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Reproducibility is a defining feature of science, but the extent to which it characterizes current research is unknown. We conducted replications of 100 experimental and correlational studies published in three psychology journals using high-powered designs and original materials when available. Replication effects were half the magnitude of original effects, representing a substantial decline. Ninety-seven percent of original studies had statistically significant results. Thirty-six percent of replications had statistically significant results; 47% of original effect sizes were in the 95% confidence interval of the replication effect size; 39% of effects were subjectively rated to have replicated the original result; and if no bias in original results is assumed, combining original and replication results left 68% with statistically significant effects. Correlational tests suggest that replication success was better predicted by the strength of original evidence than by characteristics of the original and replication teams.
Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Myriapods (e. g., centipedes and millipedes) display a simple homonomous body plan relative to other arthropods. All members of the class are terrestrial, but they attained terrestriality independently of insects. Myriapoda is the only arthropod class not represented by a sequenced genome. We present an analysis of the genome of the centipede Strigamia maritima. It retains a compact genome that has undergone less gene loss and shuffling than previously sequenced arthropods, and many orthologues of genes conserved from the bilaterian ancestor that have been lost in insects. Our analysis locates many genes in conserved macro-synteny contexts, and many small-scale examples of gene clustering. We describe several examples where S. maritima shows different solutions from insects to similar problems. The insect olfactory receptor gene family is absent from S. maritima, and olfaction in air is likely effected by expansion of other receptor gene families. For some genes S. maritima has evolved paralogues to generate coding sequence diversity, where insects use alternate splicing. This is most striking for the Dscam gene, which in Drosophila generates more than 100,000 alternate splice forms, but in S. maritima is encoded by over 100 paralogues. We see an intriguing linkage between the absence of any known photosensory proteins in a blind organism and the additional absence of canonical circadian clock genes. The phylogenetic position of myriapods allows us to identify where in arthropod phylogeny several particular molecular mechanisms and traits emerged. For example, we conclude that juvenile hormone signalling evolved with the emergence of the exoskeleton in the arthropods and that RR-1 containing cuticle proteins evolved in the lineage leading to Mandibulata. We also identify when various gene expansions and losses occurred. The genome of S. maritima offers us a unique glimpse into the ancestral arthropod genome, while also displaying many adaptations to its specific life history.
We combine data from the Spitzer Survey for Stellar Structure in Galaxies, a recently calibrated empirical stellar mass estimator from Eskew et al., and an extensive database of Hi spectral line profiles to examine the baryonic Tully-Fisher (BTF) relation. We find (1) that the BTF has lower scatter than the classic Tully-Fisher (TF) relation and is better described as a linear relationship, confirming similar previous results, (2) that the inclusion of a radial scale in the BTF decreases the scatter but only modestly, as seen previously for the TF relation, and (3) that the slope of the BTF, which we find to be 3.5 +/- 0.2 (Delta log M-baryon/Delta log v(c)), implies that on average a nearly constant fraction (similar to 0.4) of all baryons expected to be in a halo are "condensed" onto the central region of rotationally supported galaxies. The condensed baryon fraction, M-baryon/M-total, is, to our measurement precision, nearly independent of galaxy circular velocity (our sample spans circular velocities, vc, between 60 and 250 km s(-1), but is extended to v(c) similar to 10 km s(-1) using data from the literature). The observed galaxy-to-galaxy scatter in this fraction is generally <= a factor of 2 despite fairly liberal selection criteria. These results imply that cooling and heating processes, such as cold versus hot accretion, mass loss due to stellar winds, and active galactic nucleus driven feedback, to the degree that they affect the global galactic properties involved in the BTF, are independent of halo mass for galaxies with 10 < v(c) < 250 km s(-1) and typically introduce no more than a factor of two range in the resulting M-baryon/M-total. Recent simulations by Aumer et al. of a small sample of disk galaxies are in excellent agreement with our data, suggesting that current simulations are capable of reproducing the global properties of individual disk galaxies. More detailed comparison to models using the BTF holds great promise, but awaits improved determinations of the stellar masses.
We have measured the temperature dependence of the direct band gap Eg in SrTiO3 and BaTiO3 and related materials with quantum-paraelectric and ferroelectric properties using optical spectroscopy. We show that Eg exhibits an anomalous temperature dependence with pronounced changes in the vicinity of the ferroelectric transition that can be accounted for in terms of the Frohlich electron-phonon interaction with an optical phonon mode, the so-called soft mode. In addition, we demonstrate that these characteristic changes of Eg can be readily detected even in very thin films of SrTiO3 with a strain-induced ferroelectric order. Optical spectroscopy thus can be used as a rather sensitive probe of ferroelectric order in very thin films of these titanates and probably also in subsequent multilayers and devices.
Fetuin-A, a hepatic-origin protein, is strongly positively associated with risk of type 2 diabetes in human observational studies, but it is unknown whether this association is causal. Weaimed to study the potential causal relation of circulating fetuin-A to risk of type 2 diabetes in a Mendelian randomization study with single nucleotide polymorphisms located in the fetuin-A-encoding AHSG gene. We used data from eight European countries of the European Prospective Investigation into Cancer and Nutrition (EPIC)-InterAct case-cohort study including 10,020 incident cases. Plasma fetuin-A concentration was measured in a subset of 965 subcohort participants and 654 case subjects. A genetic score of the AHSG single nucleotide polymorphisms was strongly associated with fetuin-A (28% explained variation). Using the genetic score as instrumental variable of fetuin-A, we observed no significant association of a 50 mu g/mL higher fetuin-A concentration with diabetes risk (hazard ratio 1.02 [95% CI 0.97, 1.07]). Combining our results with those from the DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) consortium (12,171 case subjects) also did not suggest a clear significant relation of fetuin-A with diabetes risk. In conclusion, although there is mechanistic evidence for an effect of fetuin-A on insulin sensitivity and secretion, this study does not support a strong, relevant relationship between circulating fetuin-A and diabetes risk in the general population.