Age at first birth in women is genetically associated with increased risk of schizophrenia

Prof. Paunio on PGC:n jäsenPrevious studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.Peer reviewe

Velocity-space sensitivity of the time-of-flight neutron spectrometer at JET

The velocity-space sensitivities of fast-ion diagnostics are often described by so-called weight functions. Recently, we formulated weight functions showing the velocity-space sensitivity of the often dominant beam-target part of neutron energy spectra. These weight functions for neutron emission spectrometry (NES) are independent of the particular NES diagnostic. Here we apply these NES weight functions to the time-of-flight spectrometer TOFOR at JET. By taking the instrumental response function of TOFOR into account, we calculate time-of-flight NES weight functions that enable us to directly determine the velocity-space sensitivity of a given part of a measured time-of-flight spectrum from TOFOR

Relationship of edge localized mode burst times with divertor flux loop signal phase in JET

A phase relationship is identified between sequential edge localized modes (ELMs) occurrence times in a set of H-mode tokamak plasmas to the voltage measured in full flux azimuthal loops in the divertor region. We focus on plasmas in the Joint European Torus where a steady H-mode is sustained over several seconds, during which ELMs are observed in the Be II emission at the divertor. The ELMs analysed arise from intrinsic ELMing, in that there is no deliberate intent to control the ELMing process by external means. We use ELM timings derived from the Be II signal to perform direct time domain analysis of the full flux loop VLD2 and VLD3 signals, which provide a high cadence global measurement proportional to the voltage induced by changes in poloidal magnetic flux. Specifically, we examine how the time interval between pairs of successive ELMs is linked to the time-evolving phase of the full flux loop signals. Each ELM produces a clear early pulse in the full flux loop signals, whose peak time is used to condition our analysis. The arrival time of the following ELM, relative to this pulse, is found to fall into one of two categories: (i) prompt ELMs, which are directly paced by the initial response seen in the flux loop signals; and (ii) all other ELMs, which occur after the initial response of the full flux loop signals has decayed in amplitude. The times at which ELMs in category (ii) occur, relative to the first ELM of the pair, are clustered at times when the instantaneous phase of the full flux loop signal is close to its value at the time of the first ELM

Linear scale-space

The formulation of afront-end orearly vision system is addressed, and its connection with scale-space is shown. A front-end vision system is designed to establish a convenient format of some sampled scalar field, which is suited for postprocessing by various dedicated routines. The emphasis is on the motivations and implications of symmetries of the environment; they pose natural, a priori constraints on the design of a front-end. The focus is on static images, defined on a multidimensional spatial domain, for which it is assumed that there are no a priori preferred points, directions, or scales. In addition, the front-end is required to be linear. These requirements are independent of any particular image geometry and express the front-end's pure syntactical, bottom up nature. It is shown that these symmetries suffice to establish the functionality properties of a front-end. For each location in the visual field and each inner scale it comprises a hierarchical family of tensorial apertures, known as the Gaussian family, the lowest order of which is the normalised Gaussian. The family can be truncated at any given order in a consistent way. The resulting set constitutes a basis for alocal jet bundle. Note that scale-space theory shows up here without any call upon the prohibition of spurious detail, which, in some way or another, usually forms the basic starting point for diffusion-like scale-space theories

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness1, affecting 0.9–4% of women and 0.3% of men2–4, with twin-based heritability estimates of 50–60%5. Mortality rates are higher than those in other psychiatric disorders6, and outcomes are unacceptably poor7. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)8,9 and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness1, affecting 0.9–4% of women and 0.3% of men2–4, with twin-based heritability estimates of 50–60%5. Mortality rates are higher than those in other psychiatric disorders6, and outcomes are unacceptably poor7. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)8,9 and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes

Impact of nitrogen seeding on confinement and power load control of a high-triangularity JET ELMy H-mode plasma with a metal wall

This paper reports the impact on confinement and power load of the high-shape 2.5MA ELMy H-mode scenario at JET of a change from an all carbon plasma facing components to an all metal wall. In preparation to this change, systematic studies of power load reduction and impact on confinement as a result of fuelling in combination with nitrogen seeding were carried out in JET-C and are compared to their counterpart in JET with a metallic wall. An unexpected and significant change is reported on the decrease of the pedestal confinement but is partially recovered with the injection of nitrogen.Comment: 30 pages, 16 figure

Was Phanerozoic reef history controlled by the distribution of non-enzymatically secreted reef carbonates (microbial carbonate and biologically induced cement)?

Throughout most of the Phanerozoic, reef rigidity resulted as much, or more, from early lithification by microbial carbonates and biologically induced cements (non-enzymatic carbonates) than from biological encrustation of, or by, large, enzymatically secreted metazoan skeletons. Reef framework is divided into four categories: (1) skeletal metazoan; (2) non-skeletal microbialite (stromatolite and thrombolite); (3) calcimicrobe; and (4) biocementstone, in which small or delicate organisms serve as scaffolds for rigid cement crusts. The last three categories are dominated by non-enzymatic carbonates. Skeletal framework and non-skeletal microbialite framework were the most abundant framework types through the Phanerozoic. The composition and abundance of skeletal framework was controlled largely by mass extinction events, but most reefs consisted of both microbialite and skeletal organisms in a mutually beneficial relationship. Microbialite framework was abundant throughout the Palaeozoic and early Mesozoic, but declined after the Jurassic. Calcimicrobe framework was important during the Cambrian-Early Ordovician and Devonian and biocementstone framework was important from the late Mississippian to the Late Triassic. The Phanerozoic history of reefs does not correlate well with the stratigraphic distribution of large, skeletal 'reef builders', or with a variety of physicochemical parameters, including sea-level history, Wilson Cycle or global climate cycles. Because non-enzymatic carbonates result from induction by non-obligate calcifiers, and not enzymatic precipitation by obligate calcifiers, the distribution of these carbonates was controlled to a larger extent by temporal changes in physicochemical parameters affecting the saturation state of sea water with respect to carbonate minerals. Changes in pCO, Ca/Mg ratios, cation concentrations and temperature may have affected the abundance of non-enzymatic carbonates and, hence, reefs, independently from the effects of these same parameters and mass extinction events on skeletal reef biota. The decline in abundance of reefal microbialite and absence of calcimicrobe and biocementstone reef framework after the Jurassic may be a result of relatively low saturation states of sea water owing to increased removal and sequestration of finite marine carbonate resources by calcareous plankton since the Jurassic. Reef history is difficult to correlate with temporal changes in specific global parameters because these parameters affect skeletal biota and biologically induced carbonate precipitation independently. Hence, reef history was regulated not just by skeletal reef biota, but by parameters governing non-enzymatic carbonates