Fitness & Body

Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, influencing sprint/power vs endurance capacity

Collagen fibril assembly variant linked to soft tissue injury risk and tendon flexibility

Beta-2 adrenergic receptor variant affecting receptor downregulation, exercise capacity, beta-agonist drug response, and cardiovascular function

Angiotensinogen level variant affecting blood pressure, sodium sensitivity, and cardiovascular adaptation to exercise

Primary lactate transporter in skeletal muscle — affects lactate clearance during high-intensity exercise and recovery between intervals

Regulates fatty acid oxidation and muscle fiber composition, influencing endurance capacity and cardiac adaptation to exercise

Promoter variant controlling interleukin-6 expression — affects inflammation, exercise recovery, and cardiovascular risk

Affects myostatin's ability to limit muscle growth, influencing muscle mass and strength response to training

Promoter variant affecting circulating IGF-1 levels and athletic performance potential

Enzyme critical for energy production during high-intensity exercise; deficiency reduces sprint and power performance

Cardiac myosin-binding protein variant strongly associated with endurance athlete status and elevated VO2max

Promoter variant affecting VEGF-A expression and angiogenesis, influencing muscle adaptation to training and soft tissue injury risk

Master regulator of cellular oxygen response influencing endurance capacity, training adaptability, and injury resilience in athletes

Affects tenascin C protein levels and elasticity, influencing tendon injury risk and exercise-induced tissue adaptation

Intronic variant affecting aggrecan expression and cartilage integrity, associated with ACL injury risk and intervertebral disc health

Long non-coding RNA regulating erythropoiesis, influencing hemoglobin levels and oxygen transport capacity in endurance athletes

Intronic variant in the mitochondrial biogenesis regulator NRF2, associated with endurance athletic performance and intermittent exercise capacity

Sp1 transcription factor binding site polymorphism affecting collagen production, bone mineral density, and osteoporotic fracture risk

Wnt signaling co-receptor variant affecting bone mineral density and fracture risk

Intronic variant affecting cortical bone thickness, bone mineral density, and fracture risk

Regulatory variant in GDF5 affecting cartilage development and osteoarthritis risk in knees, hips, and spine

Promoter polymorphism affecting MMP3 enzyme expression levels, influencing cartilage degradation and connective tissue remodeling

Regulatory variant in the RANKL gene affecting bone mineral density and osteoporotic fracture risk

Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enzyme production, affecting extracellular matrix remodeling in connective tissue and adipose tissue

Tag SNP for the ACE insertion/deletion polymorphism — the C allele tracks the insertion (lower ACE activity, endurance advantage) and the G allele tracks the deletion (higher ACE activity, power/strength advantage)

Beta-1 adrenergic receptor variant where Arg389 produces higher basal activity and stronger catecholamine response, affecting exercise heart rate, beta-blocker pharmacogenomics, and cardiovascular risk

Regulatory variant that increases PPARD transcription, enhancing fat oxidation during exercise and endurance capacity; the C allele is associated with elite endurance athlete status

Beta-1 adrenergic receptor variant at position 49 affecting receptor downregulation kinetics, resting heart rate, heart failure prognosis, and endurance exercise capacity

The causal ACE insertion/deletion structural variant — presence or absence of a 287-bp Alu element in intron 16 drives ACE enzyme levels, with the I allele lowering ACE activity (endurance advantage) and the D allele raising it (power/strength adaptation)

3'UTR variant in PPARD that acts as the third tag in the elite athlete haplotype (rs2267668/rs2016520/rs1053049); TC carriers show enhanced skeletal muscle glucose uptake and insulin sensitivity; the A/C/C haplotype containing this C allele is dramatically underrepresented in elite athletes

Intronic PPARD variant that impairs aerobic fitness gains and body composition improvement with training; G-allele carriers show reduced mitochondrial function and smaller muscle volume increases with exercise

Missense variant in the DNA damage recognition gene XPC that reduces global-genome nucleotide excision repair capacity, affecting recovery from UV-induced damage, exercise-generated oxidative DNA lesions, and environmental carcinogen exposure