Genome-wide association study identifies three novel genetic markers associated with elite endurance performance
Journal Title: Biology of Sport - Year 2015, Vol 32, Issue 1
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 ([i]V̇[/i]O[sub]2max[/sub]) 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 [i]P[/i]<10[sup]-5[/sup]-10[sup]-8[/sup]) 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 [i]V̇[/i]O[sub]2max[/sub] both in males and females. Next, case-control studies resulted in remaining three SNPs ([i]NFIA-AS2 [/i]rs1572312, [i]TSHR[/i] rs7144481, [i]RBFOX1[/i] rs7191721) associated with endurance athlete status. The C allele of the most significant SNP, rs1572312, was associated with high values of [i]V̇[/i]O[sub]2max[/sub] (males: [i]P[/i] = 0.0051; females: [i]P[/i] = 0.0005). Furthermore, the frequency of the rs1572312 C allele was significantly higher in elite endurance athletes (95.5%) in comparison with non-elite endurance athletes (89.8%, [i]P[/i] = 0.0257), Russian (88.8%, [i]P[/i] = 0.007) and European (90.6%, [i]P[/i] = 0.0197) controls and power athletes (86.2%, [i]P[/i] = 0.0005). The rs1572312 SNP is located on the nuclear factor I A antisense RNA 2 ([i]NFIA-AS2[/i]) gene which is supposed to regulate the expression of the [i]NFIA [/i]gene (encodes transcription factor involved in activation of erythropoiesis and repression of the granulopoiesis). Our data show that the [i]NFIA-AS2 [/i]rs1572312, [i]TSHR[/i] rs7144481 and [i]RBFOX1[/i] rs7191721 polymorphisms are associated with aerobic performance and elite endurance athlete status.
Authors and Affiliations
Ildus Ahmetov, Nickolay Kulemin, Daniil Popov, Vladimir Naumov, Egor Akimov, Yan Bravy, Emiliya Egorova, Albina Galeeva, Edward Generozov, Elena Kostryukova, Andrey Larin, Leysan Mustafina , Alexander Pavlenko, Linda Starnes, Piotr Żmijewski, Dmitry Alexeev, Olga Vinogradova, Vadim Govorun
Keywords
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