Download Genetic test for determining athletic abilities

Sports Gene Llc
Genetic test for determining athletic abilities
Physical activity is one of basic human needs and it plays an important role
throughout our lifespan. Genetic factors have certain impact on athletic abilities.
Proper and consistent training, as well as environmental impact, is clearly crucial in
order to achieve maximum results. The environment may either favour or inhibit
the development of characteristics determined by our genes1. Therefore a person
with genetically promising athletic potential may be less successful, because of
pursuing a lifestyle that does not support such potential.
Athletic potential is not determined by just one gene, because overall physical
ability is based on interaction of several genes passed down to us. Thus, in terms of
final outcome, the role of hereditary factors is crucial yet limited, depending first
and foremost on individual decisions and behaviour. The genetic analysis of athletic
abilities determines person’s hereditary predisposition towards success in either
endurance or power sports.
Sports Gene Llc provides a test that determines six different genes:
• ACE, ACTN3 (related to endurance and power sports);
• AMPD1, PPARGC1A (related to endurance sports);
• IL-6, NOS3 (related to power sports).
Test procedure involves taking a DNA2 sample. Sample is taken by scrubbing the
inside of the cheek with a sterile cotton swab.
Genes related to endurance and power sports
ACE - angiotensin converting enzyme. This is an enzyme responsible for regulation
of metabolic processes. Angiotensin takes part in adjusting blood supply in muscles
and consequently, muscle performance.
ACE is the most researched gene in the field of sports genetics. A modification of
ACE (ACE/I) is related to success in endurance sports. In case of people with ACE/I,
1 Gene – hereditary unit that occupies a specific location on a chromosome that directly or indirectly (often by
interaction with other genes) determines the development of one or several characteristics. Genes consist of
nucleotides or base pairs.
2 DNA – desoxyribonucleic acid, carrier of genetic information.
the activity of the enzyme is reduced and such individuals are characterised by
above average endurance at sustained loads. The opposite version (ACE/D) refers to
increased ACE activity, i.e. people with such enzyme activity are characterised by
predisposition to power/sprinting sports. Individuals with heterozygous ACE gene
(ACE/I in one allele and ACE/D in the other) usually perform well both in endurance
and power sports.
ACTN3 (Alpha actinine-3) – actinine-3 is a protein that binds actin. Actinine-3 is
responsible for quick and vigorous muscle contraction. Another important function
of actinine-3 is the differentiation of muscle fibres and regulation of their
metabolism. R577X polymorphism3 of that gene is the most researched ACTN3 gene
variation in athletes. XX-genotype4 causes the absence of actinine-3 protein and thus
such people do better in endurance sports. RR-genotype has the opposite effect and
contributes to gaining better results in power sports.
Genes related to endurance sports
AMPD1 (Adenosine monophosphate deaminase 1) – this is an enzyme that
produces energy within muscle cells when exercising. AMPD1 deficiency causes
fatigue of skeletal muscles. The polymorphism associated with athletic ability is
C34T, where the presence of C-allele5 prevents the skeletal muscles from getting
tired and thus increases the chance of success in endurance sports.
PPARGC1A (Peroxisome proliferator-activated receptor γ coactivator 1 α) is
engaged in regulation of metabolism. PPARGC1A regulates the transportation of
glucose and lipids, and its certain genetic variations improve availability of energy
supply in cells. Polymorphism analysed in the test for athletic ability is Gly482Ser,
Gly (CC) variation of which gives an advantage in endurance sports.
Genes related to power sports
IL-6 (Interleukin 6) – this is a cytokine6 that plays an important role in regulation of
the immune system. This gene is also involved in metabolic regulation. The quantity
of IL-6 in blood increases during the activity that requires certain effort; it enhances
the energy supply of skeletal muscles and helps to maintain the stability of glucose
level by stimulating lipolysis, which is necessary to endure intense efforts. Our test
3 Polymorphism – simultaneous occurrence of several alleles of a single gene.
4 Genotype – entire genetic information about an individual (or a cell), which, in combination with
environmental conditions contributes to the phenotype of an individual (composite of observable
characteristics).
5 Allele – form of a gene; different variations of a single gene.
6 Cytokine- protein secreted by immune cells, which acts on antigens and triggers immune response.
analyses 174C/G polymorphism in IL-6 gene. Presence of G-allele gives an
advantage for engaging in sports that require short-term effort.
NOS3 (Nitric oxide synthase 3) - NO (nitric oxide) plays an important role in
regulating regional blood circulation and blood pressure. Nitric oxide is constantly
released in blood vessels (endothelial7* cells), supported by NO synthase (NOS3).
Besides adjusting the relaxation of blood vessels and supplying tissues with blood, it
is also involved in the processes of healing and regeneration of the myocardial
tissue. NOS3 is associated with the utilisation of glucose in skeletal muscles during
exercise and oxygen consumption in cardiac and skeletal muscles. Regular exercise
increases the activity of NOS3, thus also improving the endurance. Our test
examines NOS3 polymorphism 786 T/C. T-allele refers to increased activity of NOS3
and the individuals with this allele are predisposed towards achieving better results
in power sports.
Further information about the gene tests is available at the address:
Ele Prans
Sports Gene OÜ
[email protected]
7 Endothelium – consists in thin layer of cells between blood and vessel wall. Endothelium controls human
vascular tone and regulates blood clotting. This takes place by release of endothelium-derived NO.