Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPβ1 gene

Combat sports have an intermittent nature, with mixed anaerobic and aerobic energy production. Here, we investigated whether polymorphisms that have been previously suggested as genetic markers for endurance or power phenotypes were associated with combat-sport athletic status. A total of 23 previously reported performance-related polymorphisms were examined in a Brazilian cohort of 1,129 individuals (164 combat-sport athletes and 965 controls), using a case-control association study. We found that the GABPβ1 gene (also known as NRF2) was associated with athletic status, with the minor G (rs7181866) and T (rs8031031) alleles overrepresented in athletes (P ≤ 0.003), especially among world-class competitors (P ≤ 0.0002). These findings indicate that single nucleotide polymorphisms (SNPs) within the GABPβ1 gene increase the likelihood of an individual being a combat-sport athlete, possibly due to a better mitochondrial response to intermittent exercises.