Žmogaus genomo sričių, susijusių su greita ir ilgalaike adaptacija fiziniam krūviui, įvairovės analizė

The genetic diversity of physical capacity in the Lithuanian population has a pattern similar to that of other populations. The knowledge of the individual genomes of the athletes is especially important for sports theory, practice and medicine. This research is devoted to the issue of the effect of genetic factors on the components of sporting physical capacity. We have accumulated a sample of the Lithuanian elite athletes which was studied genetically according to a phenotype. We have created a DNA biobase of the Lithuanian elite athletes of various sporting disciplines and collected information about the genotypes and phenotypes of physical development and functional capacity of the athletes. This is the first time in Lithuania that the elite athletes were investigated according to allelic distribution of 6 candidate gene variants most associated with physical capacity. The genetic diversity of the physical capacity in the Lithuanian population has a pattern manifested by variation in the allele/genotype frequencies of the selected candidate gene markers in the Lithuanian athlete groups and general population. The indexes of physical development and functional capacity of the Lithuanian athletes correspond to the elite levels. Inherited qualities and adaptation to physical loads of the athletes can be assessed by statistical analysis of phenotypic indexes. Each group of athletes investigated had a typical genotype/allele combination. The genotypes of the gene variants studied have different influence on the physical capacity of males and females and are statistically significantly associated with phenotypic indexes. We have also determined that speed and strength qualities are more inherited than acquired compared to the endurance qualities

Analysis of the variety of human genome loci associated with fast and long–lasting adaptation to the load of physical activity

The genetic diversity of physical capacity in the Lithuanian population has a pattern similar to that of other populations. The knowledge of the individual genomes of the athletes is especially important for sports theory, practice and medicine. This research is devoted to the issue of the effect of genetic factors on the components of sporting physical capacity. We have accumulated a sample of the Lithuanian elite athletes which was studied genetically according to a phenotype. We have created a DNA biobase of the Lithuanian elite athletes of various sporting disciplines and collected information about the genotypes and phenotypes of physical development and functional capacity of the athletes. This is the first time in Lithuania that the elite athletes were investigated according to allelic distribution of 6 candidate gene variants most associated with physical capacity. The genetic diversity of the physical capacity in the Lithuanian population has a pattern manifested by variation in the allele/genotype frequencies of the selected candidate gene markers in the Lithuanian athlete groups and general population. The indexes of physical development and functional capacity of the Lithuanian athletes correspond to the elite levels. Inherited qualities and adaptation to physical loads of the athletes can be assessed by statistical analysis of phenotypic indexes. Each group of athletes investigated had a typical genotype/allele combination. The genotypes of the gene variants studied have different influence on the physical capacity of males and females and are statistically significantly associated with phenotypic indexes. We have also determined that speed and strength qualities are more inherited than acquired compared to the endurance qualities

The investigation of t-lymphocytes proliferation receptors and apoptosis initiative receptors in bronchoalveolar lavage fluid and peripheral blood of patients with lung sarcoidosis

Sarcoidosis is a chronic granulomatous lung disease of unknown origin. The accumulation of activated CD4+ T cells at sites of inflammation represents an early stage in granuloma formation. Antigenic presentation stimulates T cells to proliferate via the production of interleukin IL-2. In the last few years evidence has arisen for dysregulation of apoptosis in a number of different pulmonary diseases. Mechanisms governing the normal resolution of inflammatory processes are poorly understood. CD95, also known as Fas antigen, has the ability to activate the cellular death program „apoptosis“, which can be critical for limiting an inflammatory response. This study aimed to investigate the apoptotic and proliferating markers of lung and peripheral blood T-lymphocytes. MATERIAL. The invesigation material was gathered in Vilnius University hospital „Santariškių klinikos“ in the Immunological laboratory. 45 patients with sarcoidosis (the average age was 38,8±10,5 years) were investigated. The patients were divided into two groups: the ones having an active form of sarcoidosis (n=20) and the others non-active form of sarcoidosis (n=22). In addition, 5 healthy volunteers participated in the invesigation. Lymphocyte analysis was performed using flow cytometric method. RESULTS. The percentage of lymphocytes expressing IL-2 receptor &#945; chain (CD25) in patients with sarcoidosis (active form (21.0±7,7%) and non-active form (16,0±8,2%)) in BAL fluid is higher (p<0,05) comparend with healthy controls (10,5±6,2%). The percentage of CD3+CD25+ lymphocytes in blood of patients with sarcoidosis of active form was significantly higher than in the blood of healthy controls (29,9±4,9% versus 22,2±4,7%). During the invesigation of the expression of apoptosis initiative receptor (CD95) on the T-lymphocytes we observed that the percentage of CD3+CD95+ lymphocytes in BAL fluid was significantly higher than in peripheral blood (p<0,05) when comparing sarcoidic patients with active and non-active forms and healthy controls. In both patients’ groups (active form 84,8±7,2%; non-active form 85,4±8,8%) there were more BAL fluid CD3+CD95+ lymphocytes (p<0,05) than in BAL fluid samples of healthy controls (46,3±12,2%). CONCLUSIONS. Our results shows that BAL fluid lymphocytes seem to be resistant to apoptosis and it might contribute to the accumulation of inflammatory cells in the lungs, persistenie of inflammation, and the development and maintenance of granuloma

Association of COL12A1 rs970547 polymorphism with elite athlete status

The role of genetics, as an intrinsic factor, in research of sports performance increases with every passing year. The polymorphism rs970547 of the COL12A1 gene is one of the most promising genetic markers linked to soft-tissue injuries. This study aimed to investigate whether COL12A1 rs970547 genotypes are associated with elite Lithuanian athletes from high-risk various sports, such as running, throwing, jumping, and football. The study involved 293 Lithuanian elite athletes and 287 healthy untrained individuals from the Lithuanian population. The results of this study suggest that the rs970547 T allele and TT genotype were significantly over-represented in the total athlete group compared to controls (p < 0.05). There was a significantly lower C allele frequency in the sprint/power group (16.9%) as well as in footballers (19.4%) compared to controls (33.3%, p < 0.05). Positive selection analysis results showed that the derived allele experiences selection pressure within the general population of Lithuanians. Taken together, the findings of this study suggested that COL12A1 rs970547 (T allele and TT genotype) is associated with elite athlete status, especially with sprint/power athlete and footballer`s performance. However, larger-scale studies within dif- ferent ethnic backgrounds are still warranted to confirm the findings of our study

Impact of PPARA, PPARD and PPARG genetic variants on elite athletic performance: a systematic literature review

Fizinis pajėgumas yra daugiaveiksnis paveldimas požymis, kuris yra nulemtas daugelio aplinkos arba vidinių veiksnių bei sąveikos tarp jų. Genetiniai veiksniai sudaro 44–68 % fizinio pajėgumo fenotipo kintamumą, todėl genomo ypatybių, būdingų didelio meistriškumo sportininkams, supratimas ypač svarbus sporto teorijai, praktikai ir medicinai. Koordinuotus genų raiškos pokyčius reguliuoja transkripcijos faktoriai, tokie kaip peroksisomų proliferatoriaus aktyvintų receptorių (PPAR) genų šeimos atstovai ir jų koaktyvatoriai. Dėl PPAR genų šeimos reikšmės sportuojančio organizmo adaptacijai, medžiagų apykaitai ir energijos homeostazei bei tyrimų, kurie galėtų apibendrinti esamų naujausių studijų duomenis, stygiaus, buvo suformuluotas šio darbo tikslas – atlikti sisteminę literatūros apžvalgą bei įvertinti, ar PPAR genų šeimos polimorfizmai PPARA rs4253778, PPARD rs2016520, PPARG rs1801282 turi įtakos aukšto meistriškumo sportininkų fiziniam pajėgumui. Mokslinės literatūros sisteminės apžvalgos procedūros buvo vykdomos laikantis PRISMA sisteminės apžvalgos rengimo reikalavimų. Sisteminė kompiuterinė literatūros paieška atlikta „PubMed“ ir „Web of Science“ duomenų bazėse naudojant raktinius žodžius (PPAR, peroxisome proliferator activated receptor, sport, athlete, endurance, sprint, power, sport genomic, polymorphism). Į tyrimą įtraukta 10 elektroniniu formatu publikuotų straipsnių anglų kalba, atrinktų pagal įtraukimo į apžvalgą ir atmetimo kriterijus. Mokslinėse publikacijose autoriai, taikant atvejo ir kontrolės asociacijos tyrimus, analizavo PPARA rs4253778, PPARD rs2016520, PPARG rs1801282 polimorfizmus pagrindinėse sportininkų grupėse: (1) aerobinės ištvermės sporto šakose, (2) jėgos ir greitumo bei (3) mišriose (aerobinio-anaerobinio pajėgumo) sporto grupėse. Keliuose straipsniuose autoriai sportininkus suskirstė pagal elitiškumą ir analizavo genotipų ir alelių dažnių pasiskirtymą tarp elito, subelito ir neelito sportininkų grupių. Didžioji dalis tyrimų atlikta Rusijos, Lenkijos, Izraelio ir Lietuvos mokslininkų. PPARA genas yra vienas pirmųjų nustatytų genų kandidatų, siejamų su fiziniu pajėgumu ir elito sportininko statusu. Atlikus sisteminę literatūros apžvalgą, nustatyta, kad su elito sportininko statusu siejami PPARA (rs4253778) C alelis ir G alelis bei PPARG (rs1801282) Ala alelis. Nustatyta, kad PPARA (rs4253778) C alelis ir PPARG (rs1801282) Ala alelis siejamas su jėgos ir greitumo arba mišriomis sporto grupėmis, PPARA G alelis ir PPARD (rs2016520) C alelis siejami su ištvermės sporto grupėmis, o PPARD (rs2016520) T alelis su mišriomis sporto grupėmis. Tačiau PPARD polimorfizmo reikšmė sportininkų fiziniam pajėgumui yra abejotina dėl mažo publikacijų kiekio, todėl reikalingi papildomi tyrimai su didesne tiriamųjų kohorta. Atlikus sisteminę literatūros apžvalgą buvo nustatyta, kad PPAR genų šeimos polimorfizmai turi įtakos aukšto meistriškumo sportininkų fiziniam pajėgumui. PPARA (rs4253778) ir PPARG (rs1801282) galėtų būti naudojami vertinant galimybes pasiekti elito sportininko statusą. PPARA C alelis ir PPARG Ala alelis galėtų būti žymenys, predisponuojantys aukštiems rezultatams pasiekti greitumo ir jėgos arba komandinių sporto šakų grupėse. PPARA G alelis yra veiksnys, kuris siejamas su aukštų rezultatų pasiekimu ištvermės sporto grupėse.Sports performance is an enormously complex multifactorial phenomenon, and is determined by numerous intrinsic and extrinsic factors as well as by the interaction between them. Genetic factors account for 44–68% of the variability of physical performance phenotypes, making an understanding of the genomic characteristics of elite athletes particularly important in sports theory, practice, and medicine. The coordinated changes in gene expression of response to training are regulated by transcriptional factors, such as PPARs gene family and their coactivators. Due to the importance of PPARs gene family for athlete’s adaptation, metabolism and energy homeostasis, and the lack of research that could summarize the latest available studies, the aim of this systematic review was to review the literature and determine which PPARs gene family polymorphisms PPARA rs4253778, PPARD rs2016520, PPARG rs1801282 are associated with elite sports performance. The systematic review was performed according to the PRISMA guidelines. The systematic computerized literature search was conducted in PubMed and the Web of Science databases, using a combination of the following search terms: “PPAR, peroxisome proliferator activated receptor, sport, athlete, endurance, sprint, power, sport genomic, polymorphism”. The study included 10 electronically published articles in English, selected according to the listed inclusion and exclusion criteria. In scientific publications, the authors analyzed PPARA rs4253778, PPARD rs2016520, PPARG rs1801282 polymorphisms in the main groups of athletes: (1) aerobic endurance sports, (2) sprint-power and (3) mixed (aerobic-anaerobic capacity) sports groups. In several articles, the authors analyzed the frequency distribution of genotypes and alleles among groups of elite, sub-elite, and non-elite athletes. Most of the research was conducted by scientists from Russia, Poland, Israel and Lithuania. The PPARA gene is one of the first identified gene candidates associated with physical ability and elite athlete status. A systematic review of the literature has shown that PPARA (rs4253778) C allele and G allele, and PPARG (rs1801282) Ala allele are associated with elite athlete status. The PPARA (rs4253778) C allele and PPARG (rs1801282) Ala allele are associated with sprint and power or mixed sports groups, and PPARA (rs4253778) G allele and PPARD (rs2016520) C allele are associated with endurance sports groups, while PPARD T allele is associated with mixed sports groups. But the significance of PPARD polymorphism for the physical performance of elite athletes is questionable, due to the small number of publications, and therefore additional studies with a larger cohort of subjects are needed. A systematic review of the literature showed that PPARs polymorphisms have an impact on the physical performance of elite athletes. PPARA (rs4253778) and PPARG (rs1801282) could be used to assess the chances of achieving elite athlete status. The PPARA C allele and PPARG Alaallele are predisposed to sprint and power or team events. PPARA G alleleis associated with endurance elite athletes status

Association of PPARA gene variant with sprint and power ability of Lithuanian elite athletes

Mokslinės praktinės konferencijos „Ateities sporto mokslas: moksliniais įrodymais pagrįsta sporto praktika ir medicina“ tezės, Vilnius, 2020 m. spalio mėnMokytojų rengimo institutasVilniaus universitetasVytauto Didžiojo universiteta

Association of AGT (rs699) and AGTR1 (rs5186) polymorphisms with physical performance phenotype of Lithuanian athletes

Mokytojų rengimo institutasVilniaus universitetasVytauto Didžiojo universiteta

Association of AMPD1 and CKMM polymorphisms with physical performance phenotype of Lithuanian elite athletes

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference, Gothenburg, Sweden, June 15-18, 2019: Posters : P18.14BMokytojų rengimo institutasVilniaus universitetasVytauto Didžiojo universiteta