Genomic Predictors of Brisk Walking Are Associated with Elite Sprinter Status

Abstract

Brisk walkers are physically more active, taller, have reduced body fat and greater physical fitness and muscle strength. The aim of our study was to determine whether genetic variants associated with increased walking pace were overrepresented in elite sprinters compared to controls. A total of 70 single-nucleotide polymorphisms (SNPs) previously identified in a genome-wide association study (GWAS) of self-reported walking pace in 450,967 European individuals were explored in relation to sprinter status. Genotyping of 137 Russian elite sprinters and 126 controls was performed using microarray technology. Favorable (i.e., high-speed-walking) alleles of 15 SNPs (FHL2 rs55680124 C, SLC39A8 rs13107325 C, E2F3 rs4134943 T, ZNF568 rs1667369 A, GDF5 rs143384 G, PPARG rs2920503 T, AUTS2 rs10452738 A, IGSF3 rs699785 A, CCT3 rs11548200 T, CRTAC1 rs2439823 A, ADAM15 rs11264302 G, C6orf106 rs205262 A, AKAP6 rs12883788 C, CRTC1 rs11881338 A, NRXN3 rs8011870 G) were identified as having positive associations with sprinter status (p < 0.05), of which IGSF3 rs699785 survived correction for multiple testing (p = 0.00004) and was linked (p = 0.042) with increased proportions of fast-twitch muscle fibers of m. vastus lateralis in physically active men (n = 67). Polygenic analysis revealed that individuals with ≥18 favorable alleles of the 15 SNPs have an increased odds ratio of being an elite sprinter when compared to those with ≤17 alleles (OR: 7.89; p < 0.0001). Using UK Biobank data, we also established the association of 14 favorable alleles with low BMI and fat percentage, 8 alleles with increased handgrip strength, and 7 alleles with increased height and fat-free mass. In conclusion, we have identified 15 new genetic markers associated with sprinter status.

Identification and Characterization of Genomic Predictors of Sarcopenia and Sarcopenic Obesity Using UK Biobank Data

“…The link of 78 SNPs with muscle strength and lean mass indicates that these markers may be important not only in the general population, but also in athletes. Indeed, of this panel of markers, some of protective alleles have been reported to be over-represented in elite sprinters ( E2F3 rs4134943 T, FHL2 rs55680124 C, GDF5 rs143384 G, SLC39A8 rs13107325 C, and ZNF568 rs1667369 A) [ 56 ] and elite strength athletes ( ADCY3 rs10203386 T, ADPGK rs4776614 C, MMS22L rs9320823 T and ZKSCAN5 rs3843540 C) [ 57 ] compared to controls. Furthermore, GBF1 rs2273555 G, MLN rs12055409 G, and MMS22L rs9320823 T alleles (all protective) were found to be positively associated with weightlifting performance [ 58 , 59 ].…”

Exome-Wide Association Study of Competitive Performance in Elite Athletes

“…Recently, identification of candidate genes and/or variants associated with sports parameters has greatly attracted scientists. Until now, more than 235 genetic variants have been linked to the athletic parameters [ 10 , 11 ]. However, the results of the single-gene and/or variant approach may mislead, owing to the ignorance of the other related genes and/or variants.…”

Genes and Athletic Performance: The 2023 Update

“…To overcome the issue of small samples of elite athletes, the use of genome-wide significant ( p < 5 × 10 −8 ) markers of exercise-related phenotypes (correlated with sport-related traits) discovered in large cohorts of untrained subjects (for example, UK Biobank, FinnGen, BioBank Japan, etc.) was proposed [ 49 , 50 ]. This approach may significantly decrease the risk of obtaining false-positive results in the discovery of markers associated with athlete status, which is recognized as a key limitation of sports genomics studies conducted on limited sample sizes.…”

“…A recent example of such an approach being implemented is the study by Guilherme et al [ 49 ], which investigated two correlated phenotypes: brisk walking pace (using UK Biobank participants) and sprint athlete status (using elite Russian sprinters). Brisk walkers perform more physical activity, are taller, have reduced adiposity and demonstrate greater physical performance and strength versus slower walkers, with such traits also recorded more commonly in sprinters than other athletes of other disciplines.…”