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

被引：43

作者：

Al-Khelaifi, Fatima ^{[1
,2
]}

Diboun, Ilhame ^{[3
]}

Donati, Francesco ^{[4
]}

Botre, Francesco ^{[4
]}

Abraham, David ^{[2
]}

Hingorani, Aroon ^{[5
]}

Albagha, Omar ^{[3
,6
]}

Georgakopoulos, Costas ^{[1
]}

Suhre, Karsten ^{[7
]}

Yousri, Noha A. ^{[8
,9
]}

Elrayess, Mohamed A. ^{[10
]}

机构：

[1] Sports City, Anti Doping Lab Qatar, Doha, Qatar

[2] UCL, Div Med, London NW3 2PF, England

[3] Hamad Bin Khalifa Univ, Coll Hlth & Life Sci, Doha, Qatar

[4] Federaz Med Sport Italiana, Lab Antidoping, Largo Giulio Onesti 1, I-00197 Rome, Italy

[5] UCL, UCL Inst Cardiovasc Sci, London WC1E 6BT, England

[6] Univ Edinburgh, Ctr Genom & Expt Med, Edinburgh, Midlothian, Scotland

[7] Qatar Fdn, Weill Cornell Med Coll Qatar, Dept Physiol & Biophys, POB 24144, Doha, Qatar

[8] Qatar Fdn, Weill Cornell Med Coll Qatar, Dept Genet Med, POB 24144, Doha, Qatar

[9] Alexandria Univ, Comp & Syst Engn, Alexandria, Egypt

[10] Qatar Univ, Biomed Res Ctr, Doha, Qatar

来源：

SCIENTIFIC REPORTS | 2019年 / 9卷 / 1期

关键词：

GENOME-WIDE ASSOCIATION; RARE VARIANTS; EXERCISE; GENES; IDENTIFICATION; PROFILES; FITNESS;

D O I：

10.1038/s41598-019-56496-7

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：12

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