Bradykinin receptor gene variant and human physical performance

Area of Science:

• Human Genetics
• Exercise Physiology
• Molecular Biology

Background:

• Athletic performance is influenced by genetic variations, notably in the angiotensin-I converting enzyme (ACE) gene.
• The ACE gene has insertion (I)/deletion (D) variants, with the I allele linked to higher kinin activity.
• A common variant in the kinin beta(2) receptor (B(2)R) gene, specifically the -9 allele, is associated with increased receptor mRNA expression.

Purpose of the Study:

• To investigate the association between B(2)R gene variants and muscular contraction efficiency (delta efficiency, DE).
• To examine the relationship between B(2)R genotype and running distance in elite track athletes.
• To explore potential biological interactions between ACE I/D genotype and B(2)R variants.

Main Methods:

• Assessed delta efficiency (DE) in 115 healthy individuals based on their B(2)R genotype (+9/+9, +9/-9, -9/-9).
• Evaluated running distance in 81 elite track athletes.
• Analyzed for interactions between ACE I/D genotype and B(2)R genotype.

Main Results:

• DE was significantly associated with B(2)R genotype, with the -9/-9 genotype showing the highest DE.
• A significant interaction was observed between ACE and B(2)R genotypes, with the ACE II and B(2)R -9/-9 combination yielding the highest DE.
• The ACE I/B(2)R -9 haplotype, indicating high kinin receptor activity, was significantly associated with endurance events in elite athletes.

Conclusions:

• Common genetic variations in the B(2)R gene are linked to skeletal muscle contraction efficiency and endurance performance in elite athletes.
• The ACE gene variant interacts with B(2)R genotype, influencing athletic fitness phenotypes, potentially through elevated kinin activity.
• These findings highlight the role of the kinin-system genetic variations in athletic performance.