Lifestyle and health

Genetic risk

For someone who would like to outline at least the majority of health risk factors, monographic publications would probably not be enough—these factors are so diverse and multifaceted.

Practically, this includes everything that surrounds a person and that constitutes his internal environment, if it is perceived by the body in an unusual quantity, in an unusual form, and not in the order that corresponds to the stereotype of functions.

And yet, in this ocean of influences, we identify the most significant, noticeable, most common or specific to certain specific pathological reactions, conditions and call them risk factors. True, as noted, such isolation is artificial, because in life there are no separate influences and sometimes it is very difficult to differentiate them. Nevertheless, it is extremely important to find the leading link in the chain of phenomena, since without this it is impossible to build effective prevention and pathogenetic (based on knowledge of the mechanism of diseases) treatment.

Let's continue to talk. Why (besides the fact that human genetics is a young science) is hereditary, genetic risk factors rarely mentioned? It is also obvious because, according to modern views, any external or internal agent, if it somehow affects the genetic basis, so to speak, the genetic infrastructure - the gene pool of the organism, causes or intensifies pathological processes, can be considered as a risk factor. We have just been reminded of the enormous variety of external and internal influences. And if they are directly or indirectly related to the gene pool (and experts assure that this is possible), then genetic risk factors generally turn into risk factors, the name of which is legion. Any of them becomes genetic at the same time. Hereditary specificity is lost. Then why take separately certain genetic factors?

Such conclusions seem to be legitimate against the background of the achievements of genetics, its fundamental postulates, including the one that says: “One gene (unit of heredity) - one enzyme.”

That is, genes control all biochemical reactions. From here it is not difficult to imagine that genes are directly related to everything that happens in the body and with the body. They are contained in every cell, and the number of cells is immense: it is assumed that by the time of birth a child has 200 billion cells. So, if enzymatic reactions as links in metabolic processes are carried out under the control of genes, if - the basis of life - and a wide variety of external and internal influences directly or indirectly influence genes, then, indeed, what specific genetic risk factors can we talk about?

However, science, as we understand the structure of genes, their properties, and relationships, is increasingly establishing the hereditary nature of many diseases and malformations, points to the circumstances of the formation of pathogenic (anomaly-causing) genes, and therefore rightfully raises the question of the genetic nature of a number of diseases and disorders. The most important prerequisite for this: not every factor in the external or internal environment of the body and does not always lead to such changes in genes and chromosomes - in the apparatus of heredity - that become a direct, direct or indirect, indirect cause of diseases; Not every gene pool receives pathogenic genes during general evolution or during the individual life of an organism.

First, let's understand the terminology. There is no need to confuse inherited predisposition, congenital family diseases, family history, etc. - these concepts are not at all equivalent.

Let's take congenital diseases. They are like a pathological burden that the child receives at birth. But not everyone has a hereditary nature - many, including the so-called family diseases, are not associated with a “breakdown” of the heredity apparatus, but depend on disturbances in intrauterine development, exposure to various toxins, etc. Hereditary diseases themselves are those that are caused by changes in genes and chromosomes that serve as a causal, etiological factor. If changes in genes and chromosomes, without being the cause of the disease, still affect its pathogenesis (mechanism), then it is more correct to talk about hereditary predisposition. In such cases, the “mechanism is triggered” most often by already familiar external risk factors - smoking, intoxication, mental stress, etc. Already from this category it is clear how many diseases are of a hereditary nature or predisposition. No one knows their exact number, especially since every year, as human genetics advances, more and more new hereditary disorders are discovered. It is no coincidence that the directory talks about 1000 hereditary syndromes - endocrine, nervous, neuromuscular systems, blood, musculoskeletal system, skin, hair, mucous membranes, digestive organs, heart and blood vessels, respiratory system

Let us recall that chromosomes are structural elements of the cell nucleus in which genes are arranged in a linear order. For each living organism, its own number of chromosomes is strictly established; In humans, somatic (tissue-forming) cells contain 23 pairs or 46 chromosomes. Moreover, 22 pairs are exactly the same for men and women, and the 23rd pair is different, which determines gender. Sex cells (gametes) have half the set of chromosomes, and during fertilization, when the female and male gametes merge, its integrity is restored. Relatively recently, in the 50s, it was possible to establish that the substance of chromosomes, together with histone proteins, consists of deoxyribonucleic acid (DNA) molecules twisted in the form of two helices - the carrier of genetic information; its individual sections correspond to certain genes, the primary units of heredity. These or other specific characteristics of an individual do not directly depend on them, as previously thought, but they control enzymes, links in the biochemical processes through which the transmission of characteristics is carried out.

We mentioned that the set of genes (genotype), received from parents and ultimately determining the biological “appearance” of the organism, is a very stable, conservative value, formed as a result of evolution, containing both normal, healthy and pathological changes in genes - mutations. In addition, mutations can occur throughout an individual's life. All of this, immediately or over time, directly or indirectly affects health, and thus represents a genetic risk.

Human genetics, medical genetics, having accumulated a store of knowledge, has come to the point where it has become possible to identify risk factors and even, so to speak, their technology, conditions and mechanisms of occurrence of hereditary diseases. Here, first of all, it is important to detect the primary product of gene mutations - changes in the enzymes that are controlled by them. Every year more and more such transformations are being deciphered, leading to diseases or disease syndromes. For example, disease is associated with defects in glycogen metabolism. Until specific genetic factors were found, the nature of many congenital sufferings seemed incomprehensible, mysterious, and was interpreted incorrectly. What assumptions were not made about the disease described by the English physician Down back in 1886! mental retardation. The truth was revealed almost 100 years later, in 1959, when an extra 47th chromosome was discovered in patients. Since then, many other chromosomal diseases have been identified. Or an example of a different kind. Phenylketonuria described Norwegian doctor Felling in 1934, accompanied by convulsions, skin depigmentation and other signs, causes mental and physical retardation in its victims. What's the matter? Due to a gene mutation, the enzyme phenylalanine hydroxylase “disappears,” which affects the metabolism of the amino acid phenylalanine, which is very important for the body, and the substances that depend on it. Phenylketopuria is a typical gene disease among enzymatic diseases (pathological changes in enzymes). Today there are several hundred of them known.

Neurologists, therapists, and surgeons study a variety of hereditary diseases, to which entire monographs and manuals are devoted. In the recently published book by D. V. Kalinina and E. I. Gusev, attention is paid to lesions of the nervous system and connective tissue “popin” disorders of the metabolism of lipids, amino acids, glycosaminoglycaps, etc., controlled by genes. Such diseases are usually systemic in nature, characterized by a variety of symptoms - polymorphism of the clinical picture, and are difficult to trace in relatives, because there can be successful “skips” between generations. Deviation from the norm, for example, lipid metabolism, the so-called enzymatic block, causes the accumulation of lipids intracellularly, which breaks the structure of the nervous tissue, “clogs” the conductive pathways of the nervous system, etc. All this affects not only somatic functions, but also mental activities.

In the described group of hereditary diseases - mucopolydoses and mucopolysaccharidoses, due to gene mutations, “accumulation of certain substances occurs both in the connective tissue and in the brain”1. Hereditary disorders of amino acid metabolism are also characterized by “a sharp increase in amino acid content in the blood and urine”2.

Without further citing excerpts from this book, dedicated to a wide class of hereditary diseases, we emphasize: in each case, researchers look for a connection between changes in genes or chromosomes with strictly specific enzymatic and metabolic disorders, which entails an imbalance of substances that ensure the normal functions of organs and tissues, excess of various metabolites.

A similar picture is observed in other diseases that have become the subject of special research and publications. For example, in the monograph, which deals with hereditary syndromes of multiple congenital malformations, it is noted that they are based on “chromosomal pathology (determined by light microscopy, abnormalities in the number or structure of chromosomes), gene mutations, and the effect of unfavorable environmental factors on the intrauterine fetus (teratogens)". The result is deformation of the arms, legs, skull, face, anomaly in the internal organs, mental underdevelopment up to mental retardation, etc. Developmental defects are not such a rare occurrence. According to this monograph, they are diagnosed in 2.5 percent of newborns.

We mentioned that approximately 3 thousand hereditary diseases and syndromes are now known, their number is increasing with the development of medical genetics. Theoretically, if we take into account the entire sum of genes in a person, it is legitimate to assume that a mutation can occur with each of them, which will cause certain pathological consequences. But in practice there are no such scales and, probably, never will be, because chromosomes and genes rarely undergo changes, the hereditary apparatus is extremely conservative. According to WHO materials, approximately 4 percent of children are susceptible to hereditary diseases and developmental defects, and some of them appear and progress later, after birth. Down's disease and phenylketonuria, which are considered relatively common, occur no more often than one case per thousand and per 5-10 thousand newborns. However, one cannot be deluded by these seemingly modest figures, since the danger of gene mutations has increased due to the risk factors discussed above.

Of fundamental importance for genetics was the evidence of gene variability dating back to the 30s of the current century. Since then, they began to carefully study

I physical, chemical, biological and other influences that can cause mutations, gradually penetrating the secrets of heredity, removing the cover of mystery and inaccessibility from it. It turned out that mutations are provoked by penetrating radiation, chemicals (in particular, pesticides, fungicides, herbicides widely used in agriculture), viral attacks, etc. It has become possible to “manage” genes, and the issue of genetic engineering has come up on the agenda. Moreover, the problem of risk factors for hereditary diseases has been specified; in essence, it is not fundamentally different from the problem of risk factors for non-hereditary diseases: here and there it is necessary to look for agents initially responsible for the occurrence of pathological processes. It has become clear that genetic diseases ultimately depend on external environmental influences, which are usually realized not immediately, but through a chain of generations, an evolving genotype. Meanwhile, discovering this chain and identifying its pathogenic links is incomparably more difficult than during the body’s direct reaction to risk factors - during the reaction of the phenotype, that is, the changes that occur during individual life. But if this is so, then the “cause of causes” of all diseases, both hereditary and non-hereditary, lies in the specific influences of the external and internal environment, or rather, only the external environment, since the internal is a transformed external, derived from it, like the entire human body - part of the surrounding world, nature. (Here we do not touch upon the social essence of man.) Healthy life

In principle, diseases with a hereditary predisposition, congenital non-hereditary disorders, and developmental defects have come a long way. In the first case, as mentioned above, the genetic defect manifests itself against the background of adverse effects, often risk factors. In the second case, defects in cells and tissues (embryopathies) associated with the presence of pathogenic factors more often occur. The developing fetus can be “hampered” by the mother’s health status: diseases of the cardiovascular system, metabolic diseases (diabetes), infectious agents, various intoxications, radiation, chemicals, and finally, alcohol. Naturally, the human embryo is most vulnerable in the early stages, during the embryonic period, when there is a greater danger of harming the nervous system, heart, eyes, internal organs, bones, etc.

This explains the importance of protecting women’s health, especially during pregnancy, and the role of antenatal prevention—protecting the child before birth. By protecting the mother, we thereby guarantee the normal development of future generations.

The position that all diseases - both hereditary and non-hereditary - in a general theoretical, fundamental aspect are subject to the same laws, that they have the same nature and risk factors, is extremely important in practical terms: an opportunity opens up, a confident prospect for their treatment, and moreover - overcoming and prevention. It also follows from this that the principles of treatment and prevention are also common to all diseases. Indeed, if we turn to special works on medical genetics, they do not contain anything unexpected: here is the introduction into the body of missing substances (replacement therapy), and the removal of excess ones, and diet therapy, and physiotherapy of all types; here are measures to protect against ionizing radiation, from other chemical and physical agents that are risk factors, from pathogenic microorganisms, and much more that is used from the arsenal of medicine.

Genetics is on the threshold of, so to speak, “targeted” influence on mutant genes. All with great success is being mastered latest tactic“corrections” of genes using physical (radiation), chemical and biological (viruses, etc.) methods. And the term “gene surgery” is not taken from the realm of science fiction. And the possibility of creating a healthy gene to replace the pathological one that causes the disease is already real, as evidenced by modern achievements. In particular, we have now learned to isolate some genes in their pure form and find ways to obtain them artificially.

And yet, despite the commonality of the principles of treatment and prevention, one cannot help but mention certain specificities, which relate primarily to the features of diagnosis, identifying signs and determining the risk of hereditary diseases. To establish this in the early stages, the practice of genetic sifting - screening - is being expanded. Through clinical observations, laboratory tests of blood, urine, with the help of special microbiological, chromatographic studies, etc., signs of hereditary diseases are looked for in sample groups and the entire population (primarily in newborns), and through genealogical and other methods, the risk of probable inherited diseases is identified defeats. For this type of work, genetic counseling is organized. Programs have been drawn up based on the experience of a number of countries; for now they are aimed at finding carriers of the most common diseases (at least 1 case per 50 thousand people). But the boundaries of sifting are being pushed, which is very important.

Screening and counseling today are no longer the concern of only scientific institutions; genetic consultations are opening in many cities as part of the healthcare system.

Genetic examinations have established some specific conditions and risk factors for the occurrence of hereditary diseases, which must be taken into account, along with general ones, in relation to other diseases for the purpose of effective prevention and for organizing clinical observation of those at risk or healthy - carriers of mutant genes that can cause pathology in offspring . This refers, for example, to consanguineous marriages. In such families there are significantly more sick children, early and general child mortality and stillbirths are several times higher. Marriages between cousins ​​are especially common (in Europe and North America- approximately 1 percent), and among their children (50 percent or more) various health disorders are common. For a number of generations, a rare, severe disease, “royal porphyria,” persisted, which was transmitted in the Hanoverian dynasty, the Stuart and Hohenzolleri dynasties. It was accompanied by the release of porphilinogen in the urine (hence its port wine color), abdominal pain, mental disorders, etc. And consanguineous marriages pose an incomparably greater danger among isolated peoples and ethnic groups where this has become a custom. Relatives-spouses are more likely than non-relatives to be carriers of pathological genes; women are at risk of spontaneous abortions and miscarriages;

The development of medical genetics and the practical application of its methods, including genealogical, population, screening and counseling, help to identify the prevalence of diseases with a hereditary predisposition and, again, to clarify the degree of their risk factors. Very convincing observations have been accumulated. Let's say, about schizophrenia, manic-depressive psychosis (MDP). At the beginning of this century, the outstanding German psychiatrist E. Kraepelin spoke about 80 percent of hereditary burden of MDP. From a modern point of view, if one parent is sick, TMD is transmitted to 25-35 percent of children, and if both parents are sick - 60-70 percent. The predisposition is aggravated by hereditary burden and other diseases and pathological conditions, from which it follows that there are some other factors that increase the likelihood of the occurrence of MDP. For people with a lesser degree of predisposition, psychogenic and other provoking influences are sufficient. The author of a monograph on MDP, Yu. L. Nuller, writes in this regard that one of the mechanisms of attacks of depression “is caused by the depletion of the compensatory capabilities of regulatory systems, which is caused by excessively prolonged and intense emotional stress. Obviously, in cases where there is a hereditary predisposition to depression (i.e., endogenous weakness of some parts of the regulatory system), a less significant effect of stress on these parts is required for the onset of the disease.”

According to a number of Soviet and foreign scientists, strokes and sudden death in those who suffer from hypertension occur 4-5 times more often if there is a family history (parents have the same disease); the number of cardiovascular diseases among relatives of patients with atherosclerosis is twice as high as compared to healthy individuals; hereditary burden was noted in bronchial asthma (16 percent of cases), schizophrenia (40 percent, if both parents are sick), stomach and duodenal ulcers (8.5 percent), etc. These examples are taken from the book of Academician L.P. Bochkov “Human Genetics and Hereditary Pathology”2. It also contains an extensive list of 12 groups of diseases with hereditary predisposition. We believe that it is useful to reproduce it.

Of interest is the summary data contained in the book on risk factors for hereditary diseases and diseases with a hereditary predisposition in representatives of different races, nationalities, and ethnic groups. For example, the Irish have a high hereditary predisposition to glaucoma and congenital anomalies of the nervous system, the Japanese have a high hereditary predisposition to cleft lip (“cleft lip”), and the Africans have a high hereditary predisposition to tuberculosis, hypertension, and systemic lupus erythematosus.

So, from the many risk factors that can cause diseases and influence their course, we have selected seven that are given the greatest importance in modern, primarily chronic, pathology.

It is these factors, emanating primarily from the external environment and generated by human behavior unfavorable to his health, that form the basis of today’s type or profile of pathology - to a greater extent determine its scale and structure, morbidity and mortality in the population of economically developed countries. If it were possible to reduce, let alone eliminate, this risk, general and infant mortality would significantly decrease, average life expectancy would increase, and man would approach his natural, species limits, his powerful life potential, which is so mercilessly and sometimes unreasonably wasted. That is why overcoming risk factors should have brought and did bring noticeable results.

We, in essence, answered the question of what health depends on, although, as was emphasized, much of this is in the power of man. Even hereditary risk factors (if we consider that heredity is the transmission of external environmental influences through a chain of generations, and the environment is to a large extent shaped and changed by people in accordance with their needs) are ultimately in his hands.

This means that it is more correct to pose the question this way: not only on what, but also on whom health depends. And specifically, what it directly depends on. And here we come to the concept of “lifestyle”.
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"Psychological pollution"

When interviewing parents, great attention should be paid to the risk factors for gastroenterological diseases in children, since the pathology of the digestive organs occupies one of the leading places in the structure of morbidity among athletes.
These factors primarily include:
- neurotic conditions;
- foci of infection in the nasopharynx;
- worms;
- allergic conditions;
- Botkin's disease (viral hepatitis).
Information regarding duodenal ulcer must be collected especially scrupulously, since a hereditary predisposition to it in males is detected in 40.6% of cases, and against the background of a family history, complications of peptic ulcer are observed 2 times more often than in the absence of it. It should be borne in mind that in the practice of sports medicine, peptic ulcer disease is usually diagnosed in representatives of cyclic sports aimed at primarily developing endurance (middle, long and ultra-long distance running, road cycling, skiing
). At the same time, its clinical picture in athletes (as well as in young people in general) can be quite blurred.
When asking the mother about the course of pregnancy, it is necessary to carefully find out whether she had the main symptoms characteristic of kidney pathology: high blood pressure, edema, changes in urine.
No less important is what kind of pregnancy there was - full-term or premature. This question should
wives are interested primarily because premature children, like children born from multiple pregnancies, represent a risk group for iron deficiency anemia. This is due to the fact that already at birth they need additional absorption of 100-150 mg of iron, since almost everyone is already 6-8 months of age in their own way. physical development correspond to the development of a full-term baby. It is the absence of this additional absorption of iron that leads to the almost natural development of iron deficiency anemia or latent iron deficiency in children in the first two years of life, and may also be a factor predisposing to the development of iron deficiency and anemia in later periods of life, including in adults.
If the child's mother reports a long, difficult labor involving repeated stimulation and minor obstetric operations, additional questioning is necessary to determine whether the child has any complaints related to disturbances in cervical spine spine (dizziness, instability, sensation of noise and ringing in the ears, headache, sleep disorders, fatigue, decreased mental performance, swelling of the eyelids and face in the morning).
In such cases, before admission to sports, additional consultation with a neurologist, orthopedist-traumatologist and chiropractor is necessary.
One of the very serious points is to clarify the diseases suffered by the child.
At the same time, one should keep in mind such, at first glance, “not very serious” diseases as sore throats, influenza, acute respiratory infections and acute respiratory viral infections, which, as a rule, indicate the presence of chronic foci of infection.
tion and reduction of the body’s immunological reactivity.
Particular attention should be paid to issues that make it possible to identify allergically altered reactivity of the body in the child being examined.
In such children, the possibility of developing bronchial asthma of physical exertion is very likely (see Chapter 14). Particular care should be taken when carrying out additional fortification. This, of course, does not mean that sports are completely closed to such children, but they should be under special supervision and sports doctor, and a trainer.
AND NEW TERMS____________________
Bronchial asthma is a chronic disease of the bronchopulmonary system, caused by pathology of the immune system and characterized primarily by bronchospasm.
Bronchial asthma of physical exertion is bronchial asthma caused by physical exercise.
To identify a child’s possible pathological hereditary predisposition and high risk of hidden pathology when interviewing parents, it is convenient to use a simplified version of the questionnaire (Makarova G. A., 1992).
1. Did or do any of your family members (including relatives of the child’s mother and father) have congenital heart defects (yes/no)?
2. Have there been any cases of sudden death before the age of 50 in your family (yes/no)?
3. Have any of your family members had cases of sudden paroxysmal increase in heart rate? heart rate- Heart rate from 160 to 250 beats/min (yes/no)?
4. Have there been any cases of myocardial infarction or stroke in your family before the age of 50 (yes/no)?
5. Did the child’s mother have swelling, changes in urine, or high blood pressure during pregnancy (yes/no)?
6. Was the pregnancy full-term or premature (full-term/premature)?
7. As a child, did your child have a desire to eat chalk, earth, sniff varnishes, paints, gasoline (yes/no)?
8. Did your child often get (or get) colds (yes/no)?
9. Has the mother or father of the child been diagnosed with duodenal ulcer (yes/no)?
10. Does your child have or have had:
a) foci of infection in the nasopharynx (chronic runny nose, inflammation of the tonsils, middle ear, paranasal sinuses, adenoids) (yes/no);
b) neurosis (yes/no);
c) giardiasis (yes/no);
d) ascariasis (yes/no)?
11. Do you often use (or have you used) antibiotics to treat your child (yes/no)?
12. Did your child have Botkin’s disease (yes/no)?
13. Does your child have allergies (yes/no)?
14. Has your child ever had a traumatic brain injury (yes/no)?

"Risk Management" - Correction. Example: planning. Planning. Reviewing documentation Collecting information Checklists Analyzing assumptions Creating diagrams. Got. Student set of materials for the lesson. How is PMBOK related to REEBOK? Process 1: Planning. Management of risks. What can be done to reduce the likelihood of risk?

“Olympic sport” - 6. In what year was the Olympic flag of modern times raised for the first time? Olympic Games? 4. "For sporting talent"(the children who participated in competitions and stood up for the honor of the school in the region are awarded); Class hour. 5. "For healthy image life" (awarded to children who participate in sports clubs and sections at school);

“History of the sport” - Equipment. The club crest design is based on the coat of arms of the city of Manchester. In 2003 he made his debut for the England national team. The IIHF and NHL rules differ in the size of the hockey rink. Hockey (English: Gate. Field. My favorite club. They play indoors on a court measuring 40x20 m. Hockey. Handball. Team uniform.

“Business risks” - Inflation risk. Regulatory. Topic 4. Financial environment of entrepreneurship and business risks. Historical and genetic aspect. 4. Basic classifications of business risks (2) Theory of D. Keynes. Risk reduction. 2. Basic theories of business risks. Short-term Permanent. By duration.

“Sport of the Moscow Region” - Physical education, recreation and sports facilities in the Moscow Region. Salary range for athletes and coaches at Olympic Training Centers in the Moscow Region. On remuneration of workers government agencies physical culture and sports of the Moscow region. The number of medals won by athletes from the Moscow region at all-Russian and international competitions.

“History of Sports” - Fill out the diagram: Archery. Sport. Sports – physical exercise in order to strengthen the body. Sports and teenagers. The problem of excess weight. 5 reasons to play sports. Football. Which of the disputants do you agree with? One states: “Sport, first of all, gives strong sensations and emotions!” Ancient Rome. Amateur.

The most pressing problems of sports genetics

Study of risk factors for sudden death and increased blood clots

Currently, the most significant from a health point of view is the timely prevention of socially significant diseases of the cardiovascular system, especially blood coagulation systems .

According to the materials of the 117th session of the World Health Organization from December 8 2005 (EB117/28) recommendations were given and approved on the conduct and feasibility of gene mutation analysis F5 (F.V.) – Leiden (1691G>A (Arg506Gln), the altered product of which is one of the key links in the pathogenesis of venous thrombosis, the consequences of which can lead to death (for example, sudden death from thromboembolism). The Leiden mutation is associated with a 3-7 fold increase in the risk of thrombosis The risk of thrombosis in carriers of the Leiden mutation may increase in the presence of a number of provoking factors, such as. surgical interventions , prolonged immobilization, injuries , in women - taking oral contraceptives or hormonal therapy. It is worth noting that even without high risk thrombosis caused by the Leiden mutation, increases significantly in the presence of additional genetic defects leading to increased thrombus formation.

For example, the presence of two mutations at once (factor 5 Leiden and prothrombin 20210G>A) increases the risk of thrombosis several times compared to carriers of isolated mutations, and the risk of thrombosis increases significantly in the presence of both factor 5 Leiden mutation and polymorphism MTHFR 677C>T. Therefore: for early detection of pathology, timely prevention and possible solution to the issue of engaging in professional sports, information is needed on the genetic mechanisms in the development of disorders of the entire blood coagulation system

If genetic disorders are detected, based on the results of genetic tests, an individual approach to admission to sports is recommended after additional examination ( biochemistry , immunology, instrumental analysis, etc.). As a preventive measure, it is recommended to seek specialized advice from a doctor. cardiologist And hematologist, conducting a detailed coagulogram with targeted analysis for APTT (activated partial thromboplastin time),fibrinogen, prothrombin, INR (international normalized ratio), platelet aggregation, thrombin time V calm state and immediately after training load . Compliance with these recommendations will significantly reduce the risk of developing the above diseases and improve the athlete’s quality of life.

Genetics of arterial hypertension.

Other important genes to study are genes whose products regulate blood pressure . Analysis of these genes will allow us to identify the risk of developing arterial hypertension, and in accordance with this, develop a preventive examination regimen, conduct systematic monitoring of blood pressure, and develop appropriate recommendations, which will further eliminate the risk of developing this disease. The analysis of these genes is of key importance from the point of view of sports selection (sprinter-stayer).

Genetics of the lipid spectrum. Research aimed at optimizing and individualizing the training process.

Thanks to studying metabolism and energy metabolism genes you can adjust the training process taking into account individual characteristics. Analysis of these genes makes it possible to predict the rate of switching from aerobic to anaerobic metabolism and the characteristics of the breakdown of fats and carbohydrates. Based on these data, it is also possible to build individual sports nutrition regimens for better absorption of its components. The presence of mutations in genes responsible for the rate of fatty acid metabolism can have a significant impact on the effectiveness of lipid supplements. For example, the presence of the G allele of the gene PPARA The use of both lipid and carbohydrate supplements is recommended, since the metabolism of fats and carbohydrates will not be impaired. If you have the C allele of the gene PPARA, It is desirable to avoid the use of lipid supplements, due to a decrease in fat metabolism, and to preferentially use carbohydrate supplements.

Research on genes for sports selection.

Study genes whose products regulate the structure of striated muscle tissue aimed at more competent determination of the priority type of loads, an individual approach to training process, optimizing training time to achieve the most high results, taking into account the features muscle fibers, as well as the intensity of energy processes in them.

Testing is important to prepare for competitions genes associated with the control of the body's reserve capabilities . In the presence of mutations in these genes, the risk of chronicity and recurrence of therapeutic pathology increases, and the body's reserve capabilities are reduced.

Genetics of bone and connective tissue metabolism.

From the point of view of recovery after injuries, as well as for the purpose of preventing fractures (especially in girls and women), testing is important genes for bone and connective tissue metabolism .

Study of genetic markers of motivation (psychogenetics).

Studying neurotransmitter genes will allow us to judge the neuropsychic and stress resistance of athletes, as well as their craving for sports.

"Genetic diet" and pharmacogenetics in sports.

Research is just as important. genes whose products regulate the biotransformation of drugs, dietary supplements and food . The study of mutations in them makes it possible now to individually select the dose of the drug, exclude certain types of drugs and nutrition, and wisely select dietary supplements and restorative substances.

Ethnogenomic research.

A separate direction is ethnogenomic studies– research that takes into account the characteristics of each specific region or people, fixed at the genetic level

The ethics of genetic testing in sports.

It must be emphasized that participation in any genetic testing should be voluntary. However, the question of when and how to provide a test taker with negative information about his or her health remains a rather delicate issue. It is advisable that this problem be solved by a geneticist or a psychologist. It is possible that in certain cases the issuance of such information, taking into account the characteristics of the patient’s psyche, may be delayed. In accordance with the same recommendations, the results of genetic testing should be provided to the person being tested if they are important for his health, the health of his family members and relatives.