52 research outputs found
Is the evidence for dark energy secure?
Several kinds of astronomical observations, interpreted in the framework of
the standard Friedmann-Robertson-Walker cosmology, have indicated that our
universe is dominated by a Cosmological Constant. The dimming of distant Type
Ia supernovae suggests that the expansion rate is accelerating, as if driven by
vacuum energy, and this has been indirectly substantiated through studies of
angular anisotropies in the cosmic microwave background (CMB) and of spatial
correlations in the large-scale structure (LSS) of galaxies. However there is
no compelling direct evidence yet for (the dynamical effects of) dark energy.
The precision CMB data can be equally well fitted without dark energy if the
spectrum of primordial density fluctuations is not quite scale-free and if the
Hubble constant is lower globally than its locally measured value. The LSS data
can also be satisfactorily fitted if there is a small component of hot dark
matter, as would be provided by neutrinos of mass 0.5 eV. Although such an
Einstein-de Sitter model cannot explain the SNe Ia Hubble diagram or the
position of the `baryon acoustic oscillation' peak in the autocorrelation
function of galaxies, it may be possible to do so e.g. in an inhomogeneous
Lemaitre-Tolman-Bondi cosmology where we are located in a void which is
expanding faster than the average. Such alternatives may seem contrived but
this must be weighed against our lack of any fundamental understanding of the
inferred tiny energy scale of the dark energy. It may well be an artifact of an
oversimplified cosmological model, rather than having physical reality.Comment: 12 pages, 5 figures; to appear in a special issue of General
Relativity and Gravitation, eds. G.F.R. Ellis et al; Changes: references
reformatted in journal style - text unchange
Rare and Common Variants Conferring Risk of Tooth Agenesis
We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach
Updated Nucleosynthesis Constraints on Unstable Relic Particles
We revisit the upper limits on the abundance of unstable massive relic
particles provided by the success of Big-Bang Nucleosynthesis calculations. We
use the cosmic microwave background data to constrain the baryon-to-photon
ratio, and incorporate an extensively updated compilation of cross sections
into a new calculation of the network of reactions induced by electromagnetic
showers that create and destroy the light elements deuterium, he3, he4, li6 and
li7. We derive analytic approximations that complement and check the full
numerical calculations. Considerations of the abundances of he4 and li6 exclude
exceptional regions of parameter space that would otherwise have been permitted
by deuterium alone. We illustrate our results by applying them to massive
gravitinos. If they weigh ~100 GeV, their primordial abundance should have been
below about 10^{-13} of the total entropy. This would imply an upper limit on
the reheating temperature of a few times 10^7 GeV, which could be a potential
difficulty for some models of inflation. We discuss possible ways of evading
this problem.Comment: 40 pages LaTeX, 18 eps figure
Body appreciation around the world: Measurement invariance of the Body Appreciation Scale-2 (BAS-2) across 65 nations, 40 languages, gender identities, and age.
The Body Appreciation Scale-2 (BAS-2) is a widely used measure of a core facet of the positive body image construct. However, extant research concerning measurement invariance of the BAS-2 across a large number of nations remains limited. Here, we utilised the Body Image in Nature (BINS) dataset - with data collected between 2020 and 2022 - to assess measurement invariance of the BAS-2 across 65 nations, 40 languages, gender identities, and age groups. Multi-group confirmatory factor analysis indicated that full scalar invariance was upheld across all nations, languages, gender identities, and age groups, suggesting that the unidimensional BAS-2 model has widespread applicability. There were large differences across nations and languages in latent body appreciation, while differences across gender identities and age groups were negligible-to-small. Additionally, greater body appreciation was significantly associated with higher life satisfaction, being single (versus being married or in a committed relationship), and greater rurality (versus urbanicity). Across a subset of nations where nation-level data were available, greater body appreciation was also significantly associated with greater cultural distance from the United States and greater relative income inequality. These findings suggest that the BAS-2 likely captures a near-universal conceptualisation of the body appreciation construct, which should facilitate further cross-cultural research. [Abstract copyright: Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.
Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture
The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape : A Large-Scale Genome-Wide Interaction Study
Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age-and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to similar to 2.8M SNPs with BMI and WHRadjBMI in four strata (men 50y, women 50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR= 50y). No sex-dependent effects were identified for BMI. For WHRadjBMI, we identified 44 loci (27 previously established for main effects, 17 novel) with sex-specific effects, of which 28 showed larger effects in women than in men, five showed larger effects in men than in women, and 11 showed opposite effects between sexes. No age-dependent effects were identified for WHRadjBMI. This is the first genome-wide interaction meta-analysis to report convincing evidence of age-dependent genetic effects on BMI. In addition, we confirm the sex-specificity of genetic effects on WHRadjBMI. These results may providefurther insights into the biology that underlies weight change with age or the sexually dimorphism of body shape.Peer reviewe
Countering imbalanced datasets to improve adverse drug event predictive models in labor and delivery
Chondroitin 6-sulphate synthesis is up-regulated in injured CNS, induced by injury-related cytokines and enhanced in axon-growth inhibitory glia.
Chondroitin sulphate proteoglycans (CSPGs) are up-regulated in the CNS after injury and inhibit axon regeneration mainly through their glycosaminoglycan (CS-GAG) chains. We have analysed the mRNA levels of the CS-GAG synthesizing enzymes and measured the CS-GAG disaccharide composition by chromatography and immunocytochemistry. Chondroitin 6-sulfotransferase 1 (C6ST1) is up-regulated in most glial types around cortical injuries, and its sulphated product CS-C is also selectively up-regulated. Treatment with TGFalpha and TGFbeta, which are released after brain injury, promotes the expression of C6ST1 and the synthesis of 6-sulphated CS-GAGs in primary astrocytes. Oligodendrocytes, oligodendrocyte precursors and meningeal cells are all inhibitory to axon regeneration, and all express high levels of CS-GAG, including high levels of 6-sulphated GAG. In axon growth-inhibitory Neu7 astrocytes C6ST1 and 6-sulphated GAGs are expressed at high levels, whereas in permissive A7 astrocytes they are not detectable. These results suggest that the up-regulation of CSPG after CNS injury is associated with a specific sulphation pattern on CS-GAGs, mediating the inhibitory properties of proteoglycans on axonal regeneration
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