Ace gene and cardio-respiratory efficiency

Circulation

Genetic polymorphism in the ACE gene is one of the most studied in the field of sports genetics, with tens of thousands of athletes and controls tested.

 

The affect of the ACE variants over cardio-vascular function and metabolic processes in muscles is so significant that this genetic test may assist in predicting success in either endurance or power sports. 

At the elite level, this might be the difference between a world record and only making the final.

Gene: ANGIOTENSIN I-CONVERTING ENZYME; (ACE)

Genomic coordinates (GRCh38): 17:63,477,060-63,498,379

The ACE gene encodes for angiotensin convertase, an enzyme that plays an important role in blood pressure regulation and electrolyte balance. It hydrolyzes angiotensin I into angiotensin II, a potent vasopressor which elevates blood pressure. ACE can also inactivate bradykinin, a potent vasodilator which lowers blood pressure. It can stimulate aldosterone, a hormone that plays a central role in the regulation of blood pressure and blood volume, water retention or loss, and mineral levels.

 

Genetic variations in the ACE are connected with the regulation of blood pressure and play an important role in cardiorespiratory efficiency. A certain ACE variant, the I/D polymorphism, has been extensively studied with regard to exercise-related cardio-vascular and skeletal muscle function.

The “I” allele has been associated with skeletal muscle efficiency and subsequent conservation of energy that come into play on endurance performance.

Being an homozygous with the “II” genotype seem to make it easier to excel in aerobic effort,  while “DD” individuals will need to train the hardest and may have the least potential to succeed in the top tier of endurance sports.

The D allele has been reported to be highly frequent among elite power-oriented athletes. Homozygous DD individuals have 3-4 times higher angiotensin convertase activity in tissue, in comparison to the II homozygotes. The advantage that the D variant grants is most likely mediated by differences in skeletal muscle strength gain.