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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.
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.
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
Based on data from the ESA Gaia Data Release 2 (DR2) and several ground-based, multi-band photometry surveys we have compiled an all-sky catalogue of 39 800 hot subluminous star candidates selected in Gaia DR2 by means of colour, absolute magnitude, and reduced proper motion cuts. We expect the majority of the candidates to be hot subdwarf stars of spectral type B and O, followed by blue horizontal branch stars of late B-type (HBB), hot post-AGB stars, and central stars of planetary nebulae. The contamination by cooler stars should be about 10%. The catalogue is magnitude limited to Gaia G < 19 mag and covers the whole sky. Except within the Galactic plane and LMC/SMC regions, we expect the catalogue to be almost complete up to about 1.5 kpc. The main purpose of this catalogue is to serve as input target list for the large-scale photometric and spectroscopic surveys which are ongoing or scheduled to start in the coming years. In the long run, securing a statistically significant sample of spectroscopically confirmed hot subluminous stars is key to advance towards a more detailed understanding of the latest stages of stellar evolution for single and binary stars.
We analysed recent K2 data of the short-period eclipsing binary system HW Vir, which consists of a hot subdwarf-B type primary with an M-dwarf companion. We determined the mid-times of eclipses, calculated O-C diagrams, and an average shift of the secondary minimum. Our results show that the orbital period is stable within the errors over the course of the 70 days of observations. Interestingly, the offset from mid-orbital phase between the primary and the secondary eclipses is found to be 1.62 s. If the shift is explained solely by light-travel time, the mass of the sdB primary must be 0.26 M-circle dot, which is too low for the star to be core-helium burning. However, we argue that this result is unlikely to be correct and that a number of effects caused by the relative sizes of the stars conspire to reduce the effective light-travel time measurement. After removing the flux variation caused by the orbit, we calculated the amplitude spectrum to search for pulsations. The spectrum clearly shows periodic signal from close to the orbital frequency up to 4600 mu Hz, with the majority of peaks found below 2600 mu Hz. The amplitudes are below 0.1 part-per-thousand, too low to be detected with ground-based photometry. Thus, the high-precision data from the Kepler spacecraft has revealed that the primary of the HW Vir system is a pulsating sdBV star. We argue that the pulsation spectrum of the primary in HW Vir differs from that in other sdB stars due to its relatively fast rotation that is (nearly) phase-locked with the orbit.
Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P< 5 x 10(-8). In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
We present a catalogue of white dwarf candidates selected from the second data release of Gaia (DR2). We used a sample of spectroscopically confirmed white dwarfs from the Sloan Digital Sky Survey (SDSS) to map the entire space spanned by these objects in the Gaia Hertzsprung–Russell diagram. We then defined a set of cuts in absolute magnitude, colour, and a number of Gaia quality flags to remove the majority of contaminating objects. Finally, we adopt a method analogous to the one presented in our earlier SDSS photometric catalogues to calculate a probability of being a white dwarf (PWD) for all Gaia sources that passed the initial selection. The final catalogue is composed of 486641 stars with calculated PWD from which it is possible to select a sample of ≃260000 high-confidence white dwarf candidates in the magnitude range 8 < G < 21. By comparing this catalogue with a sample of SDSS white dwarf candidates, we estimate an upper limit in completeness of 85 per cent for white dwarfs with G ≤ 20 mag and Teff >7000 K, at high Galactic latitudes (|b| > 20°). However, the completeness drops at low Galactic latitudes, and the magnitude limit of the catalogue varies significantly across the sky as a function of Gaia’s scanning law. We also provide the list of objects within our sample with available SDSS spectroscopy. We use this spectroscopic sample to characterize the observed structure of the white dwarf distribution in the H–R diagram.
Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother–child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P < 5 Â 10 À8 . In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
Eclipsing post-common-envelope binaries are highly important for resolving the poorly understood, very short-lived common-envelope phase of stellar evolution. Most hot subdwarfs (sdO/Bs) are the bare helium-burning cores of red giants that have lost almost all of their hydrogen envelope. This mass loss is often triggered by common-envelope interactions with close stellar or even substellar companions. Cool companions to hot subdwarf stars such as late-type stars and brown dwarfs are detectable from characteristic light-curve variations - reflection effects and often eclipses. In the recently published catalog of eclipsing binaries in the Galactic Bulge and in the Asteroid Terrestrial-impact Last Alert System (ATLAS) survey, we discovered 125 new eclipsing systems showing a reflection effect seen by visual inspection of the light curves and using a machine-learning algorithm, in addition to the 36 systems previously discovered by the Optical Gravitational Lesing Experiment (OGLE) team. The Eclipsing Reflection Effect Binaries from Optical Surveys (EREBOS) project aims at analyzing all newly discovered eclipsing binaries of the HW Vir type (hot subdwarf + close, cool companion) based on a spectroscopic and photometric follow up to derive the mass distribution of the companions, constrain the fraction of substellar companions, and determine the minimum mass needed to strip off the red-giant envelope. To constrain the nature of the primary we derived the absolute magnitude and the reduced proper motion of all our targets with the help of the parallaxes and proper motions measured by the Gaia mission and compared those to the Gaia white-dwarf candidate catalog. It was possible to derive the nature of a subset of our targets, for which observed spectra are available, by measuring the atmospheric parameter of the primary, confirming that less than 10% of our systems are not sdO/Bs with cool companions but are white dwarfs or central stars of planetary nebula. This large sample of eclipsing hot subdwarfs with cool companions allowed us to derive a significant period distribution for hot subdwarfs with cool companions for the first time showing that the period distribution is much broader than previously thought and is ideally suited to finding the lowest-mass companions to hot subdwarf stars. The comparison with related binary populations shows that the period distribution of HW Vir systems is very similar to WD+dM systems and central stars of planetary nebula with cool companions. In the future, several new photometric surveys will be carried out, which will further increase the sample of this project, providing the potential to test many aspects of common-envelope theory and binary evolution.
Coccolithophores have influenced the global climate for over 200 million years(1). These marine phytoplankton can account for 20 per cent of total carbon fixation in some systems(2). They form blooms that can occupy hundreds of thousands of square kilometres and are distinguished by their elegantly sculpted calcium carbonate exoskeletons (coccoliths), rendering them visible from space(3). Although coccolithophores export carbon in the form of organic matter and calcite to the sea floor, they also release CO2 in the calcification process. Hence, they have a complex influence on the carbon cycle, driving either CO2 production or uptake, sequestration and export to the deep ocean(4). Here we report the first haptophyte reference genome, from the coccolithophore Emiliania huxleyi strain CCMP1516, and sequences from 13 additional isolates. Our analyses reveal a pan genome (core genes plus genes distributed variably between strains) probably supported by an atypical complement of repetitive sequence in the genome. Comparisons across strains demonstrate that E. huxleyi, which has long been considered a single species, harbours extensive genome variability reflected in different metabolic repertoires. Genome variability within this species complex seems to underpin its capacity both to thrive in habitats ranging from the equator to the subarctic and to form large-scale episodic blooms under a wide variety of environmental conditions.