Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene.

Combat sports are an intermittent sport, with mixed anaerobic and aerobic energy production. Here, we investigated whether the 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 cohort of 1,129 Brazilian individuals (164 combat-sport athletes and 965 controls), using a case-control association study. We found that the GA-binding protein transcription factor subunit beta 1 (GABPβ1) gene (also known as nuclear respiratory factor 2; 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 athletes (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 because of a better mitochondrial response to intermittent exercises.