Research

Fitness & Body

How your genes influence muscle performance, bone density, injury risk, and joint health

This category covers muscle fiber composition (ACTN3), muscle growth (MSTN, IGF1), energy metabolism (PPARGC1A, AMPD1, MCT1), cardiac output (MYBPC3, ADRB2), oxygen delivery (VEGFA, HIF1A, NFIA-AS2), connective tissue resilience (COL5A1, TNC, ACAN), fat oxidation (PPARA), blood pressure (AGT), inflammatory recovery (IL6), bone density (COL1A1, LRP5, WNT16, TNFSF11), and joint health (GDF5, MMP3). These variants influence power-endurance balance, injury risk, bone strength, and cartilage maintenance.

Genetic Variants (24)

rs1815739

(ACTN3 R577X)

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

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rs8192678

(PPARGC1A Gly482Ser)

Master regulator of mitochondrial biogenesis affecting aerobic capacity, endurance training response, and metabolic efficiency

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rs12722

(COL5A1 C/T 3'UTR)

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

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rs1042713

(ADRB2 Arg16Gly)

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

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rs699

(AGT M235T)

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

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rs1049434

(SLC16A1 A1470T)

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

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rs4253778

(PPARA intron 7 G/C)

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

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rs1800795

(IL6 -174G/C)

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

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rs1805086

(MSTN K153R)

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

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rs35767

(IGF1 C-1245T)

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

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rs17602729

(AMPD1 C34T (Q12X))

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

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rs1052373

(MYBPC3)

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

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rs2010963

(VEGFA G-634C (+405G>C))

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

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rs11549465

(HIF1A Pro582Ser)

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

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rs2104772

(TNC)

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

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rs1516797

(ACAN)

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

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rs1572312

(NFIA-AS2)

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

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rs7181866

(GABPB1)

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

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rs1800012

(COL1A1 Sp1 Binding Site)

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

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rs3736228

(LRP5 A1330V)

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

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rs3801387

(WNT16)

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

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rs143383

(GDF5 C/T)

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

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rs3025058

(MMP3 5A/6A)

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

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rs9594759

(TNFSF11)

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

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