Genome-wide association study identifies three novel genetic markers associated with elite endurance performance

Biology of Sport
Ii AhmetovVm Govorun

Abstract

To investigate the association between multiple single-nucleotide polymorphisms (SNPs), aerobic performance and elite endurance athlete status in Russians. By using GWAS approach, we examined the association between 1,140,419 SNPs and relative maximal oxygen consumption rate ([Formula: see text]O2max) in 80 international-level Russian endurance athletes (46 males and 34 females). To validate obtained results, we further performed case-control studies by comparing the frequencies of the most significant SNPs (with P < 10(-5)-10(-8)) between 218 endurance athletes and opposite cohorts (192 Russian controls, 1367 European controls, and 230 Russian power athletes). Initially, six 'endurance alleles' were identified showing discrete associations with [Formula: see text]O2max both in males and females. Next, case-control studies resulted in remaining three SNPs (NFIA-AS2 rs1572312, TSHR rs7144481, RBFOX1 rs7191721) associated with endurance athlete status. The C allele of the most significant SNP, rs1572312, was associated with high values of [Formula: see text]O2max (males: P = 0.0051; females: P = 0.0005). Furthermore, the frequency of the rs1572312 C allele was significantly higher in elite endurance athletes (95.5%) in comparison...Continue Reading

Associated Clinical Trials

Citations

May 18, 2016·Medicine and Science in Sports and Exercise·Mark A SarzynskiClaude Bouchard
Mar 17, 2018·Molecular Biology and Evolution·Malgorzata A GazdaMiguel Carneiro
Jan 9, 2018·The Journal of Sports Medicine and Physical Fitness·Irina ZelenkovaAlexandr Grushin
Oct 2, 2019·Annals of Human Genetics·João Paulo Limongi França Guilherme, Antonio Herbert Lancha
Nov 30, 2019·Genes·Craig PickeringJuan Del Coso
Apr 7, 2016·Journal of Strength and Conditioning Research·Jadwiga Malczewska-LenczowskaDariusz Sitkowski
Jan 24, 2020·European Journal of Applied Physiology·Ekaterina A SemenovaIldus I Ahmetov
Jul 26, 2019·Journal of Strength and Conditioning Research·Craig PickeringIldus I Ahmetov
Sep 19, 2020·Journal of Strength and Conditioning Research·Julen Díaz RamírezAdrian Odriozola
Jul 22, 2020·International Journal of Sports Medicine·Javier Alvarez-RomeroDanielle Hiam
Mar 1, 2021·Neurobiology of Aging·Bo-Hyun KimUNKNOWN Alzheimer's Disease Neuroimaging Initiative
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Methods Mentioned

BETA
genotyping
electrophoresis
Assay
proteomic profiling

Software Mentioned

GraphPad
Illumina
HaploReg
PLINK
MetaMax
GraphPad InStat

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