Evidence map›Paper›PMID 31882771›Full record

Trial reportScientific reports2019

Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance.

Fatima Al-Khelaifi, Ilhame Diboun, Francesco Donati, Francesco Botrè, David Abraham, Aroon Hingorani, Omar Albagha, Costas Georgakopoulos, Karsten Suhre, Noha A Yousri and 1 more

Erratum issuedAbstract readClinical Trial
In one paragraph

Trial report in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

39 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Empowering genome-wide association studies via a visualizable test based on the regional association score.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  13. Journal of diabetes research · 2025
    Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Molecular origin and biological effects of exercise mimetics.Journal of exercise science and fitness · 2024
    Review
  19. Article
  20. Single nucleotide variants in theFrontiers in cellular and infection microbiology · 2024
    Observational
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Fatima Al-KhelaifiAnti Doping Laboratory Qatar, Sports City, Doha, Qatar.
Ilhame DibounCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Francesco DonatiLaboratorio Antidoping, Federazione Medico Sportiva Italiana, Largo Giulio Onesti 1, 00197, Rome, Italy.
Francesco BotrèLaboratorio Antidoping, Federazione Medico Sportiva Italiana, Largo Giulio Onesti 1, 00197, Rome, Italy.ORCID http://orcid.org/0000-0001-5296-8126
David AbrahamDivision of Medicine, University College London, London, NW3 2PF, United Kingdom.ORCID http://orcid.org/0000-0001-5957-5851
Aroon HingoraniUCL Institute of Cardiovascular Science, University College London, London, WC1E 6BT, United Kingdom.ORCID http://orcid.org/0000-0001-8365-0081
Omar AlbaghaCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Costas GeorgakopoulosAnti Doping Laboratory Qatar, Sports City, Doha, Qatar.
Karsten SuhreDepartment of Physiology and Biophysics, Weill Cornell Medical College in Qatar, Qatar-Foundation, P.O. Box 24144, Doha, Qatar.ORCID http://orcid.org/0000-0001-9638-3912
Noha A YousriDepartment of Genetic Medicine, Weill Cornell Medical College in Qatar, Qatar-Foundation, P.O. Box 24144, Doha, Qatar.
Mohamed A ElrayessBiomedical Research Center, Qatar University, Doha, Qatar. m.elrayess@qu.edu.qa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic research of elite athletic performance has been hindered by the complex phenotype and the relatively small effect size of the identified genetic variants. The aims of this study were to identify genetic predisposition to elite athletic performance by investigating genetically-influenced metabolites that discriminate elite athletes from non-elite athletes and to identify those associated with endurance sports. By conducting a genome wide association study with high-resolution metabolomics profiling in 490 elite athletes, common variant metabolic quantitative trait loci (mQTLs) were identified and compared with previously identified mQTLs in non-elite athletes. Among the identified mQTLs, those associated with endurance metabolites were determined. Two novel genetic loci in FOLH1 and VNN1 are reported in association with N-acetyl-aspartyl-glutamate and Linoleoyl ethanolamide, respectively. When focusing on endurance metabolites, one novel mQTL linking androstenediol (3alpha, 17alpha) monosulfate and SULT2A1 was identified. Potential interactions between the novel identified mQTLs and exercise are highlighted. This is the first report of common variant mQTLs linked to elite athletic performance and endurance sports with potential applications in biomarker discovery in elite athletic candidates, non-conventional anti-doping analytical approaches and therapeutic strategies.

Indexed as

AthletesGenotypePolymorphism, Single NucleotideQuantitative Trait LociFemaleGenome-Wide Association StudyHumansMalePhysical Endurance

Identifiers

PMID31882771
PMCPMC6934758

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.