| 61. |
- Justice, Anne E., et al.
(author)
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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
- 2019
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In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:3, s. 452-469
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Journal article (peer-reviewed)abstract
- Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
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| 62. |
- Kool, Erik C., et al.
(author)
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SN 2020bqj : A Type Ibn supernova with a long-lasting peak plateau
- 2021
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In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 652
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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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| 63. |
- Langenberg, C., et al.
(author)
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Design and cohort description of the InterAct Project : an examination of the interaction of genetic and lifestyle factors on the incidence of type 2 diabetes in the EPIC Study
- 2011
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In: Diabetologia. - : Springer. - 0012-186X .- 1432-0428. ; 54:9, s. 2272-2282
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Journal article (peer-reviewed)abstract
- Studying gene-lifestyle interaction may help to identify lifestyle factors that modify genetic susceptibility and uncover genetic loci exerting important subgroup effects. Adequately powered studies with prospective, unbiased, standardised assessment of key behavioural factors for gene-lifestyle studies are lacking. This case-cohort study aims to investigate how genetic and potentially modifiable lifestyle and behavioural factors, particularly diet and physical activity, interact in their influence on the risk of developing type 2 diabetes. Incident cases of type 2 diabetes occurring in European Prospective Investigation into Cancer and Nutrition (EPIC) cohorts between 1991 and 2007 from eight of the ten EPIC countries were ascertained and verified. Prentice-weighted Cox regression and random-effects meta-analyses were used to investigate differences in diabetes incidence by age and sex. A total of 12,403 verified incident cases of type 2 diabetes occurred during 3.99 million person-years of follow-up of 340,234 EPIC participants eligible for InterAct. We defined a centre-stratified subcohort of 16,154 individuals for comparative analyses. Individuals with incident diabetes who were randomly selected into the subcohort (n = 778) were included as cases in the analyses. All prevalent diabetes cases were excluded from the study. InterAct cases were followed-up for an average of 6.9 years; 49.7% were men. Mean baseline age and age at diagnosis were 55.6 and 62.5 years, mean BMI and waist circumference values were 29.4 kg/m(2) and 102.7 cm in men, and 30.1 kg/m(2) and 92.8 cm in women, respectively. Risk of type 2 diabetes increased linearly with age, with an overall HR of 1.56 (95% CI 1.48-1.64) for a 10 year age difference, adjusted for sex. A male excess in the risk of incident diabetes was consistently observed across all countries, with a pooled HR of 1.51 (95% CI 1.39-1.64), adjusted for age. InterAct is a large, well-powered, prospective study that will inform our understanding of the interplay between genes and lifestyle factors on the risk of type 2 diabetes development.
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| 64. |
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| 65. |
- Prentice, S. J., et al.
(author)
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Investigating the properties of stripped-envelope supernovae; what are the implications for their progenitors?
- 2019
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In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 485:2, s. 1559-1578
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Journal article (peer-reviewed)abstract
- We present observations and analysis of 18 stripped-envelope supernovae observed during 2013-2018. This sample consists of five H/He-rich SNe, sixH-poor/He-rich SNe, three narrow lined SNe Ic, and four broad lined SNe Ic. The peak luminosity and characteristic time-scales of the bolometric light curves are calculated, and the light curves modelled to derive Ni-56 and ejecta masses (M-Ni and M-cj). Additionally, the temperature evolution and spectral line velocity curves of each SN are examined. Analysis of the [O I] line in the nebular phase of eight SNe suggests their progenitors had initial masses < 20 M-circle dot. The bolometric light curve properties are examined in combination with those of other SE events from the literature. The resulting data set gives the M-ej distribution for 80 SE-SNe, the largest such sample in the literature to date, and shows that SNe Ib have the lowest median M-ej, followed by narrow-lined SNe Ic, H/He-rich SNe, broad-lined SNe Ic, and finally gamma-ray burst SNe. SNe Ic-6/7 show the largest spread of M-ej ranging from similar to 1.2-11 M-circle dot, considerably greater than any other subtype. For all SE-SNe = 2.8 +/- 1.5 M-circle dot which further strengthens the evidence that SE-SNe arise from low-mass progenitors which are typically <5 M-circle dot at the time of explosion, again suggesting M-ZAMS < 25 M-circle dot. The low and lack of clear bimodality in the distribution implies < 30 M-circle dot progenitors and that envelope stripping via binary interaction is the dominant evolutionary pathway of these SNe.
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| 66. |
- Weismuller, T. J., et al.
(author)
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Patient Age, Sex, and Inflammatory Bowel Disease Phenotype Associate With Course of Primary Sclerosing Cholangitis
- 2017
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In: Gastroenterology. - : Elsevier BV. - 0016-5085 .- 1528-0012. ; 152:8, s. 1975-1984.e8
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Journal article (peer-reviewed)abstract
- BACKGROUND & AIMS: Primary sclerosing cholangitis (PSC) is an orphan hepatobiliary disorder associated with inflammatory bowel disease (IBD). We aimed to estimate the risk of disease progression based on distinct clinical phenotypes in a large international cohort of patients with PSC. METHODS: We performed a retrospective outcome analysis of patients diagnosed with PSC from 1980 through 2010 at 37 centers in Europe, North America, and Australia. For each patient, we collected data on sex, clinician-reported age at and date of PSC and IBD diagnoses, phenotypes of IBD and PSC, and date and indication of IBD-related surgeries. The primary and secondary endpoints were liver transplantation or death (LTD) and hepatopancreatobiliary malignancy, respectively. Cox proportional hazards models were applied to determine the effects of individual covariates on rates of clinical events, with time-to-event analysis ascertained through Kaplan-Meier estimates. RESULTS: Of the 7121 patients in the cohort, 2616 met the primary endpoint (median time to event of 14.5 years) and 721 developed hepatopancreatobiliary malignancy. The most common malignancy was cholangiocarcinoma (n = 594); patients of advanced age at diagnosis had an increased incidence compared with younger patients (incidence rate: 1.2 per 100 patient-years for patients younger than 20 years old, 6.0 per 100 patient-years for patients 21-30 years old, 9.0 per 100 patient-years for patients 31-40 years old, 14.0 per 100 patient-years for patients 4150 years old, 15.2 per 100 patient-years for patients 51-60 years old, and 21.0 per 100 patient-years for patients older than 60 years). Of all patients with PSC studied, 65.5% were men, 89.8% had classical or large-duct disease, and 70.0% developed IBD at some point. Assessing the development of IBD as a time-dependent covariate, Crohn's disease and no IBD (both vs ulcerative colitis) were associated with a lower risk of LTD (unadjusted hazard ratio [HR], 0.62; P <.001 and HR, 0.90; P =.03, respectively) and malignancy (HR, 0.68; P =.008 and HR, 0.77; P =.004, respectively). Small-duct PSC was associated with a lower risk of LTD or malignancy compared with classic PSC (HR, 0.30 and HR, 0.15, respectively; both P <.001). Female sex was also associated with a lower risk of LTD or malignancy (HR, 0.88; P =.002 and HR, 0.68; P <.001, respectively). In multivariable analyses assessing the primary endpoint, small-duct PSC characterized a low-risk phenotype in both sexes (adjusted HR for men, 0.23; P <.001 and adjusted HR for women, 0.48; P =.003). Conversely, patients with ulcerative colitis had an increased risk of liver disease progression compared with patients with Crohn's disease (HR, 1.56; P <.001) or no IBD (HR, 1.15; P =.002). CONCLUSIONS: In an analysis of data from individual patients with PSC worldwide, we found significant variation in clinical course associated with age at diagnosis, sex, and ductal and IBD subtypes. The survival estimates provided might be used to estimate risk levels for patients with PSC and select patients for clinical trials.
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| 67. |
- Yan, Lin, et al.
(author)
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Helium-rich Superluminous Supernovae from the Zwicky Transient Facility
- 2020
-
In: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8205 .- 2041-8213. ; 902:1
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Journal article (peer-reviewed)abstract
- Helium is expected to be present in the massive ejecta of some hydrogen-poor superluminous supernovae (SLSN-I). However, until now only one event has been identified with He features in its photospheric spectra (PTF10hgi). We present the discovery of a new He-rich SLSN-I, ZTF19aawfbtg (SN2019hge), atz = 0.0866. This event has more than 10 optical spectra at phases from -41 to +103 days relative to the peak, most of which match well with that of PTF10hgi. Confirmation comes from a near-IR spectrum taken at +34 days, revealing Heifeatures with P-Cygni profiles at 1.083 and 2.058 mu m. Using the optical spectra of PTF10hgi and SN2019hge as templates, we examined 70 other SLSNe-I discovered by Zwicky Transient Facility in the first two years of operation and found five additional SLSNe-I with distinct He-features. The excitation of Heiatoms in normal core-collapse supernovae requires nonthermal radiation, as proposed by previous studies. These He-rich events cannot be explained by the traditional(56)Ni mixing model because of their blue spectra, high peak luminosities, and long rise timescales. Magnetar models offer a possible solution since pulsar winds naturally generate high-energy particles, potential sources of nonthermal excitation. An alternative model is the interaction between the ejecta and dense H-poor circumstellar material, which may be supported by observed undulations in the light curves. These six SLSNe-Ib have relatively low-peak luminosities (rest frameM(g) = -20.06 0.16).
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| 68. |
- Beulens, J. W. J., et al.
(author)
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Alcohol consumption and risk of type 2 diabetes in European men and women : influence of beverage type and body size The EPIC-InterAct study
- 2012
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In: Journal of Internal Medicine. - : Wiley-Blackwell. - 0954-6820 .- 1365-2796. ; 272:4, s. 358-370
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Journal article (peer-reviewed)abstract
- Objective: To investigate the association between alcohol consumption and type 2 diabetes, and determine whether this is modified by sex, body mass index (BMI) and beverage type. Design: Multicentre prospective casecohort study. Setting: Eight countries from the European Prospective Investigation into Cancer and Nutrition cohort. Subjects: A representative baseline sample of 16 154 participants and 12 403 incident cases of type 2 diabetes. Interventions: Alcohol consumption assessed using validated dietary questionnaires. Main outcome measures: Occurrence of type 2 diabetes based on multiple sources (mainly self-reports), verified against medical information. Results: Amongst men, moderate alcohol consumption was nonsignificantly associated with a lower incidence of diabetes with a hazard ratio (HR) of 0.90 (95% CI: 0.781.05) for 6.112.0 versus 0.16.0 g day-1, adjusted for dietary and diabetes risk factors. However, the lowest risk was observed at higher intakes of 24.196.0 g day-1 with an HR of 0.86 (95% CI: 0.750.98). Amongst women, moderate alcohol consumption was associated with a lower incidence of diabetes with a hazard ratio of 0.82 (95% CI: 0.720.92) for 6.112.0 g day-1 (P interaction gender <0.01). The inverse association between alcohol consumption and diabetes was more pronounced amongst overweight (BMI = 25 kg m-2) than normal-weight men and women (P interaction < 0.05). Adjusting for waist and hip circumference did not alter the results for men, but attenuated the association for women (HR=0.90, 95% CI: 0.791.03 for 6.112.0 g day-1). Wine consumption for men and fortified wine consumption for women were most strongly associated with a reduced risk of diabetes. Conclusions: The results of this study show that moderate alcohol consumption is associated with a lower risk of type 2 diabetes amongst women only. However, this risk reduction is in part explained by fat distribution. The relation between alcohol consumption and type 2 diabetes was stronger for overweight than normal-weight women and men.
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| 69. |
- Falster, Daniel, et al.
(author)
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AusTraits, a curated plant trait database for the Australian flora
- 2021
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In: Scientific Data. - : Nature Portfolio. - 2052-4463. ; 8:1
-
Journal article (peer-reviewed)abstract
- We introduce the AusTraits database - a compilation of values of plant traits for taxa in the Australian flora (hereafter AusTraits). AusTraits synthesises data on 448 traits across 28,640 taxa from field campaigns, published literature, taxonomic monographs, and individual taxon descriptions. Traits vary in scope from physiological measures of performance (e.g. photosynthetic gas exchange, water-use efficiency) to morphological attributes (e.g. leaf area, seed mass, plant height) which link to aspects of ecological variation. AusTraits contains curated and harmonised individual- and species-level measurements coupled to, where available, contextual information on site properties and experimental conditions. This article provides information on version 3.0.2 of AusTraits which contains data for 997,808 trait-by-taxon combinations. We envision AusTraits as an ongoing collaborative initiative for easily archiving and sharing trait data, which also provides a template for other national or regional initiatives globally to fill persistent gaps in trait knowledge.
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| 70. |
- Fiore, A., et al.
(author)
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SN 2017gci : a nearby Type I Superluminous Supernova with a bumpy tail
- 2021
-
In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 502:2, s. 2120-2139
-
Journal article (peer-reviewed)abstract
- We present and discuss the optical spectrophotometric observations of the nearby (z = 0.087) Type I superluminous supernova (SLSN I) SN 2017gci, whose peak K-corrected absolute magnitude reaches M-g = -21.5 mag. Its photometric and spectroscopic evolution includes features of both slow- and of fast-evolving SLSN I, thus favoring a continuum distribution between the two SLSN-I subclasses. In particular, similarly to other SLSNe I, the multiband light curves (LCs) of SN 2017gci show two re-brightenings at about 103 and 142 d after the maximum light. Interestingly, this broadly agrees with a broad emission feature emerging around 6520 angstrom after similar to 51 d from the maximum light, which is followed by a sharp knee in the LC. If we interpret this feature as H alpha, this could support the fact that the bumps are the signature of late interactions of the ejecta with a (hydrogen-rich) circumstellar material. Then we fitted magnetar- and CSM-interaction-powered synthetic LCs on to the bolometric one of SN 2017gci. In the magnetar case, the fit suggests a polar magnetic field B-p similar or equal to 6 x 10(14) G, an initial period of the magnetar P-initial similar or equal to 2.8 ms, an ejecta mass M-ejecta similar or equal to 9M(circle dot) and an ejecta opacity kappa similar or equal to 0.08 cm(2) g(-1). A CSM-interaction scenario would imply a CSM mass similar or equal to 5 M-circle dot and an ejecta mass similar or equal to 12M(circle dot). Finally, the nebular spectrum of phase + 187 d was modeled, deriving a mass of similar or equal to 10 M-circle dot for the ejecta. Our models suggest that either a magnetar or CSM interaction might be the power sources for SN 2017gci and that its progenitor was a massive (40 M-circle dot) star.
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