Genetics of long‐distance runners and road cyclists—A systematic review with meta‐analysis

Abstract

The aim of this systematic review and meta‐analysis was to identify the genetic variants of (inter)national competing long‐distance runners and road cyclists compared with controls. The Medline and Embase databases were searched until 15 November 2021. Eligible articles included genetic epidemiological studies published in English. A homogenous group of endurance athletes competing at (inter)national level and sedentary controls were included. Pooled odds ratios based on the genotype frequency with corresponding 95% confidence intervals (95%CI) were calculated using random effects models. Heterogeneity was addressed by Q‐statistics, and I2. Sources of heterogeneity were examined by meta‐regression and risk of bias was assessed with the Clark Baudouin scale. This systematic review comprised of 43 studies including a total of 3938 athletes and 10 752 controls in the pooled analysis. Of the 42 identified genetic variants, 13 were investigated in independent studies. Significant associations were found for five polymorphisms. Pooled odds ratio [95%CI] favoring athletes compared with controls was 1.42 [1.12–1.81] for ACE II (I/D), 1.66 [1.26–2.19] for ACTN3 TT (rs1815739), 1.75 [1.34–2.29] for PPARGC1A GG (rs8192678), 2.23 [1.42–3.51] for AMPD1 CC (rs17602729), and 2.85 [1.27–6.39] for HFE GG + CG (rs1799945). Risk of bias was low in 25 (58%) and unclear in 18 (42%) articles. Heterogeneity of the results was low (0%–20%) except for HFE (71%), GNB3 (80%), and NOS3 (76%). (Inter)national competing runners and cyclists have a higher probability to carry specific genetic variants compared with controls. This study confirms that (inter)national competing endurance athletes constitute a unique genetic make‐up, which likely contributes to their performance level.

Genetics and athletic performance: a systematic SWOT analysis of non-systematic reviews

“…The main reasons for exclusion were “discipline specific” reviews (n = 15), ( Eynon et al, 2013 ; Maffulli et al, 2013 ; Tucker et al, 2013 ; Vancini et al, 2014 ; Heffernan et al, 2015 ; Lundby et al, 2017 ; Costello et al, 2018 ; Southward et al, 2018 ; Brazier et al, 2019 ; Herbert et al, 2019 ; Antrobus et al, 2021 ; Barreto et al, 2021 ; Meyler et al, 2021 ; Cabrera-Serrano and Ravenscroft, 2022 ; Mareddy et al, 2022 ), “omics/epigenetics” (n = 9), ( Ehlert et al, 2013 ; Bassini and Cameron, 2014 ; Kennedy et al, 2018 ; Hill et al, 2019 ; Polli et al, 2019 ; Hall et al, 2020 ; Kelly et al, 2020 ; Malsagova et al, 2021 ; Nieman, 2021 ), “doping” (n = 4), ( Unal and Ozer Unal, 2004 ; Gaffney and Parisotto, 2007 ; Schneider et al, 2012 ; Fischetto and Bermon, 2013 ), “heritability” related reviews (n = 1), ( Zhang and Speakman, 2019 ), “polymorphism specific” reviews (n = 8), ( Gordon et al, 2005 ; Sarpeshkar and Bentley, 2010 ; Angelopoulos et al, 2011 ; Collins et al, 2016 ; Venezia and Roth, 2016 ; Pickering and Kiely, 2017 ; Del Coso et al, 2019 ; van de Vegte et al, 2019 ), and “systematic reviews” (n = 7). ( Rankinen et al, 2006 ; Alvarez-Romero et al, 2021 ; Balberova et al, 2021 ; Ahmetov et al, 2022 ; Ginevičienė et al, 2022 ; Konopka et al, 2022 ; Mohan, 2022 ) ESM 3 contains the reasoning for exclusion. ESM 4 presents the key characteristics of the reviews including the thematic phrases (i.e., themes) identified in the second analysis cycle.…”

Outrunning the grim reaper: longevity of the first 200 sub-4 min mile male runners

“…It is also likely that these populations possess favourable genetics and engage in additional healthy lifestyle behaviours beyond exercise training and competition. Indeed, there appears to be a likely genetic component to athletic performance28 29 that extends to successfully running a sub-4 min mile. Intriguingly, 20 sets of brothers, including six sets of twins, and father and son combinations were among the first 200 sub-4 min mile runners 4.…”

The molecular athlete: exercise physiology from mechanisms to medals

“…Despite these alternative explanations, it is estimated that ∼65% of athletic ability can be explained by genetic factors ( 710 ). Moreover, there are data indicating that maximal endurance capacity as well as trainability is inherited ( 699 , 711 ) and that the genetic makeup accounts for a substantial contribution to performance levels ( 712 ). However, despite evidence that genetic components are strongly related to the phenotypic traits of elite athletes, knowledge of the specific genes underpinning this predisposition is limited.…”