Project Details
Description
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.
The main aim of the Athlome project was to characterise the genetics and biology of sport and exercise medicine, as a platform to understanding healthy body function and major chronic disease conditions for example cardiovascular disease, obesity and type 2 diabetes.
To achieve this ambitious goal, different approaches were used including (but not limited to) genome-wide association studies (GWAS), whole exome sequencing, RNA sequencing, genotype-phenotype association, and epigenetic analyses. Particular priority is also given to tissue-specific and systemic “omics” analysis (such as transcriptomics in the first instance) to develop personalised medicine applications including “intelligent training” and the discovery of “omics” signatures of doping.
The Athlome project aimed to capture genotype and phenotype data of elite athletes, adaptation to exercise training (in both human and animal models), and muscle-related injuries from excising studies and consortiums worldwide with a view to understanding healthy body function and major chronic disease conditions.
It aimed to sequence 1000 genomes of sprinters and distance runners of West and East African descent over three phases:
> Phase 1 of the project involved the sequencing of 12 sprinters and 12 distance runners of the highest level (i.e. world record holders, Olympians and World Champions).
> Phase 2 (2016-2018) involved increasing the sample size for sequencing to 100 genomes.
> The pool of the runners to be sequenced would be expanded to 1000 by 2020 (Phase 3).
An important aim of this sequencing project was to document the genotype distribution of elite east and west African athletes. The large amount of genotype data to be generated from the 1000 Athlome project would therefore serve
1) as a reference panel for future performance studies, and
2) to guide other extreme phenotype studies in medical science.
The project will collectively study the genotype and phenotype data currently available on elite athletes, in adaptation to exercise training (in both human and animal models) and on exercise-related musculoskeletal injuries from individual studies and from consortia worldwide. To achieve this, several steps are set out:
>To establish an ethically sound international research consortium (Athlome Project Consortium) and biobank resource systematically across individual centres;
>To discover genetic variants associated with exercise performance, adaptive response to exercise-training, and skeletal-muscle injuries using the genome-wide association study (GWAS) approach, targeted sequencing or whole genome sequencing, where possible;
> To validate and replicate the genetic markers from the discovery phase across sex and ethnicity; and
> To conduct functional investigations following replicated findings (e.g., study the replicated SNPs and their linkage disequilibrium regions, in vitro expression studies and knockouts of nearby genes) to better understand the associated biology.
During the development of the initial phase of the Athlome Project in determining the genetic variations related to elite athletic performance and injury predisposition, epigenomic, transcriptomic and proteomic analyses need also be carefully planned to strengthen the understanding of genes functions. Linking these findings with metabolic profiling (the end products of the cellular processes) is also a future aspiration of the Athlome Project. Another challenge is to be able to efficiently integrate the multiple “omics” datasets generated from the different approaches.
Athlete project steering committee:
Yannis P. Pitsiladis (Chair), Nir Eynon, Claude Bouchard, Kathryn N. North, Alun G. Williams, Malcolm Collins, Colin N. Moran, Steven L. Britton, Noriyuki Fuku, Eco de Geus, Vassilis Klissouras, Euan A. Ashley, Alejandro Lucia, Ildus I. Ahmetov, Mohammed Alsayrafi, and Masashi Tanaka.
The main aim of the Athlome project was to characterise the genetics and biology of sport and exercise medicine, as a platform to understanding healthy body function and major chronic disease conditions for example cardiovascular disease, obesity and type 2 diabetes.
To achieve this ambitious goal, different approaches were used including (but not limited to) genome-wide association studies (GWAS), whole exome sequencing, RNA sequencing, genotype-phenotype association, and epigenetic analyses. Particular priority is also given to tissue-specific and systemic “omics” analysis (such as transcriptomics in the first instance) to develop personalised medicine applications including “intelligent training” and the discovery of “omics” signatures of doping.
The Athlome project aimed to capture genotype and phenotype data of elite athletes, adaptation to exercise training (in both human and animal models), and muscle-related injuries from excising studies and consortiums worldwide with a view to understanding healthy body function and major chronic disease conditions.
It aimed to sequence 1000 genomes of sprinters and distance runners of West and East African descent over three phases:
> Phase 1 of the project involved the sequencing of 12 sprinters and 12 distance runners of the highest level (i.e. world record holders, Olympians and World Champions).
> Phase 2 (2016-2018) involved increasing the sample size for sequencing to 100 genomes.
> The pool of the runners to be sequenced would be expanded to 1000 by 2020 (Phase 3).
An important aim of this sequencing project was to document the genotype distribution of elite east and west African athletes. The large amount of genotype data to be generated from the 1000 Athlome project would therefore serve
1) as a reference panel for future performance studies, and
2) to guide other extreme phenotype studies in medical science.
The project will collectively study the genotype and phenotype data currently available on elite athletes, in adaptation to exercise training (in both human and animal models) and on exercise-related musculoskeletal injuries from individual studies and from consortia worldwide. To achieve this, several steps are set out:
>To establish an ethically sound international research consortium (Athlome Project Consortium) and biobank resource systematically across individual centres;
>To discover genetic variants associated with exercise performance, adaptive response to exercise-training, and skeletal-muscle injuries using the genome-wide association study (GWAS) approach, targeted sequencing or whole genome sequencing, where possible;
> To validate and replicate the genetic markers from the discovery phase across sex and ethnicity; and
> To conduct functional investigations following replicated findings (e.g., study the replicated SNPs and their linkage disequilibrium regions, in vitro expression studies and knockouts of nearby genes) to better understand the associated biology.
During the development of the initial phase of the Athlome Project in determining the genetic variations related to elite athletic performance and injury predisposition, epigenomic, transcriptomic and proteomic analyses need also be carefully planned to strengthen the understanding of genes functions. Linking these findings with metabolic profiling (the end products of the cellular processes) is also a future aspiration of the Athlome Project. Another challenge is to be able to efficiently integrate the multiple “omics” datasets generated from the different approaches.
Athlete project steering committee:
Yannis P. Pitsiladis (Chair), Nir Eynon, Claude Bouchard, Kathryn N. North, Alun G. Williams, Malcolm Collins, Colin N. Moran, Steven L. Britton, Noriyuki Fuku, Eco de Geus, Vassilis Klissouras, Euan A. Ashley, Alejandro Lucia, Ildus I. Ahmetov, Mohammed Alsayrafi, and Masashi Tanaka.
| Status | Finished |
|---|---|
| Effective start/end date | 1/12/15 → 31/08/20 |
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