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. 2025 Apr 17;16(4):461.
doi: 10.3390/genes16040461.

Genetic Profiling and Performance Optimization in Elite Combat Sport Athletes: A Cross-Sectional Study Based on Total Genetic Score Analysis

Andrea Pagliaro  1 , Anna Alioto  1 , Alessia Boatta  1   2   3 , Giuseppe Messina  2 , Patrik Drid  4 , Paolo Milazzo  1 , Cristina Cortis  5 , Andrea Fusco  6 , Sonya Vasto  7   8 , Patrizia Proia  1 , Sara Baldassano  7
Affiliations

Genetic Profiling and Performance Optimization in Elite Combat Sport Athletes: A Cross-Sectional Study Based on Total Genetic Score Analysis

Andrea Pagliaro et al. Genes (Basel). .

Abstract

Background/objectives: The interplay between genetics and athletic performance has garnered significant attention, particularly regarding performance-enhancing polymorphisms (PEPs) and their role in determining key traits that are critical for athletic success. Therefore, this study investigates the genetic predispositions related to peroxisome proliferator-activated receptor alpha (PPARα), angiotensin converting enzyme (ACE), and creatine kinase muscle-type (CKM) gene variants and their potential influence on elite point-fighting (PF) athletes.

Methods: A total of 24 elite PF athletes (12 women and 12 men; age = 22.1 ± 5.8 years; body mass = 66.1 ± 15.4 kg; and height = 173.0 ± 9.5 cm, BMI = 21.8 ± 3.2 kg·m-2) participated in the study. Saliva samples were collected for DNA extraction and genotyping, analyzing the prevalence of key genetic markers, including the D allele and ID genotype for the ACE variant, the G allele and GG genotype for PPARα, and the A allele and AA genotype for CKM.

Results: Genotyping revealed a high prevalence of key genetic markers among participants, with the D allele (58.33%) and ID genotype (66.67%) for the ACE variant, the G allele (77.08%) and GG genotype (54.17%) for PPARα, and the A allele (77.08%) with an AA genotype (62.50%) for CKM. The Total Genetic Score (TGS) analysis indicated a mixed-oriented genetic predisposition across the sample.

Conclusions: Although PF athletes showed mixed aerobic/anaerobic genetic profiles, their training routines were primarily strength-oriented, suggesting a possible misalignment between genetic predispositions and their current training approach. These findings offer preliminary insights into the genetic characteristics of elite PF athletes and may inform future investigations into the potential role of genetic information in guiding training strategies.

Keywords: performance-enhancing polymorphism; personalized training; point-fighting; total genetic score.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Percentage of the genotype distribution for the three gene variants. ACE: Angiotensin I Converting Enzyme; PPARα: Peroxisome Proliferator-Activated Receptors; CKM: Creatine Kinase Muscle-Type.
Figure 2
Figure 2
Total genetic score (TGS).
See this image and copyright information in PMC

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