8 research outputs found
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans
Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have
fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in
25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16
regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of
correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP,
while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in
Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium
(LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region.
Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant
enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the
refined data for existing association signals, we estimate that these loci now explain âŒ38.9% of the familial relative risk of PrCa,
an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of
PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent
signals within the same regio
Improving disclosure and consent: "is it safe?": new ethics for reporting personal exposures to environmental chemicals.
The recent flood of research concerning pollutants in personal environmental and biological samples-blood, urine, breastmilk, household dust and air, umbilical cord blood, and other media-raises questions about whether and how to report results to individual study participants. Clinical medicine provides an expert-driven framework, whereas community-based participatory research emphasizes participants' right to know and the potential to inform action even when health effects are uncertain. Activist efforts offer other models. We consider ethical issues involved in the decision to report individual results in exposure studies and what information should be included. Our discussion is informed by our experience with 120 women in a study of 89 pollutants in homes and by interviews with other researchers and institutional review board staff
Radionuclide and stable elements in flora from Australian arid environments
Dataset made available per the CC BY 4.0 Creative Commons Attribution 4.0 International license https://creativecommons.org/licenses/by/4.0/Radiological impact assessments are an important tool for energy and resources industries and government safety regulators to assist in the protection of wildlife diversity, especially native species. Evaluations of radiological impacts to flora in the arid regions of Australia are currently based on international models that use predominately Northern Hemisphere data, with very limited Australian-specific data. This creates a degree of uncertainty in communicating the potential impact of relevant Australian assessments. The project aims to build an improved understanding of radionuclide concentration ratios and radionuclide pathways in arid Australian conditions and are expected to inform assessments in similar environmental conditions elsewhere. The dataset contains measurement of stable elements and radionuclides in soils and plants that were obtained from three regions in South Australia: Flinders Ranges, Pernatty and Roxby Downs region. Access to Australian specific data for use in radiological impact models provide a better understanding and more credible environmental impact assessment process based on more relevant local information
Telling stories and adding scores: Measuring resilience in young children affected by maternal HIV and AIDS
âTelling stories and adding scores: Measuring resilience in young children affected by maternal HIV and AIDSâ,
demonstrates how a concurrent mixed method design assisted cross-cultural comparison and ecological
descriptions of resilience in young South African children, as well as validated alternative ways to measure
resilience in young children. In a longitudinal randomised control trial, which investigated psychological resilience
in mothers and children affected by HIV/AIDS, we combined a qualitative projective story-telling technique (DĂŒss
Fable) with quantitative data (Child Behaviour Checklist). The children mostly displayed adaptive resilience-related
behaviours, although maladaptive behaviours were present. Participating children use internal (resolve/agency,
positive future expectations, emotional intelligence) and external protective resources (material resources, positive
institutions) to mediate adaptation. Childrenâs maladaptive behaviours were exacerbated by internal (limited
problem-solving skills, negative emotions) and external risk factors (chronic and cumulative adversity).http://www.tandfonline.com/loi/raar202017-02-20hb201
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Prostate cancer (PrCa) is the most frequently diagnosed male cancer in developed countries. To identify common PrCa susceptibility alleles, we have previously conducted a genome-wide association study in which 541, 129 SNPs were genotyped in 1,854 PrCa cases with clinically detected disease and 1,894 controls. We have now evaluated promising associations in a second stage, in which we genotyped 43,671 SNPs in 3,650 PrCa cases and 3,940 controls, and a third stage, involving an additional 16,229 cases and 14,821 controls from 21 studies. In addition to previously identified loci, we identified a further seven new prostate cancer susceptibility loci on chromosomes 2, 4, 8, 11, and 22 (P=1.6Ă10â8 to P=2.7Ă10â33)