Special Libraries, April 1933

Volume 24, Issue 3https://scholarworks.sjsu.edu/sla_sl_1933/1002/thumbnail.jp

Identification of common genetic risk variants for autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe

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

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

Implementing Pollution Source Control—Learning from the Innovation Process in English and Welsh Water Companies

Improving the stimulation and management of innovation by water utilities is a key mechanism through which the challenges of securing sustainable water and wastewater services will be achieved. This paper describes the process of adopting source control interventions (SCIs) by water and sewerage companies (WaSCs) in England and Wales. SCIs can be defined as efforts by water suppliers to control agricultural pollution where it arises. To investigate differences in the extent to which SCIs have and are being adopted across all ten WaSCs in England and Wales, Rogers’ five stage innovation model is used to structure and interpret results from a series of semi-structured interviews with raw water quality and catchment management personnel. Results suggest that to promote SCI innovation by WaSCs, regulation should be designed in two interdependent ways. First, regulation must generate awareness of a performance gap so as to set an agenda for change and initiate innovation. This can be achieved either through direct regulation or regulation which raises the awareness of an organisations performance gap, for example through additional monitoring. Simultaneously, regulation needs to create possibilities for implementation of innovation through enabling WaSCs to utilise SCIs where appropriate. Evidence from the research suggests that appropriate intermediary organisations can assist in this process by providing a resource of relevant and local knowledge and data. Future research should seek to characterise the factors affecting each stage in the WaSC innovation process both to confirm the conclusions of this study and to reveal more detail about various influences on innovation outcomes

Pollution source control by water utilities – characterisation and implications for water management: research results from England and Wales

The treatment of agriculturally polluted water to potable standards is costly for water companies. Changes in agricultural practice can reduce these costs while also meeting the objectives of European Union (EU) environmental legislation. In this paper, the uptake of source control interventions (SCIs) by water and sewage companies in England and Wales as a means of controlling agricultural pollution is investigated. Data were gathered using semistructured interviews with water and sewage company representatives. Interview data were processed using thematic and content analysis. Results showed that SCIs are increasingly being adopted in England and Wales. Of the four types of SCI identified, the so-called ‘Liaison’ type dominated. This type of intervention requires intermediary organisations with local expertise in water catchments. Differences in pollution source control between EU countries, and England and Wales are examined. Evidence indicated that ‘Liaison’ SCI s types may be more prevalent in countries where water supplies are privatised

An organisational innovation perspective on change in water and wastewater systems – the implementation of the Water Framework Directive in England and Wales

This paper presents an assessment of how the European Water Framework Directive (WFD) is stimulating change in water and wastewater management. The paper aims to provide an organisational innovation contribution towards understanding the processes by which policy and legislation stimulate change in water and wastewater systems. Results were produced by analysing interviews with environmental managers from all water and sewerage companies in England and Wales. Results show that integrated water supply approaches are emerging in response to the WFD, while wastewater approaches are not changing to the same extent. Reasons for this difference are located in a mix of factors including: economic regulation; conflicting national and EU regulations; uncertainty; lock-in to infrastructure; the way in which different WaSCs frame business problems and opportunities, and a lack of technological knowledge. Results are discussed against an international review of water sector change and against government reviews of the water sector economic regulator