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, Mohamed A. Elrayess

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article number19889
JournalScientific reports
Volume9
Issue number1
DOIs
Publication statusPublished - 1 Dec 2019

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Athletic Performance
Quantitative Trait Loci
Genome-Wide Association Study
Athletes
Sports
Androstenediol
Genetic Research
Genetic Loci
Metabolomics
Genetic Predisposition to Disease
Biomarkers
Exercise
Phenotype

ASJC Scopus subject areas

  • General

Cite this

Al-Khelaifi, F., Diboun, I., Donati, F., Botrè, F., Abraham, D., Hingorani, A., ... Elrayess, M. A. (2019). Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance. Scientific reports, 9(1), [19889]. https://doi.org/10.1038/s41598-019-56496-7

Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance. / Al-Khelaifi, Fatima; Diboun, Ilhame; Donati, Francesco; Botrè, Francesco; Abraham, David; Hingorani, Aroon; Albagha, Omar; Georgakopoulos, Costas; Suhre, Karsten; Yousri, Noha A.; Elrayess, Mohamed A.

In: Scientific reports, Vol. 9, No. 1, 19889, 01.12.2019.

Research output: Contribution to journalArticle

Al-Khelaifi, F, Diboun, I, Donati, F, Botrè, F, Abraham, D, Hingorani, A, Albagha, O, Georgakopoulos, C, Suhre, K, Yousri, NA & Elrayess, MA 2019, 'Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance', Scientific reports, vol. 9, no. 1, 19889. https://doi.org/10.1038/s41598-019-56496-7
Al-Khelaifi, Fatima ; Diboun, Ilhame ; Donati, Francesco ; Botrè, Francesco ; Abraham, David ; Hingorani, Aroon ; Albagha, Omar ; Georgakopoulos, Costas ; Suhre, Karsten ; Yousri, Noha A. ; Elrayess, Mohamed A. / Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance. In: Scientific reports. 2019 ; Vol. 9, No. 1.
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