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Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length
(2020)
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
We report on both high-precision photometry from the Microvariability and Oscillations of Stars (MOST) space telescope and ground-based spectroscopy of the triple system delta Ori A, consisting of a binary O9.5II+early-B (Aa1 and Aa2) with P = 5.7 days, and a more distant tertiary (O9 IV P > 400 years). This data was collected in concert with X-ray spectroscopy from the Chandra X-ray Observatory. Thanks to continuous coverage for three weeks, the MOST light curve reveals clear eclipses between Aa1 and Aa2 for the first time in non-phased data. From the spectroscopy, we have a well-constrained radial velocity (RV) curve of Aa1. While we are unable to recover RV variations of the secondary star, we are able to constrain several fundamental parameters of this system and determine an approximate mass of the primary using apsidal motion. We also detected second order modulations at 12 separate frequencies with spacings indicative of tidally influenced oscillations. These spacings have never been seen in a massive binary, making this system one of only a handful of such binaries that show evidence for tidally induced pulsations.
The largest uncertainty in projections of future sea-level change results from the potentially changing dynamical ice discharge from Antarctica. Basal ice-shelf melting induced by a warming ocean has been identified as a major cause for additional ice flow across the grounding line. Here we attempt to estimate the uncertainty range of future ice discharge from Antarctica by combining uncertainty in the climatic forcing, the oceanic response and the ice-sheet model response. The uncertainty in the global mean temperature increase is obtained from historically constrained emulations with the MAGICC-6.0 (Model for the Assessment of Greenhouse gas Induced Climate Change) model. The oceanic forcing is derived from scaling of the subsurface with the atmospheric warming from 19 comprehensive climate models of the Coupled Model Intercomparison Project (CMIP-5) and two ocean models from the EU-project Ice2Sea. The dynamic ice-sheet response is derived from linear response functions for basal ice-shelf melting for four different Antarctic drainage regions using experiments from the Sea-level Response to Ice Sheet Evolution (SeaRISE) intercomparison project with five different Antarctic ice-sheet models. The resulting uncertainty range for the historic Antarctic contribution to global sea-level rise from 1992 to 2011 agrees with the observed contribution for this period if we use the three ice-sheet models with an explicit representation of ice-shelf dynamics and account for the time-delayed warming of the oceanic subsurface compared to the surface air temperature. The median of the additional ice loss for the 21st century is computed to 0.07 m (66% range: 0.02-0.14 m; 90% range: 0.0-0.23 m) of global sea-level equivalent for the low-emission RCP-2.6 (Representative Concentration Pathway) scenario and 0.09 m (66% range: 0.04-0.21 m; 90% range: 0.01-0.37 m) for the strongest RCP-8.5. Assuming no time delay between the atmospheric warming and the oceanic subsurface, these values increase to 0.09 m (66% range: 0.04-0.17 m; 90% range: 0.02-0.25 m) for RCP-2.6 and 0.15 m (66% range: 0.07-0.28 m; 90% range: 0.04-0.43 m) for RCP-8.5. All probability distributions are highly skewed towards high values. The applied ice-sheet models are coarse resolution with limitations in the representation of grounding-line motion. Within the constraints of the applied methods, the uncertainty induced from different ice-sheet models is smaller than that induced by the external forcing to the ice sheets.
Background/objective: Negative emotional states, such as depression, anxiety, and stress challenge health care due to their long-term consequences for mental disorders. Accumulating evidence indicates that regular physical activity (PA) can positively influence negative emotional states. Among possible candidates, resilience and exercise tolerance in particular have the potential to partly explain the positive effects of PA on negative emotional states. Thus, the aim of this study was to investigate the association between PA and negative emotional states, and further determine the mediating effects of exercise tolerance and resilience in such a relationship. Method: In total, 1117 Chinese college students (50.4% female, Mage=18.90, SD=1.25) completed a psychosocial battery, including the 21-item Depression Anxiety Stress Scale (DASS-21), the Connor-Davidson Resilience Scale (CD-RISC), the Preference for and Tolerance of the Intensity of Exercise Questionnaire (PRETIE-Q), and the International Physical Activity Questionnaire short form (IPAQ-SF). Regression analysis was used to identify the serial multiple mediation, controlling for gender, age and BMI. Results: PA, exercise intensity-tolerance, and resilience were significantly negatively correlated with negative emotional states (Ps<.05). Further, exercise tolerance and resilience partially mediated the relationship between PA and negative emotional states. Conclusions: Resilience and exercise intensity-tolerance can be achieved through regularly engaging in PA, and these newly observed variables play critical roles in prevention of mental illnesses, especially college students who face various challenges. Recommended amount of PA should be incorporated into curriculum or sport clubs within a campus environment.
Recently, there has been an upsurge of activity in image-based non-photorealistic rendering (NPR), and in particular portrait image stylisation, due to the advent of neural style transfer (NST). However, the state of performance evaluation in this field is poor, especially compared to the norms in the computer vision and machine learning communities. Unfortunately, the task of evaluating image stylisation is thus far not well defined, since it involves subjective, perceptual, and aesthetic aspects. To make progress towards a solution, this paper proposes a new structured, three-level, benchmark dataset for the evaluation of stylised portrait images. Rigorous criteria were used for its construction, and its consistency was validated by user studies. Moreover, a new methodology has been developed for evaluating portrait stylisation algorithms, which makes use of the different benchmark levels as well as annotations provided by user studies regarding the characteristics of the faces. We perform evaluation for a wide variety of image stylisation methods (both portrait-specific and general purpose, and also both traditional NPR approaches and NST) using the new benchmark dataset.