Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners

Abstract

Athletic endurance performance is probably partly under genetic control, but genetic association studies have yielded inconclusive results. The objective of the present study was to evaluate the association of polymorphisms in eight muscle- or metabolism-related genes with endurance performance in participants of the Olympus Marathon running race. We recruited 438 athletes who participated in the 2007 and 2008 annual running events of the Olympus Marathon: a 43.8-km race with an ascent from sea level to 2,690-m altitude and then a descent to 300 m. Phenotypes of interest were the competitive event time at the specific Olympus Marathon where the athlete was enrolled, the fastest reported timing ever achieved in an Olympus Marathon, and how many kilometers per week the athlete ran during the previous year. Eleven polymorphisms in alpha(3)-actinin (ACTN3), AMP deaminase-1 (AMPD1), bradykinin B(2) receptor (BDKRB2), beta(2)-adrenergic receptor (ADRB2), peroxisome proliferator-activated receptor (PPAR)-gamma coactivator-1 alpha (PPARGC1A), PPAR-alpha (PPARA), PPAR-delta (PPARD), and apoliprotein E (APOE) were evaluated. Hardy-Weinberg equilibrium testing on the overall cohort of male athletes showed a significant deviation for BDKRB2 rs1799722 (P = 0.018; P = 0.006 when limited to 316 habitual male runners) with an excess of the TT genotype. Across all athletes, no associations showed nominal statistical significance for any of the three phenotypes, and the same was true when analyses were limited to men (n = 417). When limited to 316 male athletes who identified running as their preferred sport, ADRB2 rs1042713 had nominally significant associations with faster times for the minor (A) allele for the fastest time ever (P = 0.01). The direction of effect was identical as previously postulated only for BDKRB2 rs1799722 and ADRB2 rs1042713, indicating consistency. BDKRB2 rs1799722 and ADRB2 rs1042713 have some support for being implicated in endurance performance among habitual runners and require further investigation.

Associations between APOE and low-density lipoprotein cholesterol genotypes and cognitive and physical capability: the HALCyon programme

“…Our own investigation from the model in ELSA suggested a detectable difference from around 55 years. Fewer investigations have been reported on the associations between APOE and measures of physical performance; however, findings include no association with athletic performance (Tsianos et al 2010) and associations between ε4 and slower gait speeds from a study of 1,262 adults aged over 65 years (Melzer et al 2005). Our larger investigation found evidence to support a role of APOE in decline in walk speeds over a 4-year period in one study but little evidence for associations with physical capability from cross-sectional analysis.…”

Current Progress in Sports Genomics

“…Wolfarth et al [43] reported that the 16Arg allele was overrepresented in 313 white male elite endurance athletes compared to 297 white male sedentary controls, suggesting a positive association between the tested Gly16Arg polymorphism and endurance performance. Furthermore, in a study of 316 Mount Olympus marathon runners, Tsianos et al [44] have shown an association between the 16Arg allele and the fastest time of athletes. The results of these studies are in agreement with the previous work in which an association of the 16Arg allele with higher peak VO 2 in heart failure patients was reported [45].…”

“…The same negative results were obtained by Sawczuk et al [62] and Grenda et al [63] in two studies involving 334 endurance athletes from Russia and Poland. Furthermore, Tsianos et al [44] have reported an excess of the TT genotype of the BDKRB2 gene rs1799722 C/T polymorphism in 316 male Mount Olympus marathon runners.…”

“…Although four studies have shown that proportion of the XX genotype and/or X allele was higher in endurance-oriented athletes compared with controls [183,190,200,201], the majority of authors reported no association between the ACTN3 R577X polymorphism and endurance athlete status [36,44,115,179,184,193,194,[202][203][204][205][206].…”

Sightings edited by John W. Severinghaus

“…Tsianos et al (2010) evaluated the association of polymorphisms in eight muscle-or metabolism-related genes with endurance performance in 438 participants of the Olympus Marathon running race. Eleven polymorphisms were evaluated.…”