive, we argue that it advances the understanding of SSH research on renewable energy sources and may have important value in the prioritisation of SSH themes needed to enrich dialogues between policymakers, funding institutions and researchers. SSH scholarship should not be treated as instrumental to other research on renewable energy but as intrinsic and of the same hierarchical importance.