Acta Medica Mediterranea, 2018, 34: 1857

TOTAL GENETIC SCORE: AN INSTRUMENT TO IMPROVE THE PERFORMANCE IN THE ELITE

ATHLETES

ALESSANDRA AMATO1§, GIUSEPPE MESSINA1§, VALENTINA CONTRÒ1, ALESSIA SACCO1, PATRIZIA PROIA1
Dipartimento di Scienze Psicologiche, Pedagogiche e della Formazione, Università degli Studi di Palermo, Italia
1

The authors equally contributed

§

ABSTRACT

Introduction: The purpose of this study was to demonstrate the effectiveness of the TGS calculation method to identify
genetic athletic predisposition in two groups of basketball and soccer players based on genetics analysis.
Through the genetic profile we calculated, by an algorithm, the TGS (Total Genetic Score) in both groups; this idea comes
from the concept that it’s better to personalized workout based on athlete genetic profile. Identifying specifically performance
demands (based on the metabolism system used during performance, aerobic or anaerobic) and paying attention to the perfor-
mance-enhancing genes and their polymorphisms, is important focus it in order to build personalized and successful training for
every single athlete.
Materials and methods: We considered two groups of professional athletes: 21 basketball players and 21 soccer players
both involved in professional championships. For the genetic analysis a saliva sample was taken from athletes, and the polymor-
phisms were analysed: ACE; ACTN3; CK-MM; PPARα; PPARγC1; NRF2 A/G; NRF2 C/T. Each genotype was scored from 0 to 2
depending on whether they were more related to resistance or power activity. The sum of these scores generates the total TGS for
each athlete and was compared both for resistance and power.
Results: Our results indicate that professional basketball players have a power-related TGS higher than the resistance-
related conversely the football players, that have a resistance-related TGS greater than power-related one.
Conclusion: TGS can be a useful tool to identify the genetic predisposition of the athlete starting from the genetic analysis
of some PEPs, regardless of the type and number of genes analysed.

Keywords: genetics analysis, polymorphisms, performance demands, basketball, soccer.

DOI: 10.19193/0393-6384_2018_6_287

Received March 30, 2018; Accepted June 20, 2018

Introduction also to hypothesize a gene therapy that aims to cre-

“The Human Genome Project” is an important
project that has provided a complete genetic model
of human life determining the sequence of
nucleotide base pairs that form DNA, mapping and
identifying genes of the human genome (about 20-
25000 genes) both from a physical and functional
level(1); thanks also this project, genetics contribu-
tion is increasingly used in various fields. There is
genetics use in medicine (to improve the diagnosis
of certain diseases and to prevent their onset, but
ate drugs suitable for individual genetic profiles), in
forensic science (to recognize DNA to those who
have committed a crime, recognizes paternity,
returns to the phenotypic characteristics of the indi-
vidual) and in recent years this important biology
discipline seems to influencing the complicated and
fascinating sport world. Genetics in sport can be
used to recognize a particular predisposition to
develop injuries. There are several factors that can
influence this predisposition: for example, a good
training on proprioception and postural stabiliza-
tion, for example, is useful to prevent injuries(2);
often injuries causes are attributed to exclusively
environmental factors such as artificial turfs.
However this hypothesis was denied by Bianco et
al that didn’t find any statistical correlation between
injury and different surface of the court(3).
Recent studies investigate the correspondence
between a specific genetic profile and a good sports
performance, but others studies investigate if and
how a particular training protocol can influence
genes expression that can determine some impor-
tant factors in a sports performance. Therefore, new
and effective techniques allow us to study the dif-
ferent aspects and variations of human genetic pro-
file and to identify some genetic polymorphisms
associated with the performance and variability of
sports performance. Several recent works show that
more than 200 gene variants are associated with fit-
ness-related phenotypes and consequently with
sports performance, these are defined as: PEPs(4,5)
(Performance Enhancing Polymorphisms).
Among the most important PEPs, one of the
most investigated is PPAR (Peroxisome peroxide-
activated receptors) that is involved in mitochondri-
al activity and therefore in the triglycerides metabo-
lism(6) and seem to have a correlation with BMI.
These should be useful to planning a good workout,
and the relative feeding with an adequate fats
intake(7). The different pre-workout athletes nutri-
tion has allowed studying the metabolism reactions
in relation to the nutrients taken and the genetic
background. On the other hand, it’s demonstrated
that training can influence PPAR activity(8). Another
important PEPs is ACE (angiotensin-converting
enzyme) in which the “I” allele predisposes to a
better endurance performance(9), and is linked to
elite soccer player status(10). This type of study could
be the basis to build individualized training plans
that allow athletes to get the best performance.
However, the real innovation of this study
should be to understand how to take advance of the
genetic predisposition of athletes in psycho-physi-
cal training for a specific performance. An impor-
tant study, for instance, claims that a workout that
follows the athlete’s genetic profile will allow the
athlete to achieve the better performance both in
endurance and power activities compared to the
same athlete trained with “opposite” characteristics
to their genetic predisposition(11).
Consequently, it will be fundamental to have
an overview of the genes alleles that can influence
performance, to structure an effective training. But
how do you establish what is athletes genetic pre-
disposition starting from allelic variants?
Certainly, we will have a clearer and more com-
plete genetic profile, more genes will be taken into
consideration at the same time. Many recent studies
differently apply to the PEPs polymorphisms an
algorithm to identify the TGS(11,12,13,14) (Total Genetic
Score). The TGS actually numerically quantify ath-
lete genetic predisposition considering and correlate
multiple PEPs together. The innovative thing about
TGS is the possibility to compare less PEPs by giv-
ing them a numerical value (avoid to analyse a lot of
gene variants losing more time). Nowadays we know
about 200 PEPs, each of which plays an important
role in sports performance. The following table sum-
marizes the characteristics of all genes analysed in
our study (with particular reference to their influence
on power and endurance activities that we will use to
calculate the TGS) in basketball players and soccer
players group (table 1).
Table 1: Characteristics of the genetic variants analysed
in the study.
These sports are usually classified as mixed
anaerobic-aerobic training but actually, considering
the genetic characteristics, we will demonstrate
subtle but fundamental differences in performance
demands and therefore in athletic training.
Methods
Forty-two professional athletes were recruit-
ed in our study: 21 basketball players (age 26 ± 6)
militants in the Italian first and second league and
21 professional soccer players (age 22.5 ±2.2).
Everyone signed an informed consent about geno-
Total Genetic Score: an instrument to improve the performance in the elite athletes 1859

typing. We considered basketball and soccer
because they are classified within the metabolic
demands: alternating anaerobic-aerobic activity.
Our purpose was to give an important support in
building the best training protocol for specific dis-
ciplines take into account genetics in addition to
the usual match analysis.
Genotyping
For the genetic analysis, we collected a saliva
sample in 10 ml sterile tube from each participant.
Each sample was stored in the freezer before its
use and DNA was extracted from each of them
using a specific extraction kit. We analysed the
gene polymorphisms below mentioned: ACE I/D;
PPARα G/C; PPARgC1 G/S; ACTN3 R/X; NRF-2
A/G; NRF-2 C/T and CK-MM A/G. All the geno-
typing was performed using a molecular biology
technique called PCR (polymerase chain reation)
followed by enzymatic digestion if necessary,
according with previously paper in which were
described(10). We have considered some different
polymorphisms between two groups to verify if
the TGS method can be applied even considering
different PEPs. However, we did an isolated
analysis and comparison among three genes poly-
morphisms genotyped to both groups (ACE, CK-
MM and ACTN3) to verify the reliability of the
TGS both if you analyse few PEPs.
athlete. This mechanism was repeated twice to
obtain a useful TGS to power or endurance perfor-
mance for each athlete.
Statistical analysis
Mean and standard deviations of TGS have
been calculated with STATISTICA 8 software.
The differences between TGS mean for basketball
and soccer players were analysed using parametric
test (T-test). P values of <0.05 were considered
statistically significant.
Results
The allelic distribution from the genetic
analysis of soccer players group was: PPARα
genotypic proportion was 67% GG, 36% GC and
0% CC; PPARGC1A Ser482Gly was 71 % GG, 24
% SG and 5% SS; NRF2 A/G was 0% AA, 86%
AG and 14% GG; NRF2 C/T was 90% CC, 5%
CT and 5% TT (Figure 1). Other PEPs were
analyse in both groups; regarding soccer players
the results shown in figure 2 were: CK-MM geno-
type distribution was 52% AA, 43% AG and 5%
GG, while ACE genotype proportions of DD, ID
and II was respectively 19%, 52% and 29% and
ACTN3 was 66.67% RX, 28.57% RR, 4.76% XX
(Figure 2).

Calculation of Total Genotype Score

An algorithm was used to incorporate all the
genotype scores favourable to each individual with
a simple additive model, to quantify the combined
influence of polymorphisms associated with the
status of soccer and basketball professional player
using the following formula(12):
TGS (100/2n)×(Gs1 + Gs2+ Gs3 +…+ Gsn) Figure 1: Allelic distribution for PPARα, PPARγC1,
in which n is number of genetic polymor- NRF A/G and C/T genes in soccer players.
phisms and Gs is genotype score for each gene
and for each athlete. In particular, we assigned a
score to each genotype according to the ones con-
sidered “advantageous” for endurance or power
activities (table 1). Therefore, the “advantageous”
homozygous genotype will receive a score of 2,
the heterozygous genotype a score of 1 and the
remaining homozygous genotype a score of 0. The
total score was also expressed as a percentage and
defined as “total genotype score” (TGS). A 100%
TGS score represents “perfect” polygenic profile Figure 2: Allelic distribution for ACE, CK-MM and
(related to endurance or power activities) and a 0 ACTN3 genes in basketball and soccer players group.
TGS score represents the “worst” profile for the
1860
The same genetic analysis were performed on
professional basketball players group and the
allele distribution was compared with these comes
out from the analysis on soccer players group.
ACE genotype 81% DD, 19% ID and 0% II; con-
cerning CK-MM gene we found 24% with GG
genotype, 33% with AG genotype and 43% with
AA genotype; concerning ACTN3 gene polymor-
phisms we found 43% RR, 57% RX and 0% XX
genotype (Figure 2).
To each genotype has been assigned value 0,
1 or 2 based on the arrangement to endurance or
power performance as previously described. The
total of these values for each gene, provide the
personal TGS for each athlete. The TGS mean for
soccer players (considering the seven genes, ACE,
ACTN3, NRF AG/CT, CK-MM, PPARα,
PPARγC1) was 43,52±7,46 for power predisposi-
tion and 56,44±7,46 for endurance inclination (p
value = 0.00). Instead, the TGS mean for soccer
players (considering only three gene: ACE,
ACTN3 and CK-MM) was 45,25±15,04 for power
activities and 54,77±15,04 for endurance activities
with p value = 0,05, confirming the trend obtained
from the analysis performed on 7 gene variants.
An opposite trend was pulled out in basketball
players group towards resistance predisposition
that was lower then power activities (32,55± 15,35
vs 67,47± 15,35 p value = 0,00) (table 2).
A of power activities (p value = 0.00). Finally, the
B tically significant: in fact the TGS power of bas-
Table 2: TGS mean of power and endurance for both
groups. In panel A the score obtained only in soccer
players groups; in panel B the comparison of the scores
in both groups.
Discussion
In this study, we have shown a new way to
detect the resistance or power predisposition in
athletes that performed two different sports: bas-
ketball and soccer. Usually, it’s used to consider
the genetic background analysing as many gene
variants as possible; we demonstrated that, using
the TGS score, it possible obtain the same result
Alessandra Amato, Giuseppe Messina et Al
both if you consider seven or three polymorphisms
(see soccer players group results). The results
showed that elite basketball players predominantly
have a genetic profile oriented to power activities,
while professional soccer players have a genetic
profile oriented towards endurance performance.
The difference between the two groups was detect-
ed through the application of an algorithm that
gave the TGS(11,12,13).
The results obtained from this analysis
showed in soccer players group a statistically sig-
nificant difference, resistance-oriented, between
endurance and power when we consider the seven
genes (p value = 0.00). Not statistically significant
difference was detected when we considered only
three genes (p value = 0.05) but the trend confirms
the hypothesis of endurance-oriented predisposi-
tion in soccer players group. We have applied the
TGS algorithm on soccer players groups twice:
analysing seven genotypes or considering only
three genotypes in common with the two group of
athletes, to validate the score generate with TGS
depending on the number and the different PEPs
analysed. However, athlete’s genetic profile evalu-
ation could be even more accurate considering
more genes and this is certainly a guideline for
next studies.
Also, there is statistically significant differ-
ence between TGS for endurance and power on
average in basketball group, but inclined in favour
difference between the score obtained with TGS
algorithm, explored ACE, CK-MM and ACTN3
genotyping in both groups. The results was statis-
ketball players was higher than soccer group (p
value = 0.00) (figure 3) and TGS endurance of
soccer players was higher than TGS endurance of
basketball group (p value = 0.00) (figure 4).
Figure 3: Graphical representation of power TGS trend
(for ACE, ACTN3 and CK-MM genes) for each subject
in both group.
Total Genetic Score: an instrument to improve the performance in the elite athletes
Figure 4: Graphical representation of endurance TGS
trend (for ACE, ACTN3 and CK-MM genes) for each
subject in both group.
These results confirm that genetic back-
ground predisposing to power basketball players
and to endurance soccer players. Understanding
the difference between the two disciplines classi-
fied as combined aerobic-anaerobic training could
be very important to build an effective training to
improve athletes’ performance. Jones in 2016 (9)
demonstrated how, starting from the knowledge of
the genetic background, we can get the best result
in all performance (both aerobic and anaerobic
training); in fact the hypothesis is that the athletes
trained with a protocol that follow the characteris-
tics of their genetic profiles, improves both
endurance and power. This genetics application in
sport could be the turning point in the elite sport
training. However, further investigation will be
necessary to demonstrate the correlation between
TGS and different PEPs, using a great number of
athletes involved in different sport.
Conclusions
The purpose of this study was to identify the
genetic predisposition of the athletes starting from
the genetic analysis of some PEPs, using a new
tool, the TGS score, faster then those previously
described (analysed as many genes as possible).
Probably the knowledge of genetic predisposition
it will help to setup an individualized training pro-
tocol based on genetic background to achieve the
best performance from athletes. More studies are
needed to confirm this preliminary results and the
usefulness of the TGS score calculation.
1861
References
1) Collins FS, Morgan M, Patrinos A. The human genome
project: lessons from large-scale biology. Science, 11:
286, 2003.
2) Patti, A., Bianco, A., Messina, G., Traina, M., Palma,
A. et al. The influence of the stomatognathic system on
explosive strength: A pilot study. Journal of Physical
Therapy Science 2016 Jan; 28(1): 72-75.
3) Bianco, A., Spedicato, M., Petrucci, M., Paoli, A.,
Palma, A. et al. A prospective analysis of the injury
incidence of young male professional football players
on artificial turf, Asian Journal of Sports Medicine
2016 Mar; 7(1): e28425.
4) Rankinen T., Roth S., Bray M. et al. Advances in
Exercise, Fitness, and Performance Genomics. Med Sci
Sports Exerc.2010; 42 (5): 835-46.
5) Ostrander EA, Huson HJ, Ostrander GK. Genetics of
athletic performance. Annu Rev Genom Humen Genet
2009; 10:407-29.
6) Proia P., Bianco A., Schiera G., Saladino P., Valentina
contrò, Giovanni Caramazza, Marcello Traina, Keith
A grimaldi, Antonio Palma, Antonio Paoli. PPARα
gene variants as predicted performance-enhancing
polymorphisms in professional italian soccer players.
Open Access Journal of Sports Medicine 2014:5 273-
278.
7) Amato A, Sacco A, Macchiarella A, Contrò V, Sabatino
E, et al. Influence of nutrition and genetics on perfor-
mance: a pilot study in a group of gymnasts. Hum Mov.
2017; 18 (3): 12-16; doi: 10.1515/humo-2017-0029.
8) Proia P., Bianco A., Schiera G., Saladino P., Pomara F.,
et al. The effects of a 3-week training on basal bio-
markers in professional soccer players. J Sports Med
Phys Fitness 2012; 52: 102-6.
9) Cléber Rene Alves, Tiago Fernandes, José Ribeiro
Lemos Jr et al. Aerobic exercise training differentially
affects ACE C- and N-domain activities in humans:
Interactions with ACE I/D polymorphism and associa-
tion with vascular reactivity. Journal of the Renin-
Angiotensin Aldosterone System April-June 2018: 1-
10.
10) Contrò V, Schiera G, Abbruzzo A, Bianco A, Amato A,
et al. An innovative way to highlight the power of each
polymorphism on elite athletes phenotype expression.
Eur J Transl Myol. 2018 Mar 1; 28(1):7186.
11) Jones N, Kiely J, Suraci B, Collins DJ, de Lorenzo D,
et al. A genetic-based algorithm for personalized resis-
tance training. Biol. Sport 2016; 33: 117-126
12) David C. Hughes, Stephen H. Day, Ildus I. Ahmetov &
Alun G. Williams. Genetics of muscle strength and
power: Polygenic profile similarity limits skeletal mus-
cle performance Journal of Sports Sciences, October
2011; 29(13): 1425-1434
13) Emiliya S. Egorova, Alyona V. Borisova, Leysan J.
Mustafina, Alina A. Arkhipova, Rashid T. Gabbasov, et
al. The polygenic profile of Russian football players.
Journal of Sports Sciences, 2014
http://dx.doi.org/10.1080/02640414.2014.898853
1862 Alessandra Amato, Giuseppe Messina et Al

14) Ruben Charlier, Maarten Caspers, Sara Knaeps,

Evelien Mertens, Diether Lambrechts, et al. Limited
potential of genetic predisposition scores to predict
muscle mass and strength performance in Flemish
Caucasians between 19 and 73 years of age. Physiol
Genomics 49: 160 -166, 2017.
15) Ma F, Yang Y, Li X, Zhou F, Gao C, Li M, Gao L. The
association of sport performance with ACE and
ACTN3 genetic polymorphisms: a systematic review
and meta-analysis. PLoS One. 2013; 8(1): e54685.
16) Wang G, Mikami E, Chiu LL, DE Perini A, Deason M,
et al. Association analysis of ACE and ACTN3 in elite
Caucasian and East Asian swimmers. Med Sci Sports
Exerc. 2013;45 (5):892-900.
17) Yang N, Arthur DG, Gulbin JP, Hahn AG, Beggs AH,
et al. ACTN3 genotype is associated with human elite
athletic performance. Am J Hum Genet. 2003; 73(3):
627-631.
18) Fedotovskaia ON, Popov DV, Vinogradova OL,
Akhmetov II. Association of the muscle- specific crea-
tine kinase (CKMM) gene polymorphism with physical
performance of athletes. Fiziol Cheloveka. 2012 Jan-
Feb; 38 (1): 105-9.
19) He Z, Hu Y, Feng L et al. NRF2 genotype improves
endurance capacity in response to training. Int J Sports
Med 2007; 28(9): 717-721.
20) Bruni F, Polosa PL, Gadaleta MN, Cantatore P, Roberti
M. Nuclear respiratory factor 2 induces the expression
of many but not all human proteins acting in mitochon-
drial DNA transcription and replication. J Biol Chem.
2010 Feb 5; 285(6): 3939-48.
21) Ahmetov II, Gavrilov DN, Astratenkova IV,
Druzhevskaya AM, Malinin AV, et al. The association
of ACE, ACTN3 and PPARA gene variants with
strength phenotypes in middle school-age children. J
Physiol Sci. 2013; 63(1): 79-85.
22) Lopez-Leon S, Tuvblad C, Forero DA. Sports genetics:
the PPARA gene and athletes’ high ability in endurance
sports. A systematic review and meta-analysis. Biol
Sport. 2016; 33: 3-6.
23) Lucia A, Gómez-Gallego F, Barroso I, Rabadán M,
Bandrés F, et al. PPARGC1A genotype (Gly482Ser) _________
predicts exceptional endurance capacity in European Corresponding author
men. J Appl Physiol (1985). 2005; 99(1): 344-348. GIUSEPPE MESSINA
24) MaciejewskaA, SawczukM, CieszczykP, Mozhayskaya Dipartimento di Scienze Psicologiche, Pedagogiche e della
IA, Ahmetov II. The PPARGC1A gene Gly482Ser in Formazione, Università degli Studi di Palermo, Italia
Polish and Russian athletes. J Sports Sci. 2012; 30(1): Email: giuseppe.messina17@unipa.it
101-113. (Italy)