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- Kottyan, Leah C., et al.
(författare)
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The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
- 2015
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:2, s. 582-596
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Tidskriftsartikel (refereegranskat)abstract
- Exploiting genotyping, DNA sequencing, imputation and trans-ancestral mapping, we used Bayesian and frequentist approaches to model the IRF5-TNPO3 locus association, now implicated in two immunotherapies and seven autoimmune diseases. Specifically, in systemic lupus erythematosus (SLE), we resolved separate associations in the IRF5 promoter (all ancestries) and with an extended European haplotype. We captured 3230 IRF5-TNPO3 high-quality, common variants across 5 ethnicities in 8395 SLE cases and 7367 controls. The genetic effect from the IRF5 promoter can be explained by any one of four variants in 5.7 kb (P-valuemeta = 6 × 10(-49); OR = 1.38-1.97). The second genetic effect spanned an 85.5-kb, 24-variant haplotype that included the genes IRF5 and TNPO3 (P-valuesEU = 10(-27)-10(-32), OR = 1.7-1.81). Many variants at the IRF5 locus with previously assigned biological function are not members of either final credible set of potential causal variants identified herein. In addition to the known biologically functional variants, we demonstrated that the risk allele of rs4728142, a variant in the promoter among the lowest frequentist probability and highest Bayesian posterior probability, was correlated with IRF5 expression and differentially binds the transcription factor ZBTB3. Our analytical strategy provides a novel framework for future studies aimed at dissecting etiological genetic effects. Finally, both SLE elements of the statistical model appear to operate in Sjögrens syndrome and systemic sclerosis whereas only the IRF5-TNPO3 gene-spanning haplotype is associated with primary biliary cirrhosis, demonstrating the nuance of similarity and difference in autoimmune disease risk mechanisms at IRF5-TNPO3.
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| 2. |
- Noble, Daniel W.A., et al.
(författare)
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Data Descriptor : A comprehensive database of thermal developmental plasticity in reptiles
- 2018
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Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- How temperature influences development has direct relevance to ascertaining the impact of climate change on natural populations. Reptiles have served as empirical models for understanding how the environment experienced by embryos can influence phenotypic variation, including sex ratio, phenology and survival. Such an understanding has important implications for basic eco-evolutionary theory and conservation efforts worldwide. While there is a burgeoning empirical literature of experimental manipulations of embryonic thermal environments, addressing widespread patterns at a comparative level has been hampered by the lack of accessible data in a format that is amendable to updates as new studies emerge. Here, we describe a database with nearly 10, 000 phenotypic estimates from 155 species of reptile, collected from 300 studies manipulating incubation temperature (published between 1974-2016). The data encompass various morphological, physiological, behavioural and performance traits along with growth rates, developmental timing, sex ratio and survival (e.g., hatching success). This resource will serve as an important data repository for addressing overarching questions about thermal plasticity of reptile embryos.
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| 4. |
- Vaughn, L. M., et al.
(författare)
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Partnering with insiders: A review of peer models across community-engaged research, education and social care
- 2018
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Ingår i: Health & Social Care in the Community. - : Hindawi Limited. - 0966-0410. ; 26:6, s. 769-786
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Tidskriftsartikel (refereegranskat)abstract
- Within community-engaged research, education and social care, peer models that partner with local "insiders" are increasingly common. Peer models are composed of insider "lay" community members who often share similarities or background with a project's target population. Peers are not academically trained, but work alongside researchers and professionals to carry out specific tasks within a project, or in the truest sense of partnership, peers collaborate throughout the project from start to finish as an equal member of the team. Although peer models are used widely, the literature lacks consistency and clarity. This systematic review of literature used a qualitative thematic synthesis to examine and report how, where and why peer models have been used in research, education and social care. We examined the language and titles used to describe the peers, details of their involvement in community-engaged projects, the setting, content/topic of study, level of engagement and related benefits/outcomes of such models. Focusing on the last 10 years, we conducted a comprehensive literature search twice between September 2016 and June 2017. The search resulted in 814 articles which were assessed for eligibility. Overall, 251 articles met our inclusion criteria and were categorised into three categories: empirical (n = 115); process/descriptive (n = 93); and "about" peers (n = 43). Findings suggest that there is a wide variety of peers, titles and terminology associated with peer models. There is inconsistency in how these models are used and implemented in research studies and projects. The majority of articles used an employment peer model, while only a handful involved peers in all phases of the project. The results of this literature review contribute to understanding the use, development and evolution of peer models. We highlight potential benefits of peer models for peers, their communities and community-engaged work, and we offer recommendations for future implementation of peer models.
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