1,541 research outputs found
Health status and 6 years survival of 552 90+ Italian sib-ships recruited within the EU Project GEHA (GEnetics of Healthy Ageing).
No full textIn a scenario of increasing life expectancy worldwide, it is mandatory to identify the characteristics of a healthy aging phenotype, including survival predictors, and to disentangle those related to environment/lifestyle versus those related to familiarity/genetics. To this aim we comprehensively characterised a cohort of 1,160 Italian subjects of 90 years and over (90+, mean age 93 years; age range 90-106 years) followed for 6 years survival, belonging to 552 sib-ships (familiar longevity) recruited (2005-2008) within the EU-funded GEHA project in three Italian geographic areas (Northern, Central and Southern Italy) different for urban/rural and socio-economical characteristics. On the whole, the following factors emerged as significant predictors of survival after 90 years of age: absence of cognitive impairment and physical disability, high hand grip strength scores and body mass index (BMI) values, "excellent/good" self-reported health, high haemoglobin and total cholesterol levels and low creatinine levels. These parameters, excluding BMI values, were also significantly associated within sib-ships, suggesting a strong familial/genetic component. Geographical micro-heterogeneity of survival predictors emerged, such as functional and physical status being more important in Southern than in Central and Northern Italy. In conclusion, we identified modifiable survival predictors related to specific domains, whose role and importance vary according to the geographic area considered and which can help in interpreting the genetic results obtained by the GEHA project, whose major aim is the comprehensive evaluation of phenotypic and genetic data
Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project
No full textIn 2004, the integrated European project GEHA (Genetics of Healthy Ageing) was initiated with the aim of identifying genes involved in healthy ageing and longevity. The first step in the project was the recruitment of more than 2500 pairs of siblings aged 90 years or more together with one younger control person from 15 areas in 11 European countries through a coordinated and standardised effort. A biological sample, preferably a blood sample, was collected from each participant, and basic physical and cognitive measures were obtained together with information about health, life style, and family composition. From 2004 to 2008 a total of 2535 families comprising 5319 nonagenarian siblings were identified and included in the project. In addition, 2548 younger control persons aged 50-75 years were recruited. A total of 2249 complete trios with blood samples from at least two old siblings and the younger control were formed and are available for genetic analyses (e.g. linkage studies and genome-wide association studies). Mortality follow-up improves the possibility of identifying families with the most extreme longevity phenotypes. With a mean follow-up time of 3.7 years the number of families with all participating siblings aged 95 years or more has increased by a factor of 5 to 750 families compared to when interviews were conducted. Thus, the GEHA project represents a unique source in the search for genes related to healthy ageing and longevity
Comparing consortial repositories: a model-driven analysis
No full textThis study aims to provide a comparative assessment of different repository consortia as a reference to inform future work in the area. A review of the literature was used to identify repository consortia, and their features were compared. Three models of consortial repositories were derived from this comparison, based on their structure and aims. The consortial models were based around either: creating a shared repository for the members, developing a repository software platform or creating a metadata harvesting service to aggregate content. Using case studies of each type of repository consortium, each model was assessed in terms of its particular strengths and weaknesses. These strengths were then compared across the models to enable those considering a consortial repository project to assess which model, or combination of models, would best address their needs and to aid in project planning
Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes
No full textOnline Correction for: https://doi.org/10.1038/s41586-020-2493-4 | Erratum for https://bura.brunel.ac.uk/handle/2438/21299In the version of this article initially published, two members of the ENCODE Project Consortium were missing from the author list. Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) are now included in the author list. These errors have been corrected in the online version of the article : 'Expanded encyclopaedias of DNA elements in the human and mouse genomes'.https://www.nature.com/articles/s41586-021-04226-3https://www.nature.com/articles/s41586-021-04226-
Author Correction: Perspectives on ENCODE (Nature, (2020), 583, 7818, (693-698), 10.1038/s41586-020-2449-8)
No full textThe Original Article (https://doi.org/10.1038/s41586-020-2449-8) was published on 29 July 2020.Copyright © The Authors 2022. In this Article, the authors Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) were mistakenly omitted from the ENCODE Project Consortium author list. The original Article has been corrected online
Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project
No full textIn 2004, the integrated European project GEHA (Genetics of Healthy Ageing) was initiated with the aim of identifying genes involved in healthy ageing and longevity. The first step in the project was the recruitment of more than 2500 pairs of siblings aged 90 years or more together with one younger control person from 15 areas in 11 European countries through a coordinated and standardised effort. A biological sample, preferably a blood sample, was collected from each participant, and basic physical and cognitive measures were obtained together with information about health, life style, and family composition. From 2004 to 2008 a total of 2535 families comprising 5319 nonagenarian siblings were identified and included in the project. In addition, 2548 younger control persons aged 50-75 years were recruited. A total of 2249 complete trios with blood samples from at least two old siblings and the younger control were formed and are available for genetic analyses (e.g. linkage studies and genome-wide association studies). Mortality follow-up improves the possibility of identifying families with the most extreme longevity phenotypes. With a mean follow-up time of 3.7 years the number of families with all participating siblings aged 95 years or more has increased by a factor of 5 to 750 families compared to when interviews were conducted. Thus, the GEHA project represents a unique source in the search for genes related to healthy ageing and longevity. (C) 2011 Elsevier Inc. All rights reserved
SHui open data research platform
No full textData collected and revised by individual instutions of the Shui-Consortium. Publication by the EU-China Consortium SHui.For each data-file, the author (institution) of the file is given as “operator”.-- At project end, June 30th, 2022.-- For each data-file, the author/data owner for citation is given as “operator” and “contact”.-- Plot data as .csv; catchment data ad libitum.Spatial situation data: Plot data and catchment data available; country, latitude, and longitude coordinates given.-- Temporal situation data: Long-term and single-season data available. Start and end date for each data file given.CC BY-SA. No embargo. The release on the Shui download site and CSIC repository implies expiration of any embargo delivered by the data owner.Project Co-ordinators: Dr. Jose Alfonso Gómez Calero (Instituto de Agricultura Sostenible (IAS-CISC), Dr. Weifeng Xu (Fujian Agriculture and Forest University, FAFU).This data set contains data from the SHui open-data platform for sharing long-term agricultural experiments aimed to optimizing yield and soil and water. Data and additional material are available under https://shui.boku.ac.at/shui/public/startAlphanumeric data measured at hydrologic and agronomical experiments (e.g., plant development, soil properties, hydrology, erosion, management).Further information on the data, project, partners, and publications under https://www.shui-eu.org/EU-China Consortium SHui: European Union Project 773903 and Chinese MOST.Peer reviewe
Perspectives on ENCODE
No full textSupplementary information is available for this paper at https://doi.org/10.1038/s41586-020- 2449-8.Correction to: Nature https://doi.org/10.1038/s41586-020-2449-8published online 29 July 2020.
In this Article, the authors Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) were mistakenly omitted from the ENCODE Project Consortium author list. The original Article has been corrected online.Author Correction: Perspectives on ENCODE (published 22 April 2022: The ENCODE Project Consortium., Snyder, M.P., Gingeras, T.R. et al. (2022) 'Author Correction: Perspectives on ENCODE', Nature, 605, E4. doi: 10.1038/s41586-021-04213-8). Correction to: Nature https://doi.org/10.1038/s41586-020-2449-8published online 29 July 2020.
In this Article, the authors Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) were mistakenly omitted from the ENCODE Project Consortium author list. The original Article has been corrected online.© 2020, The Author(s). The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated with gene regulation (for example, transcription factor binding sites, open chromatin, and histone marks) and transcript isoforms. The marks serve as sites for candidate cis-regulatory elements (cCREs) that may serve functional roles in regulating gene expression1. The project has been extended to model organisms, particularly the mouse. In the third phase of ENCODE, nearly a million and more than 300,000 cCRE annotations have been generated for human and mouse, respectively, and these have provided a valuable resource for the scientific community.NIH grants: U01HG007019, U01HG007033, U01HG007036, U01HG007037, U41HG006992, U41HG006993, U41HG006994, U41HG006995, U41HG006996, U41HG006997, U41HG006998, U41HG006999, U41HG007000, U41HG007001, U41HG007002, U41HG007003, U41HG007234, U54HG006991, U54HG006997, U54HG006998, U54HG007004, U54HG007005, U54HG007010 and UM1HG009442
Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA stud
No full textTissue specific somatic mutations occurring in the mtDNA control region have been proposed to provide a survival advantage. Data on twins and on relatives of long-lived subjects suggested that the occurrence/accumulation of these mutations may be genetically influenced. To further investigate control region somatic heteroplasmy in the elderly, we analyzed the segment surrounding the nt 150 position (previously reported as specific of Leukocytes) in various types of leukocytes obtained from 195 ultra-nonagenarians sib-pairs of Italian or Finnish origin collected in the frame of the GEHA Project. We found a significant correlation of the mtDNA control region heteroplasmy between sibs, confirming a genetic influence on this phenomenon. Furthermore, many subjects showed heteroplasmy due to mutations different from the C150T transition. In these cases heteroplasmy was correlated within sibpairs in Finnish and northern Italian samples, but not in southern Italians. This suggested that the genetic contribution to control region mutations may be population specific. Finally, we observed a possible correlation between heteroplasmy and Hand Grip strength, one of the best markers of physical performance and of mortality risk in the elderly. Our study provides new evidence on the relevance of mtDNA somatic mutations in aging and longevity and confirms that the occurrence of specific point mutations in the mtDNA control region may represent a strategy for the age-related remodelling of organismal functions
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UDC Biology Revision Project: Second Stage: Class 58 Botany
No full textThis text is a brief update on the progress of the revision of biological systematics in UDC that has not had an overall revision for many decades. The first stage of the project, in 2010, included the revision of the taxonomy of vertebrates, and this was completed and published in Extensions and Corrections to the UDC - E&C, 32 (2010). The next stage, completed in 2011, was class 582 Systematic botany, published as the revised table in this issue - E&C, 33 (2011). In this paper, the author of the revised tables provides a brief overview of content organization and presentation in the new schedules and specific information about the revision of Botany
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