737 research outputs found

    The Quantitative-MFG Test: A linear mixed effect model to detect maternal-offspring gene interactions

    Get PDF
    Maternal-offspring gene interactions, aka maternal-fetal genotype (MFG) incompatibilities, are neglected in complex diseases and quantitative trait studies. They are implicated in birth to adult onset diseases but there are limited ways to investigate their influence on quantitative traits. We present the Quantitative-MFG (QMFG) test, a linear mixed model where maternal and offspring genotypes are fixed effects and residual correlations between family members are random effects. The QMFG handles families of any size, common or general scenarios of MFG incompatibility, and additional covariates. We develop likelihood ratio tests (LRTs) and rapid score tests and show they provide correct inference. In addition, the LRT’s alternative model provides unbiased parameter estimates. We show that testing the association of SNPs by fitting a standard model, which only considers the offspring genotypes, has very low power or can lead to incorrect conclusions. We also show that offspring genetic effects are missed if the MFG modeling assumptions are too restrictive. With GWAS data from the San Antonio Family Heart Study, we demonstrate that the QMFG score test is an effective and rapid screening tool. The QMFG test therefore has important potential to identify pathways of complex diseases for which the genetic etiology remains to be discovered

    Cryptic marine barriers to gene flow in a vulnerable coastal species, the dugong (Dugong dugon)

    Get PDF
    Despite the lack of obvious physical barriers and their ability to travel significant distances, many marine mammals exhibit substantial population structuring over relatively short geographical distances. The dugong (Dugong dugon), the only extant representative of family Dugongidae, is listed as Vulnerable to Extinction globally. We investigated the genetic population structure of dugongs in the shallow coastal waters along >2,000 km of the eastern Queensland coast, including the Great Barrier Reef region. Microsatellite genotypes for 22 loci in 293 dugongs, SNP genotypes based on 10,690 loci in 43 dugongs, and 410 bp mitochondrial control-region sequences from 639 dugongs were analyzed. Clustering analysis techniques consistently identified an abrupt genetic break in the Whitsunday Islands region (20.3°S), which interrupts an overall pattern of isolation-by-distance. Geographic distance was relatively more important than sea-surface temperature and seagrass distribution in explaining pairwise microsatellite genetic distances. The cause of reduced dispersal across this region is unknown but might relate to an unusual tidal and current mix, termed the “sticky-water” effect, and/or a break in the geographical distribution of off-shore seagrass meadows. The genetic structure suggests distinct breeding units north and south of the Whitsunday Islands region for consideration in further developing management plans for Queensland dugongs

    Remote sensing data from CLARET: A prototype CART data set

    Get PDF
    The data set containing radiation, meteorological , and cloud sensor observations is documented. It was prepared for use by the Department of Energy's Atmospheric Radiation Measurement (ARM) Program and other interested scientists. These data are a precursor of the types of data that ARM Cloud And Radiation Testbed (CART) sites will provide. The data are from the Cloud Lidar And Radar Exploratory Test (CLARET) conducted by the Wave Propagation Laboratory during autumn 1989 in the Denver-Boulder area of Colorado primarily for the purpose of developing new cloud-sensing techniques on cirrus. After becoming aware of the experiment, ARM scientists requested archival of subsets of the data to assist in the developing ARM program. Five CLARET cases were selected: two with cirrus, one with stratus, one with mixed-phase clouds, and one with clear skies. Satellite data from the stratus case and one cirrus case were analyzed for statistics on cloud cover and top height. The main body of the selected data are available on diskette from the Wave Propagation Laboratory or Los Alamos National Laboratory

    Troubling meanings of "family" for young people who have been in care: from policy to lived experience

    Get PDF
    This article seeks to trouble the concept of “family” for young people who have been in out-of-home care, by reflecting on the continuing significance (and troubles) of family relationships beyond childhood. The analysis draws on two cross-national studies in Europe: Beyond Contact, which examined policies and systems for work with families of children in care, and Against All Odds?, a qualitative longitudinal study of young adults who have been in care. Policy discourses that reify and instrumentalize the concept of family—for example, through the language of “contact,” “reunification,” and “permanence”—neglect the complex temporality of “family” for young people who have been in care, negotiated and practiced across time and in multiple (and changing) care contexts, and forming part of complex, dynamic and relational identities, and understandings of “belonging” for young adults who have been in care

    The challenge of enterprise/innovation: a case study of a modern university

    Get PDF
    In the prevailing economic and political climate for Higher Education a greater emphasis has been placed on diversifying the funding base. The present study was undertaken between 2012 and 2014 and addressed the implementation of an approach to the transformation of one academic school in a medium-sized modern university in Wales to a more engaged enterprise culture. A multimethod investigation included a bi-lingual (English and Welsh) online survey of academic staff and yielded a 71% response rate (n = 45). The findings informed a series of in-depth interviews (n = 24) with a representative sample of those involved in enterprise work (support staff, managers, senior managers), and those who were not. The results provided the platform for the ‘S4E model’ for effective engagement with enterprise: (1) Strategic significance for Enterprise, (2) Support for Enterprise, (3) Synergy for Enterprise, and (4) Success for Enterprise. The outcomes of the research and the recommendations from it have potential to inform practice in other academic schools within the university and, in a wider context, within other Schools of Education regionally, nationally and internationally. Its original empirical exploration of enterprise within education studies is a significant contribution to that body of knowledge

    Ancient convergent losses of Paraoxonase 1 yield potential risks for modern marine mammals

    Get PDF
    Mammals diversified by colonizing drastically different environments, with each transition yielding numerous molecular changes, including losses of protein function. Though not initially deleterious, these losses could subsequently carry deleterious pleiotropic consequences. We have used phylogenetic methods to identify convergent functional losses across independent marine mammal lineages. In one extreme case, Paraoxonase 1 (PON1) accrued lesions in all marine lineages, while remaining intact in all terrestrial mammals. These lesions coincide with PON1 enzymatic activity loss in marine species’ blood plasma. This convergent loss is likely explained by parallel shifts in marine ancestors’ lipid metabolism and/or bloodstream oxidative environment affecting PON1’s role in fatty acid oxidation. PON1 loss also eliminates marine mammals’ main defense against neurotoxicity from specific man-made organophosphorus compounds, implying potential risks in modern environment

    Targeted prevention of common mental health disorders in university students: randomised controlled trial of a transdiagnostic trait-focused web-based intervention

    Get PDF
    Background: A large proportion of university students show symptoms of common mental disorders, such as depression, anxiety, substance use disorders and eating disorders. Novel interventions are required that target underlying factors of multiple disorders.<p></p> Aims: To evaluate the efficacy of a transdiagnostic trait-focused web-based intervention aimed at reducing symptoms of common mental disorders in university students.<p></p> Method: Students were recruited online (n = 1047, age: M = 21.8, SD = 4.2) and categorised into being at high or low risk for mental disorders based on their personality traits. Participants were allocated to a cognitive-behavioural trait-focused (n = 519) or a control intervention (n = 528) using computerised simple randomisation. Both interventions were fully automated and delivered online (trial registration: ISRCTN14342225). Participants were blinded and outcomes were self-assessed at baseline, at 6 weeks and at 12 weeks after registration. Primary outcomes were current depression and anxiety, assessed on the Patient Health Questionnaire (PHQ9) and Generalised Anxiety Disorder Scale (GAD7). Secondary outcome measures focused on alcohol use, disordered eating, and other outcomes.<p></p> Results: Students at high risk were successfully identified using personality indicators and reported poorer mental health. A total of 520 students completed the 6-week follow-up and 401 students completed the 12-week follow-up. Attrition was high across intervention groups, but comparable to other web-based interventions. Mixed effects analyses revealed that at 12-week follow up the trait-focused intervention reduced depression scores by 3.58 (p<.001, 95%CI [5.19, 1.98]) and anxiety scores by 2.87 (p = .018, 95%CI [1.31, 4.43]) in students at high risk. In high-risk students, between group effect sizes were 0.58 (depression) and 0.42 (anxiety). In addition, self-esteem was improved. No changes were observed regarding the use of alcohol or disordered eating.<p></p> Conclusions This study suggests that a transdiagnostic web-based intervention for university students targeting underlying personality risk factors may be a promising way of preventing common mental disorders with a low-intensity intervention
    corecore