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- Craddock, Nick, et al.
(author)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Journal article (peer-reviewed)abstract
- 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 similar to 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 disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although 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.
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| 3. |
- Eijkemans, Marianne, et al.
(author)
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Physical activity, sedentary behaviour, and childhood asthma: a European collaborative analysis
- 2024
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In: BMJ Open Respiratory Research. - : BMJ PUBLISHING GROUP. - 2052-4439. ; 11:1
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Journal article (peer-reviewed)abstract
- Objectives To investigate the associations of physical activity (PA) and sedentary behaviour in early childhood with asthma and reduced lung function in later childhood within a large collaborative study.Design Pooling of longitudinal data from collaborating birth cohorts using meta-analysis of separate cohort-specific estimates and analysis of individual participant data of all cohorts combined.Setting Children aged 0-18 years from 26 European birth cohorts.Participants 136 071 individual children from 26 cohorts, with information on PA and/or sedentary behaviour in early childhood and asthma assessment in later childhood.Main outcome measure Questionnaire-based current asthma and lung function measured by spirometry (forced expiratory volume in 1 s (FEV1), FEV1/forced vital capacity) at age 6-18 years.Results Questionnaire-based and accelerometry-based PA and sedentary behaviour at age 3-5 years was not associated with asthma at age 6-18 years (PA in hours/day adjusted OR 1.01, 95% CI 0.98 to 1.04; sedentary behaviour in hours/day adjusted OR 1.03, 95% CI 0.99 to 1.07). PA was not associated with lung function at any age. Analyses of sedentary behaviour and lung function showed inconsistent results.Conclusions Reduced PA and increased sedentary behaviour before 6 years of age were not associated with the presence of asthma later in childhood.
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| 4. |
- Roberts, Russell, et al.
(author)
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International declaration on rural mental health research : 10 guiding principles and standards
- 2024
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In: The Australian journal of rural health. - : John Wiley & Sons. - 1038-5282 .- 1440-1584. ; 32:4, s. 611-616
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Journal article (other academic/artistic)abstract
- Rural communities have unique mental health needs and challenges which are often related to the uniqueness of the community itself. On a per-capita basis, the investment in rural mental health research is far less than that in urban communities. Added to this, rural communities are often at risk of researchers, based in large urban universities, visiting, conducting the research with minimal engagement with local stakeholders and limited understanding of the community's social-service-environmental context. Often this research leaves no visible benefit to the community with respect to increased knowledge, resources or community capacity. This commentary is based on the insights of a panel of authors from 9 countries, each with extensive experience of rural mental health research and work. And it seeks to stimulate the discourse on responsible rural mental health practice. The aim of this commentary is to provide a reference on research practice for novice and experienced researchers on rural mental health research and practice, to assist policymakers, government and funding bodies to establish appropriate standards and guidelines for rural mental health research, and support rural communities to advocate for equity of funding and sustainable research as they engage with researchers, funders and governments. The 10 standards in this declaration will help guide researchers toward research that is beneficial to rural communities and also help develop the local community's research capability, which ultimately will serve to enhance the mental health and well-being of rural communities.
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