Key result
Total Genotype Score for cardiorespiratory fitness fails to distinguish elite endurance athletes from controls.
Why the study?
Most research on genetics and endurance performance investigates target genes separately, although endurance is a complex trait arising from multi-gene interactions.
Does a polygenic profile of cardiorespiratory genes predict elite endurance athlete status in Spanish males?
Case-Control (n=245)
Does a polygenic profile of cardiorespiratory genes predict elite endurance athlete status in Spanish males?
Absolute Event Rate: 46.54% vs 47.72%
p-value: p=0.415
A polygenic profile based on eight cardiorespiratory-related polymorphisms does not differentiate elite male endurance athletes from non-athlete controls in a Spanish cohort.
Null finding cautions against polygenic scoring for endurance prediction in this cohort; leaves open cardiorespiratory gene contributions to performance.
Background: most of the research concerning the influence of genetics on endurance performance has been carried out by investigating target genes separately. However, endurance performance is a complex trait that can stem from the interaction of several genes. The objective of this study was to compare the frequencies of polymorphisms in target genes involving cardiorespiratory functioning in elite endurance athletes vs. non-athlete controls. Methods: genotypic frequencies were determined in 123 elite endurance athletes and in 122 non-athletes. Genotyping of ACE (rs4340), NOS3 (rs2070744 and rs1799983), ADRA2a (rs1800544 and rs553668), ADRB2 (rs1042713 and rs1042714), and BDKRB2 (rs5810761) was performed by polymerase chain reaction. The total genotype score (TGS: from 0 to 100 arbitrary units; a.u.) was calculated from the genotype score in each polymorphism. Results: the mean TGS in non-athletes (47.72 ± 11.29 a.u.) was similar to elite endurance athletes (46.54 ± 11.32 a.u., p = 0.415). The distribution of TGS frequencies were also similar in non-athletes and elite endurance athletes (p = 0.333). There was no TGS cut-off point to discriminate being elite endurance athletes. Conclusions: the genetic profile in the selected genes was similar in elite endurance athletes and in controls, suggesting that the combination of these genes does not determine endurance performance.
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Varillas‐Delgado et al. (2021) conducted a case-control in Elite endurance athlete status (n=245). Total Genotype Score (TGS) of 8 cardiorespiratory polymorphisms vs. Non-athlete controls was evaluated on Mean Total Genotype Score (TGS) (p=0.415). The mean Total Genotype Score of eight polymorphisms associated with cardiorespiratory function was similar between elite endurance athletes (46.54 a.u.) and non-athlete controls (47.72 a.u., p = 0.415).
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