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.

An information accountability perspective to eHealth security and privacy

Rigid security boundaries hinder the proliferation of eHealth. Through active audit logs, accountable-eHealth systems alleviate privacy concerns and enhance information availability.

Competition for aid and trade policy

This paper considers the optimal allocation of a given amount of foreign aid between two recipient countries. It is shown that, given consumer preferences, a country following a more restrictive trade policy would receive a smaller share of the aid if the donor country maximises its own welfare in allocating aid. If, on the other hand, the donor country allocates aid in order to maximize the sum of the welfare of the two recipient countries, the result is just the opposite. Finally, we analyze the situation where the recipient countries compete with each other for the given amount of aid. It is shown that this competition tends to lower the level of optimal tariffs in the recipient countries.

Non-resident workers: A comparison of family support services for resource, health, and defence communities

Non-resident workforces experience high labour turnover, which has an impact on organisational operations and affects worker satisfaction and, in turn, partners’ ability to cope with work-related absences. Research suggests that partner satisfaction may be increased by providing a range of support services, which include professional, practical, and social support. A search was conducted to identify support available for resources and health-industry non-resident workers. These were compared to the supports available to families of deployed defence personnel. They were used to compare and contrast the spread available for each industry. The resources industry primarily provided social support, and lacked an inclusion of professional and practical supports. Health-professional support services were largely directed towards extended locum support, rather than to Fly-In Fly-Out workers. Improving sources of support which parallel support provided to the Australian Defence Force is suggested as a way to increase partner satisfaction. The implications are to understand the level of uptake, perceived importance, and utilisation of such support services.

Ageing and learning in Australia: Arguing an evidence base for informed and equitable policy

Given Australia’s population ageing and predicted impacts related to health, productivity, equity and enhancing quality of life outcomes for senior Australians, lifelong learning has been identified as a pathway for addressing the risks associated with an ageing population. To date Australian governments have paid little attention to addressing these needs and thus, there is an urgent need for policy development for lifelong learning as a national priority. The purpose of this article is to explore the current lifelong learning context in Australia and to propose a set of factors that are most likely to impact learning in later years.