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- Chen, Zhishan, et al.
(författare)
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Fine-mapping analysis including over 254 000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
- 2024
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 15:1
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
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- Corazzini, Kirsten N., et al.
(författare)
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Toward Common Data Elements for International Research in Long-term Care Homes : Advancing Person-Centered Care
- 2019
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Ingår i: Journal of the American Medical Directors Association. - : Elsevier. - 1525-8610 .- 1538-9375. ; 20:5, s. 598-603
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Tidskriftsartikel (refereegranskat)abstract
- To support person-centered, residential long-term care internationally, a consortium of researchers in medicine, nursing, behavioral, and social sciences from 21 geographically and economically diverse countries have launched the WE-THRIVE consortium to develop a common data infrastructure. WE-THRIVE aims to identify measurement domains that are internationally relevant, including in low-, middle-, and high-income countries, prioritize concepts to operationalize domains, and specify a set of data elements to measure concepts that can be used across studies for data sharing and comparisons. This article reports findings from consortium meetings at the 2016 meeting of the Gerontological Society of America and the 2017 meeting of the International Association of Gerontology and Geriatrics, to identify domains and prioritize concepts, following best practices to identify common data elements (CDEs) that were developed through the US National Institutes of Health/National Institute of Nursing Research's CDEs initiative. Four domains were identified, including organizational context, workforce and staffing, person-centered care, and care outcomes. Using a nominal group process, WE-THRIVE prioritized 21 concepts across the 4 domains. Several concepts showed similarity to existing measurement structures, whereas others differed. Conceptual similarity (convergence; eg, concepts in the care outcomes domain of functional level and harm-free care) provides further support of the critical foundational work in LTC measurement endorsed and implemented by regulatory bodies. Different concepts (divergence; eg, concepts in the person-centered care domain of knowing the person and what matters most to the person) highlights current gaps in measurement efforts and is consistent with WE-THRIVE's focus on supporting resilience and thriving for residents, family, and staff. In alignment with the World Health Organization's call for comparative measurement work for health systems change, WE-THRIVE's work to date highlights the benefits of engaging with diverse LTC researchers, including those in low-, middle-, and high-income countries, to develop a measurement infrastructure that integrates the aspirations of person-centered LTC.
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- Siegel, Elena O., et al.
(författare)
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Understanding Contextual Differences in Residential LTC Provision for Cross-National Research : Identifying Internationally Relevant CDEs
- 2019
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Ingår i: Gerontology and geriatric medicine. - : Sage Publications. - 2333-7214. ; 5, s. 1-8
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Forskningsöversikt (refereegranskat)abstract
- Long-term care (LTC) reflects a growing emphasis on person-centered care (PCC), with services oriented around individuals' needs and preferences. Addressing contextual and cultural differences across countries offers important insight into factors that facilitate or hinder application of PCC practices within and across countries. This article takes an international lens to consider country-specific contexts of LTC, describing preliminary steps to develop common data elements that capture contextual differences across LTC settings globally. Through an iterative series of online, telephone, and in-person sessions, we engaged in in-depth discussions with 11 colleague experts in residential LTC and coauthors from six countries (China and Hong Kong, England, Sweden, Thailand, Trinidad and Tobago, and the United States). Our discussions yielded rich narrative describing a vast range in types of LTC settings, leading to our development of a working definition of residential LTC. Scope of services, funding, ownership, and regulations varied greatly across countries and across different residential LTC settings within countries. Moving forward, we recommend expanding our activities to countries that reflect different stages of residential LTC development. Our goal is to contribute to a larger initiative underway by the WE-THRIVE consortium to establish a global research measurement infrastructure that advances PCC internationally.
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