Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed 19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with diseaseIRGM for Crohns disease, HLA for Crohns disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetesalthough in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases. © 2010 Macmillan Publishers Limited. All rights reserved.

A participative education program to reduce speeding in a group of work-related drivers

A number of intervention approaches have been developed to improve work-related driving safety. However, past interventions have been limited in that they have been data-driven, and have not been developed within a theoretical framework. The aim of this study is to present a theory-driven intervention. Based on the methodology developed by Ludwig and Geller (1991), this study evaluates the effectiveness of a participative education intervention on a group of work-related drivers (n = 28; experimental group n = 19, control n = 9). The results support the effectiveness of the intervention in reducing speeding over a six month period, while a non significant increase was found in the control group. The results of this study have important implications for organisations developing theory-driven interventions designed to improve work-related driving behaviour.

Sex offenders in denial : a study into a group of forensic psychologists' attitudes regarding the corresponding impact upon risk assessment calculations and parole eligibility

A considerable proportion of convicted sex offenders maintain a stance of innocence and thus do not engage in recommended treatment programs. As a result, such offenders are often deemed to have outstanding criminogenic needs which may negatively impact upon risk assessment procedures and parole eligibility. This paper reports on a study that aimed to investigate a group of forensic psychologists’ attitudes regarding the impact of denial on risk assessment ratings as well as parole eligibility. Participants completed a confidential open-ended questionnaire. Analysis indicated that considerable variability exists among forensic psychologists in regards to their beliefs about the origins of denial and what impact such denial should have on post-prison release eligibility. In contrast, there was less disparity regarding beliefs about the percentage of innocent yet incarcerated sex offenders. This paper also reviews current understanding regarding the impact of denial on recidivism as well as upon general forensic assessments.

Genotyping of enterococcus faecalis and enterococcus faecium isolates using a set of eight single nucleotide polymorphisms (SNPs)

A SNP genotyping method was developed for E. faecalis and E. faecium using the 'Minimum SNPs' program. SNP sets were interrogated using allele-specific real-time PCR. SNP-typing sub-divided clonal complexes 2 and 9 of E. faecalis and 17 of E. faecium, members of which cause the majority of nosocomial infections globally.

Narratives of complexity : an ethnographic exploration of resilience and wellbeing among single refugee women in Brisbane

This study aimed to explore resilience and wellbeing among a group of eight refugee women originating from several countries (mainly African) and living in Brisbane, most of whom were single mothers. To challenge mostly quantitative and gender-blind explorations of mental health concepts among refugee groups, the project sought an emic and contextual understanding of resilience and wellbeing. Established perspectives, while useful, tend to overlook the complexities of refugee mental health experiences and can neglect the dense nature of individual stories. The purpose of my study was to contest relatively simplistic narratives of mental health constructs that tend to dominate migrant and refugee studies and influence practice paradigms in the human services field. In this ethnographic exploration of mental health constructs conducted in 2008 and 2009, the use of in-depth interviews, participant observations, and visual ethnographic elements provided an opportunity for refugee women to tell their own stories. The participants’ unique narratives of pre- and post-migration experiences, shaped by specific gender, age, social, cultural and political aspects prevailing in their lives, yielded ‘thick’ ethnographic description (Geertz, 1973) of their social worlds. The findings explored in this study, namely language issues, the impact of community dynamics, and the single status of refugee women, clearly demonstrate that mental health constructs are fluid, multifaceted and complex in reality. In fact, language, community dynamics, and being a single mother, represented both opportunities and barriers in the lives of participants. In some contexts, these factors were conducive to resilience and wellbeing, while in other circumstances, these three elements acted as a hindrance to positive mental health outcomes. There are multiple dimensions to the findings, signifying that the social worlds of refugee women cannot be simplified using set definitions and neat notions of resilience and wellbeing. Instead, the intricacies and complexities embedded in the mundane of the everyday highlight novel conceptualisations of resilience and wellbeing. Based on the particular circumstances of single refugee mothers, whose experiences differ from that of married women, this thesis presents novel articulations of mental health constructs, as an alternative view to existing trends in the literature on refugee issues. Rich and multi-dimensional meanings associated with the socio-cultural determinants of mental health emerged in the process. This thesis’ findings highlight a significant gap in diasporic studies as well as simplistic assumptions about refugee women’s resettlement experiences. Single refugee women’s distinct issues are so complex and dense, that a contextual approach is critical to yield accurate depictions of their circumstances. It is therefore essential to understand refugee lived experiences within broader socio-political contexts to truly appreciate the depth of these narratives. In this manner, critical aspects salient to refugee journeys can inform different understandings of resilience, wellbeing and mental health, and shape contemporary policy and human service practice paradigms.

Efficiency of research performance of Australian universities : a reappraisal using a bootstrap truncated regression approach

The motivation of the study stems from the results reported in the Excellence in Research for Australia (ERA) 2010 report. The report showed that only 12 universities performed research at or above international standards, of which, the Group of Eight (G8) universities filled the top eight spots. While performance of universities was based on number of research outputs, total amount of research income and other quantitative indicators, the measure of efficiency or productivity was not considered. The objectives of this paper are twofold. First, to provide a review of the research performance of 37 Australian universities using the data envelopment analysis (DEA) bootstrap approach of Simar and Wilson (2007). Second, to determine sources of productivity drivers by regressing the efficiency scores against a set of environmental variables.

Performance evaluation of eight contemporary passive solar homes in subtropical Australia

Subtropical south-east Queensland’s expanding population is expected to lead to a demand for an additional 754,000 dwellings by 2031. A legacy of poor housing design, minimal building regulations, an absence of building performance evaluation and various social and market factors has lead to a high and growing penetration of, and reliance on, air conditioners to provide comfort in this relatively benign climate. This reliance impacts on policy goals to adapt to and mitigate against global warming, electricity infrastructure investment and household resilience. Based on the concept of bioclimatic design, this field study scrutinizes eight non-air conditioned homes to develop a deeper understanding of the role of contemporary passive solar architecture in the delivery of thermally comfortable and resilient homes in the subtropics. These homes were found to provide inhabitants with an acceptable level of thermal comfort (18-28oC) for 77 – 97% of the year. Family expectations and experiences of comfort, and the various design strategies utilized were compared against the measured performance outcomes. This comparison revealed issues that limited quantification and implementation of design intent and highlighted factors that constrained system optimisation.

Media education, collaboration and industry : a case study of what a group of year 10 and 11 students value in a community of practice

This case study incorporated an analysis of a group of young people as media producers and placed young people’s perspectives of their media education learning at the core of the analysis. Communities of practice social learning theory provided an effective conceptual framework for investigating the nature of the participants’ involvement in a secondary school and creative industry partnership. The analysis of the data in this study indicated that the participants valued their learning by imagining, actively participating and belonging to a media education community of practice. By enabling young people to work directly with creative industries this school and industry partnership provided students with what they saw as valuable first-hand experience of professional expertise, that contributed to students’ understanding of their own and others’ identities.

Assessment of neuroretinal function in a group of functional amblyopes with documented LGN deficits

Purpose In this study we examine neuroretinal function in five amblyopes, who had been shown in previous functional MRI (fMRI) studies to have compromised function of the lateral geniculate nucleus (LGN), to determine if the fMRI deficit in amblyopia may have its origin at the retinal level. Methods We used slow flash multifocal ERG (mfERG) and compared averaged five ring responses of the amblyopic and fellow eyes across a 35 deg field. Central responses were also assessed over a field which was about 6.3 deg in diameter. We measured central retinal thickness using optical coherence tomography. Central fields were measured using the MP1-Microperimeter which also assesses ocular fixation during perimetry. MfERG data were compared with fMRI results from a previous study. Results Amblyopic eyes had reduced response density amplitudes (first major negative to first positive (N1-P1) responses) for the central and paracentral retina (up to 18 deg diameter) but not for the mid-periphery (from 18 to 35 deg). Retinal thickness was within normal limits for all eyes, and not different between amblyopic and fellow eyes. Fixation was maintained within the central 4° more than 80% of the time by four of the five participants; fixation assessed using bivariate contour ellipse areas (BCEA) gave rankings similar to those of the MP-1 system. There was no significant relationship between BCEA and mfERG response for either amblyopic or fellow eye. There was no significant relationship between the central mfERG eye response difference and the selective blood oxygen level dependent (BOLD) LGN eye response difference previously seen in these participants. Conclusions Retinal responses in amblyopes can be reduced within the central field without an obvious anatomical basis. Additionally, this retinal deficit may not be the reason why the LGN BOLD (blood oxygen level dependent) responses are reduced for amblyopic eye stimulation.