Genetic Profiling of Inflammation, Connective Tissue, and One-Carbon Metabolism Genes in Athletes: A Hypothesis-Based Perspective on Personalized Nutrition

Introduction:
Chronic inflammation, connective tissue injuries, and tendinopathies are critical biological factors that can compromise performance sustainability in athletes. Nutrigenetic research has shown that genetic variants related to inflammatory response (IL6, TNF), connective tissue integrity (COL5A1, GDF5), and one-carbon metabolism (MTHFR, MTRR) significantly contribute to these risks. Impairments in one-carbon metabolism may alter methylation efficiency, thereby influencing recovery processes and musculoskeletal health.

Methods:
An anonymized genetic dataset obtained from an athlete’s inflammation, connective tissue, and one-carbon metabolism panels through an Epigenetic Coaching service was analyzed. Identified genotypes were compared with performance- and health-related polymorphisms reported in the literature to construct an individualized biological risk profile.

Results:
The panel revealed that the IL6 (GG) and TNF (AA) genotypes were associated with prolonged exercise-induced inflammation. COL5A1 (TT) and GDF5 (CC) variants were linked to reduced connective tissue resilience and an increased risk of tendon injury. MTHFR (TT) and MTRR (AG) genotypes suggested decreased folate metabolism efficiency and reduced methylation capacity.

Conclusion:
The findings support the hypothesis that optimizing one-carbon metabolism through nutrients such as active folate (5-MTHF), vitamins B6 and B12, and choline could potentially enhance methylation efficiency and modulate inflammation. However, this interpretation remains hypothesis-based and requires validation in future studies. Personalized supplementation guided by genetic profiling may represent a promising yet exploratory approach to improving recovery, reducing injury risk, and supporting overall athletic performance.