This was a case study conducted on a high-performance athlete. The subject was a 23-year-old open water swimmer with a 10-year training history, who consented to the disclosure of his data for research purposes. Before we started planning our training, we requested a sports genetics test from DGLab DNA Tests, Brazil. Using real-time PCR with the Taqman system, the company identified the athlete's genotypes associated with the following genes and polymorphisms: ACTN3 (rs1815739), MCT1 (rs1049434), AGT (rs699), ACE (rs4341), BDKRB2 (rs1799722), ADRB2 (rs1042713), NOS3 (rs2070744 and rs1799983), PPARA (rs4253778), PPARD (rs20165209 and rs2267668), PPARGC1A (rs8192678), VEGF-A (rs2010963), TNF-A (rs1800629), IL-6 (rs1800795), CRP (rs1205), SOD2 (rs4880), CAT (rs1001179), GPX1 (rs1050450), and COL5A1 (rs12722). With this information, we categorized the genes according to their metabolic function and relationship to the targeted physiological adaptations to understand the athlete's strengths and weaknesses (Table 1). The characteristics of each profile are explained in the Discussion. Based on this initial assessment, we have defined the target events for the training period in order to plan the periodization of the strength capacities to be developed, with the main event of the period being the Doha World Championship Trials in November 2023 in Salvador, Bahia, Brazil.
Table 1
Genes used for mapping the athlete's trainability capacity
GENES | GENOTYPES | ATHLETE’S GENOTYPES |
TREINABILITY PROFILE |
ACTN3 (rs1815739) | C/C (RR) and T/C (RX) - production of alpha-actinin-3 T/T (XX) - absence of alpha-actinin-3 | CC |
MCT1 (1049434) | A/A - higher production of MCT1 T/T and A/T - lower production of MCT1 | AT |
AGT (rs699) | C/C and T/C - higher production of angiotensinogen T/T - lower production of angiotensinogen | CC |
ACE (rs4341) | G/G and C/G - higher production and action of ACE C/C - lower production and action of ACE | CC |
BDKRB2 (rs1799722) | T/T - higher quantity of bradykinin receptor C/T and C/C - lower quantity of bradykinin receptor | CT |
NOS3 (rs2070744) | T/T and C/T - higher production of NOS3 enzyme C/C - lower production of NOS3 enzyme | CC |
NOS3 (rs1799983) | G/G - higher activity of NOS3 enzyme T/T and G/T - lower activity of NOS3 enzyme | GT |
ADRB2 (1042713) | A/A - higher affinity of receptor to adrenaline A/G and G/G - lower affinity of receptor to adrenaline | GG |
ADAPTATION PROFILE |
PPARA (rs4253778) | G/G and G/C - higher energy production from lipid metabolism C/C - lower energy production from lipid metabolism | CG |
PPARD (rs20165209) | T/T and C/T - stimulates more PPARGC1A expression C/C - stimulates less PPARGC1A expression | CT |
PPARD (rs2267668) | A/A and A/G - stimulates more PPARGC1A expression G/G - stimulates less PPARGC1A expression | AG |
PPARGC1A (rs8192678) | C/C and C/T - higher production of mitochondria T/T - lower production of mitochondria | TT |
VEGFA (rs2010963) | C/C and C/G - higher production of VEGF-A G/G - lower production of VEGF-A | GG |
TNFA (rs1800629) | G/G - lower production of TNF-A A/A and A/G - higher production of TNF-A | GG |
IL6 (rs1800795) | C/C - lower synthesis of IL-6 G/G and C/G - higher synthesis of IL-6 | GG |
CRP (rs1205) | T/T - lower production of CRP C/C and C/T - higher production of CRP | CT |
SOD2 (rs4880) | C/C and T/C - higher activity of SOD2 enzyme T/T - lower activity of SOD2 enzyme | TT |
CAT (rs1001179) | C/C - higher activity of CAT enzyme T/T and C/T - lower activity of CAT enzyme | CT |
GPX1 (rs1050450) | C/C - higher activity of GPX1 enzyme T/T and C/T - lower activity of GPX1 enzyme | CT |
COL5A1 (rs12722) | C/C - produces COL5A1 with adequate structure C/T and T/T - produces COL5A1 with altered structure | CT |
Note: Presentation of all genes, interpretation of each genotype according with literature and athlete’s genotype to Treinability and Adaptation Profiles. |
EXPERIMENTAL DESIGN
Based on the athlete's genotypic profile, we decided to make two main adaptations: one for specific training in the water and one for physical training. For the aquatic training, we decided to increase the frequency of high-volume and high-intensity stimuli. Although the athlete showed a training profile with a greater potential for short and intense stimuli, his adaptation profile indicated a higher potential for long stimuli. In physical training, we initially focused on developing strength endurance to support this change in water training stimulus. In the second phase, we focused on neuromuscular activation (maximal strength) and muscular power (explosive strength) using its genetic potential, always followed by the development of strength resistance. As this is a case study, we have not presented a statistical analysis, but rather descriptive data. Table 2 presents the anthropometric characteristics of the athlete throughout the year. Table 3 shows the minimum and maximum values for each capacity and a percentage delta of the training protocols performed during the training period divided by the strength capacity to be developed.
Table 2
Evolution of the athlete's anthropometric profile throughout the training
Month | Weight (kg) | Height (cm) | IMC (kg/cm2) | Fat Mass (%) | Lean Mass (%) | Skinfold (Ʃ) | Body Density (UA) |
January | 69,5 | 168,5 | 24,5 | 17,4 | 42,7 | 107 | 1,065 |
June | 67,2 | 168,5 | 23,7 | 17,1 | 42,9 | 97 | 1,069 |
July | 66,9 | 168,5 | 23,6 | 16,5 | 43,1 | 94 | 1,069 |
October | 67,3 | 168,5 | 23,7 | 15,2 | 43,9 | 82 | 1,073 |
December | 65,7 | 168,5 | 23,1 | 14,6 | 44,1 | 82 | 1,073 |
Note: Anthropometric profile based on weight, height, IMC, Fat Mass, Lean Mass e Body Density from Bioimpedance analysis. |
Table 3
Minimum, maximum and gain delta of strength capacity through the year
| MINIMUM | MAXIMUM | DELTA % |
MAXIMUM STRENGHT | 92,5 ± 38,6 | 116,25 ± 56,18 | 25% |
POWER STRENGTH | 56,5 ± 42,49 | 81,5 ± 61,69 | 45% |
STRENGHT RESISTANCE | 31,81 ± 21,56 | 71,08 ± 49,27 | 138% |
Note: Minimum and Maximum values of all exercises are represented in Media and Standard Deviation while Delta of the variation between Maximum and Minimum is represented in percentual. |