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1.
  • Blokland, G. A. M., et al. (author)
  • Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
  • 2022
  • In: Biological Psychiatry. - : Elsevier BV. - 0006-3223 .- 1873-2402. ; 91:1, s. 102-117
  • Journal article (peer-reviewed)abstract
    • Background: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk. Methods: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. Results: Across disorders, genome-wide significant single nucleotide polymorphism–by-sex interaction was detected for a locus encompassing NKAIN2 (rs117780815, p = 3.2 × 10−8), which interacts with sodium/potassium-transporting ATPase (adenosine triphosphatase) enzymes, implicating neuronal excitability. Three additional loci showed evidence (p < 1 × 10−6) for cross-disorder G×S interaction (rs7302529, p = 1.6 × 10−7; rs73033497, p = 8.8 × 10−7; rs7914279, p = 6.4 × 10−7), implicating various functions. Gene-based analyses identified G×S interaction across disorders (p = 8.97 × 10−7) with transcriptional inhibitor SLTM. Most significant in SCZ was a MOCOS gene locus (rs11665282, p = 1.5 × 10−7), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509, p = 1.1 × 10−7) in a locus containing IDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant G×S interaction of genes regulating vascular endothelial growth factor receptor signaling in MDD (false discovery rate-corrected p < .05). Conclusions: In the largest genome-wide G×S analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development and immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway levels. © 2021 Society of Biological Psychiatry
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  • Kankare, E., et al. (author)
  • Search for transient optical counterparts to high-energy IceCube neutrinos with Pan-STARRS1
  • 2019
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 626
  • Journal article (peer-reviewed)abstract
    • In order to identify the sources of the observed diffuse high-energy neutrino flux, it is crucial to discover their electromagnetic counterparts. To increase the sensitivity of detecting counterparts of transient or variable sources by telescopes with a limited field of view, IceCube began releasing alerts for single high-energy (E-v > 60 TeV) neutrino detections with sky localisation regions of order 1 degrees radius in 2016. We used Pan-STARRS1 to follow-up five of these alerts during 2016-2017 to search for any optical transients that may be related to the neutrinos. Typically 10-20 faint m(ip1) less than or similar to 22.5 mag) extragalactic transients are found within the Pan-STARRS1 footprints and are generally consistent with being unrelated field supernovae (SNe) and AGN. We looked for unusual properties of the detected transients, such as temporal coincidence of explosion epoch with the IceCube timestamp, or other peculiar light curve and physical properties. We found only one transient that had properties worthy of a specific follow-up. In the Pan-STARRS1 imaging for IceCube-160427A (probability to be of astrophysical origin of similar to 50%), we found a SN PS16cgx, located at 10.0' from the nominal IceCube direction. Spectroscopic observations of PS16cgx showed that it was an H-poor SN at redshift z = 0.2895 +/- 0.0001. The spectra and light curve resemble some high-energy Type Ic SNe, raising the possibility of a jet driven SN with an explosion epoch temporally coincident with the neutrino detection. However, distinguishing Type Ia and Type Ic SNe at this redshift is notoriously difficult. Based on all available data we conclude that the transient is more likely to be a Type Ia with relatively weak Sin absorption and a fairly normal rest-frame r-band light curve. If, as predicted, there is no high-energy neutrino emission from Type Ia SNe, then PS16cgx must be a random coincidence, and unrelated to the IceCube-160427A. We find no other plausible optical transient for any of the five IceCube events observed down to a 5 sigma limiting magnitude of mip1 approximate to 22 mag, between 1 day and 25 days after detection.
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  • van Rheenen, W, et al. (author)
  • Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
  • 2021
  • In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 53:12, s. 1636-
  • Journal article (peer-reviewed)abstract
    • Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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  • de Jong, S, et al. (author)
  • Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
  • 2018
  • In: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
  • Journal article (peer-reviewed)abstract
    • Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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  • Smartt, S. J., et al. (author)
  • A kilonova as the electromagnetic counterpart to a gravitational-wave source
  • 2017
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 551:7678, s. 75-
  • Journal article (peer-reviewed)abstract
    • Gravitational waves were discovered with the detection of binary black-hole mergers(1) and they should also be detectable from lower-mass neutron-star mergers. These are predicted to eject material rich in heavy radioactive isotopes that can power an electromagnetic signal. This signal is luminous at optical and infrared wavelengths and is called a kilonova(2-5). The gravitational-wave source GW170817 arose from a binary neutron-star merger in the nearby Universe with a relatively well confined sky position and distance estimate(6). Here we report observations and physical modelling of a rapidly fading electromagnetic transient in the galaxy NGC 4993, which is spatially coincident with GW170817 and with a weak, short.-ray burst(7,8). The transient has physical parameters that broadly match the theoretical predictions of blue kilonovae from neutron-star mergers. The emitted electromagnetic radiation can be explained with an ejected mass of 0.04 +/- 0.01 solar masses, with an opacity of less than 0.5 square centimetres per gram, at a velocity of 0.2 +/- 0.1 times light speed. The power source is constrained to have a power-law slope of -1.2 +/- 0.3, consistent with radioactive powering from r-process nuclides. (The r-process is a series of neutron capture reactions that synthesise many of the elements heavier than iron.) We identify line features in the spectra that are consistent with light r-process elements (atomic masses of 90-140). As it fades, the transient rapidly becomes red, and a higher-opacity, lanthanide-rich ejecta component may contribute to the emission. This indicates that neutron-star mergers produce gravitational waves and radioactively powered kilonovae, and are a nucleosynthetic source of the r-process elements.
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  • Léget, P. -F., et al. (author)
  • Correcting for peculiar velocities of Type la supernovae in clusters of galaxies
  • 2018
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 615
  • Journal article (peer-reviewed)abstract
    • Context. Type Ia supernovae (SNe Ia) are widely used to measure the expansion of the Universe. To perform such measurements the luminosity and cosmological redshift (z) of the SNe Ia have to be determined. The uncertainty on z includes an unknown peculiar velocity, which can be very large for SNe Ia in the virialized cores of massive clusters. Aims. We determine which SNe Ia exploded in galaxy clusters using 145 SNe Ia from the Nearby Supernova Factory. We then study how the correction for peculiar velocities of host galaxies inside the clusters improves the Hubble residuals. Methods. We found 11 candidates for membership in clusters. We applied the biweight technique to estimate the redshift of a cluster. Then, we used the galaxy cluster redshift instead of the host galaxy redshift to construct the Hubble diagram. Results. For SNe Ia inside galaxy clusters, the dispersion around the Hubble diagram when peculiar velocities are taken into account is smaller compared with a case without peculiar velocity correction, which has a wRMS = 0.130 +/- 0.038 mag instead of wRMS = 0.137 +/- 0.036 mag. The significance of this improvement is 3.58 sigma. If we remove the very nearby Virgo cluster member SN2006X (z < 0.01) from the analysis, the significance decreases to 1.34 sigma. The peculiar velocity correction is found to be highest for the SNe Ia hosted by blue spiral galaxies. Those SNe Ia have high local specific star formation rates and smaller stellar masses, which is seemingly counter to what might be expected given the heavy concentration of old, massive elliptical galaxies in clusters. Conclusions. As expected, the Hubble residuals of SNe Ia associated with massive galaxy clusters improve when the cluster redshift is taken as the cosmological redshift of the supernova. This fact has to be taken into account in future cosmological analyses in order to achieve higher accuracy for cosmological redshift measurements. We provide an approach to do so.
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  • Léget, P-F, et al. (author)
  • SUGAR : An improved empirical model of Type Ia supernovae based on spectral features
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 636
  • Journal article (peer-reviewed)abstract
    • Context. Type Ia supernovae (SNe Ia) are widely used to measure the expansion of the Universe. Improving distance measurements of SNe Ia is one technique to better constrain the acceleration of expansion and determine its physical nature.Aims. This document develops a new SNe Ia spectral energy distribution (SED) model, called the SUpernova Generator And Reconstructor (SUGAR), which improves the spectral description of SNe Ia, and consequently could improve the distance measurements.Methods. This model was constructed from SNe Ia spectral properties and spectrophotometric data from the Nearby Supernova Factory collaboration. In a first step, a principal component analysis-like method was used on spectral features measured at maximum light, which allowed us to extract the intrinsic properties of SNe Ia. Next, the intrinsic properties were used to extract the average extinction curve. Third, an interpolation using Gaussian processes facilitated using data taken at different epochs during the lifetime of an SN Ia and then projecting the data on a fixed time grid. Finally, the three steps were combined to build the SED model as a function of time and wavelength. This is the SUGAR model.Results. The main advancement in SUGAR is the addition of two additional parameters to characterize SNe Ia variability. The first is tied to the properties of SNe Ia ejecta velocity and the second correlates with their calcium lines. The addition of these parameters, as well as the high quality of the Nearby Supernova Factory data, makes SUGAR an accurate and efficient model for describing the spectra of normal SNe Ia as they brighten and fade.Conclusions. The performance of this model makes it an excellent SED model for experiments like the Zwicky Transient Facility, the Large Synoptic Survey Telescope, or the Wide Field Infrared Survey Telescope.
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  • Nordin, J., et al. (author)
  • Understanding type Ia supernovae through their U-band spectra
  • 2018
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 614
  • Journal article (peer-reviewed)abstract
    • Context. Observations of type Ia supernovae (SNe Ia) can be used to derive accurate cosmological distances through empirical standardization techniques. Despite this success neither the progenitors of SNe Ia nor the explosion process are fully understood. The U-band region has been less well observed for nearby SNe, due to technical challenges, but is the most readily accessible band for high-redshift SNe. Aims. Using spectrophotometry from the Nearby Supernova Factory, we study the origin and extent of U-band spectroscopic variations in SNe Ia and explore consequences for their standardization and the potential for providing new insights into the explosion process. Methods. We divide the U-band spectrum into four wavelength regions lambda(uNi), lambda(uTi), lambda(uSi) and lambda(uCa). Two of these span the Ca H&K lambda lambda 3934, 3969 complex. We employ spectral synthesis using SYNAPPS to associate the two bluer regions with Ni/Co and Ti. Results. The flux of the uTi feature is an extremely sensitive temperature/ luminosity indicator, standardizing the SN peak luminosity to 0.116 +/- 0.011 mag root mean square (RMS). A traditional SALT2. 4 fit on the same sample yields a 0.135 mag RMS. Standardization using uTi also reduces the difference in corrected magnitude between SNe originating from different host galaxy environments. Early U-band spectra can be used to probe the Ni + Co distribution in the ejecta, thus offering a rare window into the source of light curve power. The uCa flux further improves standardization, yielding a 0.086 +/- 0.010 mag RMS without the need to include an additional intrinsic dispersion to reach chi(2) /dof similar to 1. This reduction in RMS is partially driven by an improved standardization of Shallow Silicon and 91T-like SNe.
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  • Rigault, M., et al. (author)
  • Strong dependence of Type Ia supernova standardization on the local specific star formation rate
  • 2020
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 644
  • Journal article (peer-reviewed)abstract
    • As part of an on-going effort to identify, understand and correct for astrophysics biases in the standardization of Type Ia supernovae (SN Ia) for cosmology, we have statistically classified a large sample of nearby SNe Ia into those that are located in predominantly younger or older environments. This classification is based on the specific star formation rate measured within a projected distance of 1 kpc from each SN location (LsSFR). This is an important refinement compared to using the local star formation rate directly, as it provides a normalization for relative numbers of available SN progenitors and is more robust against extinction by dust. We find that the SNe Ia in predominantly younger environments are ΔY = 0.163 ± 0.029 mag (5.7σ) fainter than those in predominantly older environments after conventional light-curve standardization. This is the strongest standardized SN Ia brightness systematic connected to the host-galaxy environment measured to date. The well-established step in standardized brightnesses between SNe Ia in hosts with lower or higher total stellar masses is smaller, at ΔM = 0.119 ± 0.032 mag (4.5σ), for the same set of SNe Ia. When fit simultaneously, the environment-age offset remains very significant, with ΔY = 0.129 ± 0.032 mag (4.0σ), while the global stellar mass step is reduced to ΔM = 0.064  ±  0.029 mag (2.2σ). Thus, approximately 70% of the variance from the stellar mass step is due to an underlying dependence on environment-based progenitor age. Also, we verify that using the local star formation rate alone is not as powerful as LsSFR at sorting SNe Ia into brighter and fainter subsets. Standardization that only uses the SNe Ia in younger environments reduces the total dispersion from 0.142  ±  0.008 mag to 0.120  ±  0.010 mag. We show that as environment-ages evolve with redshift, a strong bias, especially on the measurement of the derivative of the dark energy equation of state, can develop. Fortunately, data that measure and correct for this effect using our local specific star formation rate indicator, are likely to be available for many next-generation SN Ia cosmology experiments.
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  • Huang, X., et al. (author)
  • The Extinction Properties of and Distance to the Highly Reddened Type IA Supernova 2012cu
  • 2017
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 836:2
  • Journal article (peer-reviewed)abstract
    • Correcting Type Ia Supernova brightnesses for extinction by dust has proven to be a vexing problem. Here we study the dust foreground to the highly reddened SN 2012cu, which is projected onto a dust lane in the galaxy NGC 4772. The analysis is based on multi-epoch, spectrophotometric observations spanning from 3300-9200 A degrees, obtained by the Nearby Supernova Factory. Phase-matched comparison of the spectroscopically twinned SN 2012cu and SN 2011fe across 10 epochs results in the best-fit color excess of (E(B-V), RMS) = (1.00, 0.03) and total-to-selective extinction ratio of (RV, RMS) = (2.95, 0.08) toward SN 2012cu within its host galaxy. We further identify several diffuse interstellar bands and compare the 5780 angstrom band with the dust- to-band ratio for the Milky Way (MW). Overall, we find the foreground dust-extinction properties for SN 2012cu to be consistent with those of the MW. Furthermore, we find no evidence for significant time variation in any of these extinction tracers. We also compare the dust extinction curve models of Cardelli et al., O'Donnell,. and Fitzpatrick, and find the predictions of Fitzpatrick fit SN 2012cu the best. Finally, the distance to NGC4772, the host of SN 2012cu, at a redshift of z = 0.0035, often assigned to the Virgo Southern Extension, is determined to be 16.6 +/- 1.1 Mpc. We compare this result with distance measurements in the literature.
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  • Sasdelli, Michele, et al. (author)
  • A metric space for Type Ia supernova spectra
  • 2015
  • In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 447:2, s. 1247-1266
  • Journal article (peer-reviewed)abstract
    • We develop a new framework for use in exploring Type Ia supernovae (SNe Ia) spectra. Combining principal component analysis (PCA) and partial least square (PLS) analysis we are able to establish correlations between the principal components (PCs) and spectroscopic/photometric SNe Ia features. The technique was applied to similar to 120 SN and similar to 800 spectra from the Nearby Supernova Factory. The ability of PCA to group together SNe Ia with similar spectral features, already explored in previous studies, is greatly enhanced by two important modifications: (1) the initial data matrix is built using derivatives of spectra over the wavelength, which increases the weight of weak lines and discards extinction, and (2) we extract time evolution information through the use of entire spectral sequences concatenated in each line of the input data matrix. These allow us to define a stable PC parameter space which can be used to characterize synthetic SN Ia spectra by means of real SN features. Using PLS, we demonstrate that the information from important previously known spectral indicators (namely the pseudo-equivalent width of Si II 5972 angstrom/Si II 6355 angstrom and the line veloci of S II 5640 angstrom/Si II 6355 angstrom) at a given epoch is contained within the PC space and can be determined through a linear combination of the most important PCs. We also show that the PC space encompasses photometric features like B/V magnitudes, B - V colours and SALT2 parameters c and x(1). The observed colours and magnitudes, which are heavily affected by extinction, cannot be reconstructed using this technique alone. All the above-mentioned applications allowed us to construct a metric space for comparing synthetic SN Ia spectra with observations.
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  • Saunders, C., et al. (author)
  • SNEMO : Improved Empirical Models for Type Ia Supernovae
  • 2018
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 869:2
  • Journal article (peer-reviewed)abstract
    • SN Ia cosmology depends on the ability to fit and standardize observations of supernova magnitudes with an empirical model. We present here a series of new models of SN Ia spectral time series that capture a greater amount of supernova diversity than is possible with the models that are currently customary. These are entitled SuperNova Empirical MOdels (SNEMO; https://snfactory.lbl.gov/snemo). The models are constructed using spectrophotometric time series from 172 individual supernovae from the Nearby Supernova Factory, comprising more than 2000 spectra. Using the available observations, Gaussian processes are used to predict a full spectral time series for each supernova. A matrix is constructed from the spectral time series of all the supernovae, and Expectation Maximization Factor Analysis is used to calculate the principal components of the data. K-fold cross-validation then determines the selection of model parameters and accounts for color variation in the data. Based on this process, the final models are trained on supernovae that have been dereddened using the Fitzpatrick and Massa extinction relation. Three final models are presented here: SNEMO2, a two-component model for comparison with current Type Ia models; SNEMO7, a seven-component model chosen for standardizing supernova magnitudes, which results in a total dispersion of 0.100mag for a validation set of supernovae, of which 0.087 mag is unexplained (a total dispersion of 0.113 mag with an unexplained dispersion of 0.097 mag is found for the total set of training and validation supernovae); and SNEMO15, a comprehensive 15-component model that maximizes the amount of spectral time-series behavior captured.
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  • Taubenberger, S., et al. (author)
  • SN2012dn from early to late times : 09dc-like supernovae reassessed
  • 2019
  • In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 488:4, s. 5473-5488
  • Journal article (peer-reviewed)abstract
    • As a candidate super-Chandrasekhar' or 09dc-like TypeIa supernova (SNIa), SN 2012dn shares many characteristics with other members of this remarkable class of objects but lacks their extraordinary luminosity. Here, we present and discuss the most comprehensive optical data set of this SN to date, comprised of a densely sampled series of early-time spectra obtained within the Nearby Supernova Factory project, plus photometry and spectroscopy obtained at the Very Large Telescope about 1yr after the explosion. The light curves, colour curves, spectral time series, and ejecta velocities of SN 2012dn are compared with those of other 09dc-like and normal SNeIa, the overall variety within the class of 09dc-like SNeIa is discussed, and new criteria for 09dc-likeness are proposed. Particular attention is directed to additional insight that the late-phase data provide. The nebular spectra show forbidden lines of oxygen and calcium, elements that are usually not seen in late-time spectra of SNeIa, while the ionization state of the emitting iron plasma is low, pointing to low ejecta temperatures and high densities. The optical light curves are characterized by an enhanced fading starting similar to 60d after maximum and very low luminosities in the nebular phase, which is most readily explained by unusually early formation of clumpy dust in the ejecta. Taken together, these effects suggest a strongly perturbed ejecta density profile, which might lend support to the idea that 09dc-like characteristics arise from a brief episode of interaction with a hydrogen-deficient envelope during the first hours or days after the explosion.
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  • Gorlova, Olga, et al. (author)
  • Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
  • 2011
  • In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 7:7
  • Journal article (peer-reviewed)abstract
    • The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc). We considered limited (IcSSc) and diffuse (dcSSc) cutaneous involvement, and the relationships with presence of the SSc-specific auto-antibodies, anti-centromere (ACA), and anti-topoisomerase I (ATA). Four GWAS cohorts, comprising 2,296 SSc patients and 5,171 healthy controls, were meta-analyzed looking for associations in the selected subgroups. Eighteen polymorphisms were further tested in nine independent cohorts comprising an additional 3,175 SSc patients and 4,971 controls. Conditional analysis for associated SNPs in the HLA region was performed to explore their independent association in antibody subgroups. Overall analysis showed that non-HLA polymorphism rs11642873 in IRF8 gene to be associated at GWAS level with lcSSc (P = 2.32x10(-12), OR = 0.75). Also, rs12540874 in GRB10 gene (P = 1.27 x 10(-6), OR = 1.15) and rs11047102 in SOX5 gene (P = 1.39x10(-7), OR = 1.36) showed a suggestive association with lcSSc and ACA subgroups respectively. In the HLA region, we observed highly associated allelic combinations in the HLA-DQB1 locus with ACA (P = 1.79x10(-61), OR = 2.48), in the HLA-DPA1/B1 loci with ATA (P = 4.57x10(-76), OR = 8.84), and in NOTCH4 with ACA P = 8.84x10(-21), OR = 0.55) and ATA (P = 1.14x10(-8), OR = 0.54). We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and autoantibody subgroups. Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies. These data emphasize the differential genetic components of subphenotypes of SSc.
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  • Lombardo, S., et al. (author)
  • SCALA : In situ calibration for integral field spectrographs
  • 2017
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 607
  • Journal article (peer-reviewed)abstract
    • Aims. The scientific yield of current and future optical surveys is increasingly limited by systematic uncertainties in the flux calibration. This is the case for type Ia supernova (SN Ia) cosmology programs, where an improved calibration directly translates into improved cosmological constraints. Current methodology rests on models of stars. Here we aim to obtain flux calibration that is traceable to state-of-the-art detector-based calibration. Methods. We present the SNIFS Calibration Apparatus (SCALA), a color (relative) flux calibration system developed for the SuperNova integral field spectrograph (SNIFS), operating at the University of Hawaii 2.2 m (UH 88) telescope. Results. By comparing the color trend of the illumination generated by SCALA during two commissioning runs, and to previous laboratory measurements, we show that we can determine the light emitted by SCALA with a long-term repeatability better than 1%. We describe the calibration procedure necessary to control for system aging. We present measurements of the SNIFS throughput as estimated by SCALA observations. Conclusions. The SCALA calibration unit is now fully deployed at the UH 88 telescope, and with it color-calibration between 4000 angstrom and 9000 angstrom is stable at the percent level over a one-year baseline.
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  • Lopez-Isac, E, et al. (author)
  • GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
  • 2019
  • In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4955-
  • Journal article (peer-reviewed)abstract
    • Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.
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  • Leloudas, G., et al. (author)
  • SN 2006oz : rise of a super-luminous supernova observed by the SDSS-II SN Survey
  • 2012
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 541, s. A129-
  • Journal article (peer-reviewed)abstract
    • Context. A new class of super-luminous transients has recently been identified. These objects reach absolute luminosities of M-u < -21, lack hydrogen in their spectra, and are exclusively discovered by non-targeted surveys because they are associated with very faint galaxies. Aims. We aim to contribute to a better understanding of these objects by studying SN 2006oz, a newly-recognized member of this class. Methods. We present multi-color light curves of SN 2006oz from the SDSS-II SN Survey that cover its rise time, as well as an optical spectrum that shows that the explosion occurred at z similar to 0.376. We fitted black-body functions to estimate the temperature and radius evolution of the photosphere and used the parametrized code SYNOW to model the spectrum. We constructed a bolometric light curve and compared it with explosion models. In addition, we conducted a deep search for the host galaxy with the 10 m GTC telescope. Results. The very early light curves show a dip in the g-and r-bands and a possible initial cooling phase in the u-band before rising to maximum light. The bolometric light curve shows a precursor plateau with a duration of 6-10 days in the rest-frame. A lower limit of M-u < -21.5 can be placed on the absolute peak luminosity of the SN, while the rise time is constrained to be at least 29 days. During our observations, the emitting sphere doubled its radius to similar to 2 x 10(15) cm, while the temperature remained hot at similar to 15 000 K. As for other similar SNe, the spectrum is best modeled with elements including O II and Mg II, while we tentatively suggest that Fe III might be present. The host galaxy is detected in gri with 25.74 +/- 0.19, 24.43 +/- 0.06, and 24.14 +/- 0.12, respectively. It is a faint dwarf galaxy with M-g = -16.9. Conclusions. We suggest that the precursor plateau might be related to a recombination wave in a circumstellar medium (CSM) and discuss whether this is a common property of all similar explosions. The subsequent rise can be equally well described by input from a magnetar or by ejecta-CSM interaction, but the models are not well constrained owing to the lack of post-maximum observations, and CSM interaction has difficulties accounting for the precursor plateau self-consistently. Radioactive decay is less likely to be the mechanism that powers the luminosity. The host is a moderately young and star-forming, but not a starburst, galaxy.
  •  
27.
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28.
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29.
  • Rubin, D., et al. (author)
  • The Discovery of a Gravitationally Lensed Supernova Ia at Redshift 2.22
  • 2018
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 866:1
  • Journal article (peer-reviewed)abstract
    • We present the discovery and measurements of a gravitationally lensed supernova (SN) behind the galaxy cluster MOO J1014+0038. Based on multi-band Hubble Space Telescope and Very Large Telescope (VLT) photometry of the supernova, and VLT spectroscopy of the host galaxy, we find a 97.5% probability that this SN is a SN Ia, and a 2.5% chance of a CC SN. Our typing algorithm combines the shape and color of the light curve with the expected rates of each SN type in the host galaxy. With a redshift of 2.2216, this is the highest redshift SN. Ia discovered with a spectroscopic host-galaxy redshift. A further distinguishing feature is that the lensing cluster, at redshift 1.23, is the most distant to date to have an amplified SN. The SN lies in the middle of the color and light-curve shape distributions found at lower redshift, disfavoring strong evolution to z = 2.22. We estimate an amplification due to gravitational lensing of 2.8(-0.5)(+0.6) (1.10 +/- 0.23 mag)-compatible with the value estimated from the weak-lensing-derived mass and the mass-concentration relation from Lambda CDM simulations-making it the most amplified SN Ia discovered behind a galaxy cluster.
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30.
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31.
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32.
  • Cenit, MC, et al. (author)
  • Influence of the IL6 gene in susceptibility to systemic sclerosis
  • 2012
  • In: The Journal of rheumatology. - : The Journal of Rheumatology. - 0315-162X .- 1499-2752. ; 39:12, s. 2294-2302
  • Journal article (peer-reviewed)abstract
    • Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and phenotype expression of SSc.Methods.We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6 single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan® allele discrimination technology.Results.Individual SNP metaanalysis showed no evidence of association of the 3 IL6 genetic variants with the global disease. Phenotype analyses revealed a significant association between the minor allele of rs2069840 and the limited cutaneous SSc clinical form (Bonferroni p = 0.036, OR 1.14, 95% CI 1.04–1.25). A trend of association between the minor allele of the rs1800795 and the diffuse cutaneous SSc clinical form was also evident (Bonferroni p = 0.072, OR 0.86, 95% CI 0.77–0.96). In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04–1.23).Conclusion.Our results suggest that the IL6 gene may influence the development of SSc and its progression.
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33.
  • Diaz-Gallo, LM, et al. (author)
  • Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility
  • 2013
  • In: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 72:7, s. 1233-1238
  • Journal article (peer-reviewed)abstract
    • The interleukin 2 (IL-2) and interleukin 21 (IL-21) locus at chromosome 4q27 has been associated with several autoimmune diseases, and both genes are related to immune system functions. The aim of this study was to evaluate the role of the IL-2/IL-21 locus in systemic sclerosis (SSc).Patients and methodsThe case control study included 4493 SSc Caucasian patients and 5856 healthy controls from eight Caucasian populations (Spain, Germany, The Netherlands, USA, Italy, Sweden, UK and Norway). Four single nucleotide polymorphisms (rs2069762, rs6822844, rs6835457 and rs907715) were genotyped using TaqMan allelic discrimination assays.ResultsWe observed evidence of association of the rs6822844 and rs907715 variants with global SSc (pc=6.6E-4 and pc=7.2E-3, respectively). Similar statistically significant associations were observed for the limited cutaneous form of the disease. The conditional regression analysis suggested that the most likely genetic variation responsible for the association was the rs6822844 polymorphism. Consistently, the rs2069762A-rs6822844T-rs6835457G-rs907715T allelic combination showed evidence of association with SSc and limited cutaneous SSc subtype (pc=1.7E-03 and pc=8E-4, respectively).ConclusionsThese results suggested that the IL-2/IL-21 locus influences the genetic susceptibility to SSc. Moreover, this study provided further support for the IL-2/IL-21 locus as a common genetic factor in autoimmune diseases.
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34.
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35.
  • Fremling, C., et al. (author)
  • The Zwicky Transient Facility Bright Transient Survey. I. Spectroscopic Classification and the Redshift Completeness of Local Galaxy Catalogs
  • 2020
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 895:1
  • Journal article (peer-reviewed)abstract
    • The Zwicky Transient Facility (ZTF) is performing a three-day cadence survey of the visible northern sky (similar to 3 pi) with newly found transient candidates announced via public alerts. The ZTF Bright Transient Survey (BTS) is a large spectroscopic campaign to complement the photometric survey. BTS endeavors to spectroscopically classify all extragalactic transients with m(peak) <= 18.5 mag in either the g(ZTF) or r(ZTF) filters, and publicly announce said classifications. BTS discoveries are predominantly supernovae (SNe), making this the largest flux-limited SN survey to date. Here we present a catalog of 761 SNe, classified during the first nine months of ZTF (2018 April 1-2018 December 31). We report BTS SN redshifts from SN template matching and spectroscopic host-galaxy redshifts when available. We analyze the redshift completeness of local galaxy catalogs, the redshift completeness fraction (RCF; the ratio of SN host galaxies with known spectroscopic redshift prior to SN discovery to the total number of SN hosts). Of the 512 host galaxies with SNe Ia, 227 had previously known spectroscopic redshifts, yielding an RCF estimate of 44% 4%. The RCF decreases with increasing distance and decreasing galaxy luminosity (for z < 0.05, or similar to 200 Mpc, RCF 0.6). Prospects for dramatically increasing the RCF are limited to new multifiber spectroscopic instruments or wide-field narrowband surveys. Existing galaxy redshift catalogs are only similar to 50% complete at r 16.9 mag. Pushing this limit several magnitudes deeper will pay huge dividends when searching for electromagnetic counterparts to gravitational wave events or sources of ultra-high-energy cosmic rays or neutrinos.
  •  
36.
  • Kool, Erik C., et al. (author)
  • SN 2020bqj : A Type Ibn supernova with a long-lasting peak plateau
  • 2021
  • In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 652
  • Journal article (peer-reviewed)abstract
    • Context. Type Ibn supernovae (SNe Ibn) are a rare class of stripped envelope supernovae interacting with a helium-rich circumstellar medium (CSM). The majority of the SNe Ibn reported in the literature display a surprising homogeneity in their fast-evolving lightcurves and are typically found in actively starforming spiral galaxies.Aims. We present the discovery and the study of SN 2020bqj (ZTF20aalrqbu), a SN Ibn with a long-duration peak plateau lasting 40 days and hosted by a faint low-mass galaxy. We aim to explain its peculiar properties using an extensive photometric and spectroscopic data set.Methods. We compare the photometric and spectral evolution of SN 2020bqj with regular SNe Ibn from the literature, as well as with other outliers in the SN Ibn subclass. We fit the bolometric and multi-band lightcurves with powering mechanism models such as radioactive decay and CSM interaction. We also model the host galaxy of SN 2020bqj.Results. The risetime, peak magnitude and spectral features of SN 2020bqj are consistent with those of most SNe Ibn, but the SN is a clear outlier in the subclass based on its bright, long-lasting peak plateau and the low mass of its faint host galaxy. We show through modeling that the lightcurve of SN 2020bqj can be powered predominantly by shock heating from the interaction of the SN ejecta and a dense CSM, combined with radioactive decay. The peculiar Type Ibn SN 2011hw is a close analog to SN 2020bqj in terms of lightcurve and spectral evolution, suggesting a similar progenitor and CSM scenario. In this scenario a very massive progenitor star in the transitional phase between a luminous blue variable and a compact Wolf-Rayet star undergoes core-collapse, embedded in a dense helium-rich CSM with an elevated opacity compared to normal SNe Ibn, due to the presence of residual hydrogen. This scenario is consistent with the observed properties of SN 2020bqj and the modeling results.Conclusions. SN 2020bqj is a compelling example of a transitional SN Ibn/IIn based on not only its spectral features, but also its lightcurve, host galaxy properties and the inferred progenitor properties. The strong similarity with SN 2011hw suggests this subclass may be the result of a progenitor in a stellar evolution phase that is distinct from those of progenitors of regular SNe Ibn.
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37.
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38.
  • Nordin, Jakob, et al. (author)
  • EVIDENCE FOR A CORRELATION BETWEEN THE Si II lambda 4000 WIDTH AND TYPE Ia SUPERNOVA COLOR
  • 2011
  • In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 734:1, s. 42-
  • Journal article (peer-reviewed)abstract
    • We study the pseudo-equivalent width of the Si II lambda 4000 feature of Type Ia supernovae (SNe Ia) in the redshift range 0.0024 <= z <= 0.634. We find that this spectral indicator correlates with the light curve color excess (SALT2c) as well as previously defined spectroscopic subclasses (Branch types) and the evolution of the Si II lambda 6150 velocity, i.e., the so-called velocity gradient. Based on our study of 55 objects from different surveys, we find indications that the Si II lambda 4000 spectral indicator could provide important information to improve cosmological distance measurements with SNe Ia.
  •  
39.
  • Nordin, Jakob, et al. (author)
  • Evidence for a correlation between the SiII λ4000 width and Type Ia supernova color
  • In: Astrophysical Journal. - 0004-637X .- 1538-4357.
  • Journal article (peer-reviewed)abstract
    • We study the pseudo equivalent width of the SiII λ4000 feature of Type Iasupernovae (SNe Ia) in the redshift range 0.0024 ≤z ≤0.634. We find that this spectral indicator correlateswith the light curve color excess SALT2 c as well as previouslydefined spectroscopic subclasses (Branch types) and theevolution of the  SiII λ6150 velocity, i.e., the so called velocitygradient. Based on our study of 55 objects from different surveys, we find indications that the SiII λ4000 spectral indicatorcould provide important information to improve cosmological distancemeasurements with SNe Ia.
  •  
40.
  • Reusch, Simeon, et al. (author)
  • Candidate Tidal Disruption Event AT2019fdr Coincident with a High-Energy Neutrino
  • 2022
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 128:22
  • Journal article (peer-reviewed)abstract
    • The origins of the high-energy cosmic neutrino flux remain largely unknown. Recently, one high-energy neutrino was associated with a tidal disruption event (TDE). Here we present AT2019fdr, an exceptionally luminous TDE candidate, coincident with another high-energy neutrino. Our observations, including a bright dust echo and soft late-time x-ray emission, further support a TDE origin of this flare. The probability of finding two such bright events by chance is just 0.034%. We evaluate several models for neutrino production and show that AT2019fdr is capable of producing the observed high-energy neutrino, reinforcing the case for TDEs as neutrino sources.
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41.
  •  
42.
  • Williams, S. C., et al. (author)
  • See Change : VLT spectroscopy of a sample of high-redshift Type Ia supernova host galaxies
  • 2020
  • In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 495:4, s. 3859-3880
  • Journal article (peer-reviewed)abstract
    • The Supernova Cosmology Project has conducted the 'See Change' programme, aimed at discovering and observing high-redshift (1.13 <= z <= 1.75) Type Ia supernovae (SNe Ia). We used multifilter Hubble Space Telescope (HST) observations of massive galaxy clusters with sufficient cadence to make the observed SN Ia light curves suitable for a cosmological probe of dark energy at z > 0.5. This See Change sample of SNe Ia with multi-colour light curves will be the largest to date at these redshifts. As part of the See Change programme, we obtained ground-based spectroscopy of each discovered transient and/or its host galaxy. Here, we present Very Large Telescope (VCT) spectra of See Change transient host galaxies, deriving their redshifts, and host parameters such as stellar mass and star formation rate. Of the 39 See Change transients/hosts that were observed with the VLT, we successfully determined the redshift for 26, including 15 SNe Ia at z > 0.97. We show that even in passive environments, it is possible to recover secure redshifts for the majority of SN hosts out to z = 1.5. We find that with typical exposure times of 3-4h on an 8-m-class telescope we can recover similar to 75 per cent of SN Ia redshifts in the range of 0.97 < z < 1.5. Furthermore, we show that the combination of HST photometry and VLT spectroscopy is able to provide estimates of host galaxy stellar mass that are sufficiently accurate for use in a mass-step correction in the cosmological analysis.
  •  
43.
  • Bellm, Eric C., et al. (author)
  • The Zwicky Transient Facility : System Overview, Performance, and First Results
  • 2019
  • In: Publications of the Astronomical Society of the Pacific. - : IOP Publishing. - 0004-6280 .- 1538-3873. ; 131:995
  • Journal article (peer-reviewed)abstract
    • The Zwicky Transient Facility (ZTF) is a new optical time-domain survey that uses the Palomar 48 inch Schmidt telescope. A custom-built wide-field camera provides a 47 deg(2) field of view and 8 s readout time, yielding more than an order of magnitude improvement in survey speed relative to its predecessor survey, the Palomar Transient Factory. We describe the design and implementation of the camera and observing system. The ZTF data system at the Infrared Processing and Analysis Center provides near-real-time reduction to identify moving and varying objects. We outline the analysis pipelines, data products, and associated archive. Finally, we present on-sky performance analysis and first scientific results from commissioning and the early survey. ZTF's public alert stream will serve as a useful precursor for that of the Large Synoptic Survey Telescope.
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44.
  •  
45.
  • Bestas, Burcu, et al. (author)
  • Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model
  • 2014
  • In: Journal of Clinical Investigation. - 0021-9738 .- 1558-8238. ; 124:9, s. 4067-4081
  • Journal article (peer-reviewed)abstract
    • X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton's tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development. Here, we assessed the potential of antisense, splice-correcting oligonucleotides (SCOs) targeting mutated BTKtranscripts for treating XLA. Both the SCO structural design and chemical properties were optimized using 2'-O-methyl, locked nucleic acid, or phosphorodiamidate morpholino backbones. In order to have access to an animal model of XLA, we engineered a transgenic mouse that harbors a BAC with an authentic, mutated, splice-defective human BTK gene. BTK transgenic mice were bred onto a Btk knockout background to avoid interference of the orthologous mouse protein. Using this model, we determined that BTK-specific SCOs are able to correct aberrantly spliced BTK in B lymphocytes, including pro-B cells. Correction of BTK mRNA restored expression of functional protein, as shown both by enhanced lymphocyte survival and reestablished BTK activation upon B cell receptor stimulation. Furthermore, SCO treatment corrected splicing and restored BTK expression in primary cells from patients with XLA. Together, our data demonstrate that SCOs can restore BTK function and that BTK-targeting SCOs have potential as personalized medicine in patients with XLA.
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46.
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47.
  • Bossini-Castillo, Lara, et al. (author)
  • A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations
  • 2012
  • In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:4, s. 926-933
  • Journal article (peer-reviewed)abstract
    • A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs in the IL12RB2 region (2309 SSc patients and 5161 controls). We then selected three SNPs (rs3790567, rs3790566 and rs924080) based on their significance level in the GWAS, for follow-up in an independent European cohort comprising 3344 SSc and 3848 controls. The most-associated SNP (rs3790567) was further tested in an independent cohort comprising 597 SSc patients and 1139 controls from the USA. After conditional logistic regression analysis of the GWAS data, we selected rs3790567 [P-MH = 1.92 x 10(-5) odds ratio (OR) = 1.19] as the genetic variant with the firmest independent association observed in the analyzed GWAS peak of association. After the first follow-up phase, only the association of rs3790567 was consistent (P-MH = 4.84 x 10(-3) OR = 1.12). The second follow-up phase confirmed this finding (P-chi 2 = 2.82 x 10(-4) OR = 1.34). After performing overall pooled-analysis of all the cohorts included in the present study, the association found for the rs3790567 SNP in the IL12RB2 gene region reached GWAS-level significant association (P-MH = 2.82 x 10(-9) OR = 1.17). Our data clearly support the IL12RB2 genetic association with SSc, and suggest a relevant role of the interleukin 12 signaling pathway in SSc pathogenesis.
  •  
48.
  • Bossini-Castillo, Lara, et al. (author)
  • A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort
  • 2011
  • In: Annals of the Rheumatic Diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 70:4, s. 638-641
  • Journal article (peer-reviewed)abstract
    • Objectives The aim of this study was to confirm the influence of TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features. Methods A total of 8 European populations of Caucasian ancestry were included, comprising 3014 patients with SSc and 3125 healthy controls. Four genetic variants of TNFSF4 gene promoter (rs1234314, rs844644, rs844648 and rs12039904) were selected as genetic markers. Results A pooled analysis revealed the association of rs1234314 and rs12039904 polymorphisms with SSc (OR 1.15, 95% CI 1.02 to 1.31; OR 1.18, 95% CI 1.08 to 1.29, respectively). Significant association of the four tested variants with patients with limited cutaneous SSc (lcSSc) was revealed (rs1234314 OR 1.22, 95% CI 1.07 to 1.38; rs844644 OR 0.91, 95% CI 0.83 to 0.99; rs844648 OR 1.10, 95% CI 1.01 to 1.20 and rs12039904 OR 1.20, 95% CI 1.09 to 1.33). Association of rs1234314, rs844648 and rs12039904 minor alleles with patients positive for anti-centromere antibodies (ACA) remained significant (OR 1.23, 95% CI 1.10 to 1.37; OR 1.12, 95% CI 1.01 to 1.25; OR 1.22, 95% CI 1.07 to 1.38, respectively). Haplotype analysis confirmed a protective haplotype associated with SSc, lcSSc and ACA positive subgroups (OR 0.88, 95% CI 0.82 to 0.96; OR 0.88, 95% CI 0.80 to 0.96; OR 0.86, 95% CI 0.77 to 0.97, respectively) and revealed a new risk haplotype associated with the same groups of patients (OR 1.14, 95% CI 1.03 to 1.26; OR 1.20, 95% CI 1.08 to 1.35; OR 1.23, 95% CI 1.07 to 1.42, respectively). Conclusions The data confirm the influence of TNFSF4 polymorphisms in SSc genetic susceptibility, especially in subsets of patients positive for lcSSc and ACA.
  •  
49.
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50.
  • Brostrom, Markus, et al. (author)
  • Influence of torrefaction on the devolatilization and oxidation kinetics of wood
  • 2012
  • In: Journal of Analytical and Applied Pyrolysis. - : Elsevier BV. - 0165-2370 .- 1873-250X. ; 96, s. 100-109
  • Journal article (peer-reviewed)abstract
    • Devolatilization and oxidation kinetics of torrefied wood have been studied by evaluating thermogravimetric curves measured in nitrogen and air at various heating rates. Samples consist of Norway spruce wood chips torrefied at several process temperatures and residence times. Data about untreated wood have also been obtained for comparison. Measured curves are well predicted by means of a five-reaction mechanism, consisting of three devolatilization reactions for the pseudo-components hemicellulose. cellulose and lignin and, in air, of two additional reactions for char devolatilization and combustion. The torrefaction pre-treatment only requires model modifications in the amounts of volatiles generated from the decomposition of pseudo-components, indicating that only their relative percentages and not their reactivities are modified. On the other hand, a slightly different thermal stability is found for the char generated from torrefied wood, which results in higher activation energy and lower reaction order for the oxidation step. Hence torrefaction conditions can affect the subsequent conversion characteristics of the char product. (C) 2012 Elsevier B.V. All rights reserved.
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