title: 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.
authors.affiliation: Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45 110, Greece.
authors.forename: Georgios I
authors.initials: GI
authors.lastname: Tsianos
authors.forename: Evangelos
authors.initials: E
authors.lastname: Evangelou
authors.forename: Arnoud
authors.initials: A
authors.lastname: Boot
authors.forename: M Carola
authors.initials: MC
authors.lastname: Zillikens
authors.forename: Joyce B J
authors.initials: JB
authors.lastname: van Meurs
authors.forename: Andre G
authors.initials: AG
authors.lastname: Uitterlinden
authors.forename: John P A
authors.initials: JP
authors.lastname: Ioannidis
mesh_terms: D000328:Adult; D001499:Bayes Theorem; D015331:Cohort Studies; D004734:Energy Metabolism / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism*; D016017:Odds Ratio; D010641:Phenotype; D010807:Physical Endurance / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D043782:Receptor, Bradykinin B2 / Q000235:genetics; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics; D012420:Running; D013647:Task Performance and Analysis; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; D043782:Receptor, Bradykinin B2; D018343:Receptors, Adrenergic, beta-2