ORCID Profile
0000-0002-0338-9651
Current Organisations
Juntendo University
,
Lund University
,
Charles Darwin University
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Publisher: ANU Press
Date: 20-09-2021
DOI: 10.22459/LN.2021
Publisher: American Physiological Society
Date: 03-2016
DOI: 10.1152/PHYSIOLGENOMICS.00105.2015
Abstract: Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition, and elite/world-class athletic status, there has been limited progress to date. Past reliance on candidate gene studies predominantly focusing on genotyping a limited number of single nucleotide polymorphisms or the insertion/deletion variants in small, often heterogeneous cohorts (i.e., made up of athletes of quite different sport specialties) have not generated the kind of results that could offer solid opportunities to bridge the gap between basic research in exercise sciences and deliverables in biomedicine. A retrospective view of genetic association studies with complex disease traits indicates that transition to hypothesis-free genome-wide approaches will be more fruitful. In studies of complex disease, it is well recognized that the magnitude of genetic association is often smaller than initially anticipated, and, as such, large s le sizes are required to identify the gene effects robustly. A symposium was held in Athens and on the Greek island of Santorini from 14–17 May 2015 to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium also offered a forum for the development of a position stand (the Santorini Declaration). Among the participants, many were involved in ongoing collaborative studies (e.g., ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE). A consensus emerged among participants that it would be advantageous to bring together all current studies and those recently launched into one new large collaborative initiative, which was subsequently named the Athlome Project Consortium.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 05-2013
Publisher: S. Karger AG
Date: 2016
DOI: 10.1159/000445241
Abstract: Despite numerous attempts to discover genetic variants associated with elite athletic performance, an in idual's trainability and injury predisposition, there has been limited progress to date. Past reliance on candidate gene studies focusing predominantly on genotyping a limited number of genetic variants in small, often heterogeneous cohorts has not generated results of practical significance. Hypothesis-free genome-wide approaches will in the future provide more comprehensive coverage and in-depth understanding of the biology underlying sports-related traits and related genetic mechanisms. Large, collaborative projects with sound experimental designs (e.g. clearly defined phenotypes, considerations and controls for sources of variability, and necessary replications) are required to produce meaningful results, especially when a hypothesis-free approach is used. It remains to be determined whether the novel approaches under current implementation will result in findings with real practical significance. This review will briefly summarize current and future directions in exercise genetics and genomics.
Publisher: BMJ
Date: 18-11-2015
Publisher: Public Library of Science (PLoS)
Date: 29-01-2016
Publisher: Springer Science and Business Media LLC
Date: 05-06-2016
Publisher: BMJ
Date: 30-04-2013
DOI: 10.1136/BJSPORTS-2013-092400
Abstract: Numerous reports of genetic associations with performance-related phenotypes have been published over the past three decades but there has been limited progress in discovering and characterising the genetic contribution to elite/world-class performance, mainly owing to few coordinated research efforts involving major funding initiatives/consortia and the use primarily of the candidate gene analysis approach. It is timely that exercise genomics research has moved into a new era utilising well-phenotyped, large cohorts and genome-wide technologies--approaches that have begun to elucidate the genetic basis of other complex traits/diseases. This review summarises the most recent and significant findings from sports genetics and explores future trends and possibilities.
Publisher: Elsevier
Date: 2013
Publisher: Springer Science and Business Media LLC
Date: 12-07-2017
DOI: 10.1038/NCOMMS16015
Abstract: Hand grip strength is a widely used proxy of muscular fitness, a marker of frailty, and predictor of a range of morbidities and all-cause mortality. To investigate the genetic determinants of variation in grip strength, we perform a large-scale genetic discovery analysis in a combined s le of 195,180 in iduals and identify 16 loci associated with grip strength ( P × 10 −8 ) in combined analyses. A number of these loci contain genes implicated in structure and function of skeletal muscle fibres ( ACTG1 ), neuronal maintenance and signal transduction ( PEX14, TGFA, SYT1 ), or monogenic syndromes with involvement of psychomotor impairment ( PEX14, LRPPRC and KANSL1 ). Mendelian randomization analyses are consistent with a causal effect of higher genetically predicted grip strength on lower fracture risk. In conclusion, our findings provide new biological insight into the mechanistic underpinnings of grip strength and the causal role of muscular strength in age-related morbidities and mortality.
Publisher: Routledge
Date: 23-05-2011
Publisher: Edward Elgar Publishing
Date: 30-09-2016
Publisher: Routledge
Date: 23-05-2011
Publisher: Informa UK Limited
Date: 21-10-2023
Publisher: Informa UK Limited
Date: 02-09-2016
Publisher: Springer Science and Business Media LLC
Date: 20-02-2013
Publisher: Informa UK Limited
Date: 06-04-2018
No related grants have been discovered for Kate Golebiowska.