Search Results (246)

Backgrounds: The aim of this pilot study was to evaluate the hierarchical contribution of individual genetic polymorphisms to the variability of autonomic regulation parameters and respiratory function in athletes of different sport specializations using Classification and Regression Tree (CRT) analysis. Methods: The study included athletes divided into two groups: hockey players (n = 48) and martial artists (n = 43). Heart rate variability (LF, HF) parameters and spirometric indices (FEV₁) were assessed. Genetic analysis included 8 single nucleotide polymorphisms (SNPs): IL6 rs1800795, VDR rs731236, KCNJ11 rs5219, ADRB2 rs1042713, ADRB2 rs1042714, TRHR rs16892496, MSTN rs1805086, UCP3 rs1800849. Results: In martial artists, the main predictors were genes responsible for adrenoreceptor sensitivity (ADRB2) and neuroimmune interactions (IL6). In hockey players, the most significant predictors were genes involved in muscle growth (MSTN), energy metabolism (UCP3), and neuroendocrine regulation (TRHR). These findings indicate that similar resting HRV parameters in athletes from different sports may be associated with different genetic polymorphisms, reflecting sport-specific physiological adaptations to training loads. Conclusions: The results highlight the sport-specific nature of genetic determinants of autonomic regulation. In martial artists, genes related to the immuno-adrenergic axis (IL6, ADRB2) appear to play a dominant role, whereas in hockey players neuroendocrine, muscle-metabolic, and mitochondrial factors (TRHR, MSTN, UCP3) demonstrate greater influence. The observed interactions between genotypes and FEV₁ emphasize the importance of transitioning from generalized approaches toward personalized monitoring strategies in sports science. Full article

Background/Objectives: Musculoskeletal soft-tissue injuries are common among physically active individuals and arise from complex interactions between environmental and biological factors. Genetic variation in genes involved in extracellular matrix (ECM) organization may contribute to individual susceptibility to such injuries. This study investigated whether polymorphisms in aggrecan (ACAN, rs2351491 and rs1042631) and fibromodulin (FMOD, rs7543148) genes are associated with susceptibility to sports-related injuries. Methods: The study included 335 physically active Caucasians, comprising 202 participants with a history of non-contact sports-related musculoskeletal injuries and 133 uninjured controls. Genotyping was performed using real-time polymerase chain reaction. Results: No significant associations were observed between the analyzed polymorphisms and overall injury occurrence after correction for multiple comparisons. A nominal association was observed for ACAN rs2351491 in the overall injury comparison under the overdominant model (p = 0.0457), where CT heterozygotes were more frequent among injured participants. The ACAN rs1042631 variant showed nominal associations with anterior cruciate ligament (ACL) injury under the codominant (p = 0.0179), recessive (p = 0.0243), and overdominant (p = 0.0346) models, with the TT genotype associated with lower odds of ACL injury under the recessive model (OR = 0.15, 95% CI: 0.02–1.22). No significant associations were observed for FMOD rs7543148 or for haplotype analysis of ACAN variants. Conclusions: No robust associations were identified between the investigated variants and susceptibility to musculoskeletal soft-tissue injury after correction for multiple testing. Nominal signals observed for ACAN variants, particularly in ACL-focused analyses, warrant further investigation but should be interpreted cautiously and confirmed in larger, independent cohorts. Full article

Background/Objectives: Bud sports (somatic mutations) offer a quick way to develop new bougainvillea varieties by altering specific traits while keeping the desirable genetic background of the original cultivar. However, we still lack a comprehensive understanding of their genomic architecture and the molecular mechanisms behind their formation. This study aimed to characterize the population genomic characteristics of bud sports derived from the commercial variety Bougainvillea × buttiana ‘Miss Manila’. Methods: We employed genotyping by sequencing (GBS) on 39 accessions, including 27 bud sports and 12 conventional varieties. Population genomic analyses, such as principal component analysis (PCA), phylogenetic reconstruction, ADMIXTURE, and diversity statistics (π, He, Tajima’s D), were performed on 64,810 high-quality SNPs. Genome-wide scans for differentiation (FST) and selective sweeps (XP-CLR) were also conducted. Results: Bud sports showed significantly lower genetic diversity (π and He) than conventional varieties, which matches their clonal origin. PCA, phylogenetic, and ADMIXTURE analyses (optimal K = 4) revealed clear genetic differentiation and distinct population structures between the two groups. The bud sport population possessed fewer private alleles and a less negative Tajima’s D value. Genomic scans identified regions under selection in bud sports, with functional annotation pointed to genes involved in ubiquitin-mediated proteolysis and RNA transport. Notably, Bou_119143 (UDP-rhamnose rhamnosyltransferase 1) showed a high mutation frequency specifically in bud sports. Conclusions: We provide the first population-genomic evidence that bud sports of ‘Miss Manila’ are genetically distinct clonal lineages, shaped by somatic mutation and selection. These findings support bud sports as efficient sources for germplasm innovation. The identified genomic regions and candidate genes lay a foundation for future marker-assisted selection and molecular breeding in bougainvillea. Full article

Introduction: Caffeine is the most widely consumed psychoactive stimulant worldwide and acts primarily through antagonism of adenosine A1 and A2A receptors, thereby reducing sleep pressure and promoting wakefulness. Although its alerting and performance-enhancing effects are well established, its influence on sleep-related electroencephalography (EEG) has been investigated across diverse paradigms with substantial methodological heterogeneity. This systematic and mechanistic review aimed to synthesize human evidence on how caffeine affects sleep architecture, quantitative sleep EEG, and neurophysiological markers of sleep homeostasis, and to interpret these findings within current models of adenosine-mediated sleep–wake regulation. Materials and Methods: A systematic search of PubMed/MEDLINE, Web of Science, Scopus, Embase, PsycINFO, ResearchGate, and Google Scholar was conducted for studies published between January 1980 and January 2026, with the final search performed on 10 January 2026. Eligible studies were original human investigations examining caffeine exposure or administration and reporting sleep-related EEG outcomes, including polysomnographic sleep staging, spectral EEG analyses, or other EEG-derived sleep metrics. Two reviewers independently screened records and assessed eligibility, with disagreements resolved by consensus. Data on study design, participant characteristics, caffeine interventions, EEG methodology, and outcomes were extracted using a predefined form. Risk of bias was evaluated using the RoB 2 and ROBINS-I tools. Owing to marked heterogeneity across studies, findings were synthesized narratively within a mechanistic interpretive framework. Results: Thirty-two studies were included. Across highly heterogeneous paradigms—including acute bedtime or evening dosing, daytime or repeated caffeine use before nocturnal sleep, administration during prolonged wakefulness followed by recovery sleep, withdrawal protocols, and ambulatory/home EEG monitoring—the most consistent finding was suppression of low-frequency NREM EEG activity, particularly slow-wave activity and the lowest delta frequencies. Caffeine frequently increased faster EEG activity, including sigma/spindle and beta ranges, producing a lighter, more aroused, and more wake-like sleep EEG profile. These effects were especially prominent during early-night NREM sleep and in recovery sleep after sleep deprivation, where caffeine attenuated the expected homeostatic rebound in low-frequency power. REM-related effects were less consistent, but some studies reported delayed REM timing and subtler alterations in REM EEG. Emerging evidence further suggests that caffeine increases EEG complexity and shifts sleep dynamics toward a more excitation-dominant state. Several studies indicated that quantitative EEG measures were more sensitive than conventional sleep-stage variables in detecting caffeine-related sleep disruption. Dose, timing, habitual caffeine use, withdrawal state, age, circadian context, and adenosinergic genetic variation, particularly involving ADORA2A, moderated the magnitude of effects. We also highlighted the connection between current results and sports and sports science. Conclusions: Caffeine reliably alters the neurophysiological architecture of human sleep in a direction consistent with reduced sleep depth and weakened homeostatic recovery. The overall evidence supports a mechanistic model centered on adenosine receptor antagonism, attenuation of sleep-pressure build-up and expression, and a shift toward greater cortical arousal during sleep. Sleep EEG appears to be a sensitive marker of these effects, often revealing physiological disruption even when conventional sleep architecture changes are modest. Future research should prioritize larger and more diverse samples, pharmacokinetic and pharmacogenetic characterization, and ecologically valid high-resolution sleep monitoring to clarify the real-world and functional consequences of caffeine-induced EEG changes. Full article

The aim of this study was to characterise the pedigree and genetic structure of Polish Sport Horses competing in Grand Prix show jumping events and to assess the implications for international sport horse breeding. Pedigrees of 513 horses were analysed, encompassing a total of 18,836 individuals over a maximum of 16 generations. The completeness and depth of the pedigrees allowed for a reliable estimation of inbreeding coefficients and genetic diversity. The mean inbreeding coefficient was low (0.645%), yet 82% of the horses exhibited some degree of inbreeding. The greatest loss of genetic variability was observed in non-founder generations, most likely due to the intensive use of a limited number of high-value stallions with domestic mares—a bottleneck effect. The most significant founders contributing to the population were the Thoroughbred stallions Ladykiller and Rantzau, as well as the Anglo-Arab stallion Ramzes, highlighting the international influence on the contemporary population. These findings emphasise the need for systematic monitoring of genetic diversity and the strategic use of pedigree data to minimise inbreeding and preserve the genetic potential of Polish Sport Horses for international breeding programmes. Full article

Background: Athletic performance is a multifactorial construct influenced by physiological, biomechanical, and psychological determinants. In recent years, genetic factors have been increasingly recognized as contributors to inter-individual variability in performance. In particular, polymorphisms in genes involved in neurobiological pathways have been associated with cognitive processes relevant to sport performance. However, the distribution of cognition-related genetic variants in elite athletes has not been systematically synthesized. Methods: This meta-analysis aimed to examine the distribution of selected candidate gene polymorphisms previously associated with cognition-related traits in elite athletes compared to control populations. A systematic literature search identified 17 eligible case–control studies investigating allele distributions of COMT rs4680, BDNF rs6265, DRD2 rs1800497, OPRM1 rs1799971, and HTR1A rs6295. Pooled analyses were performed using a fixed-effect model, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Results: Elite athletes demonstrated a significantly higher frequency of the G allele of COMT rs4680 (OR = 1.11; 95% CI: 1.02–1.21; p = 0.013) and the G allele of BDNF rs6265 (OR = 1.40; 95% CI: 1.10–1.77; p = 0.005) compared to controls. No significant differences were observed for HTR1A rs6295, DRD2 rs1800497, or OPRM1 rs1799971 polymorphisms (p > 0.05). Conclusions: This meta-analysis indicates that certain genetic variants previously associated with cognition-related traits, particularly COMT rs4680 and BDNF rs6265, are more frequently observed in elite athletes. These findings suggest a potential association between cognition-related genetic pathways and elite athletic status. However, as the present analysis is based on genetic distribution rather than direct cognitive assessments, the results should be interpreted within the context of association rather than causation. Full article

Bud sport mutations are valuable sources of citrus germplasm innovation and provide an ideal system to dissect genetic regulation of specific traits. The Ponkan mandarin (Citrus reticulata Blanco cv. Ponkan) bud sport mutant “Pumpkin mandarin” displays a Pumpkin-shaped, ribbed peel protrusion phenotype with elevated soluble sugars, but its molecular basis remains unclear. Here, wild-type Ponkan (PG) and Pumpkin mandarin (NG) were compared across six developmental stages (90–240 days after flowering, DAF) for fruit appearance and internal quality, peel firmness, and tissue morphology; RNA-seq was performed on mature peel at 240 DAF. Peel protrusion was detectable as early as flowering. NG showed significantly lower mature fruit weight and consistently higher soluble sugar content throughout development. Peel firmness exhibited a stage-dependent reversal: NG exceeded PG before 180 DAF, PG exceeded NG at 180–210 DAF, and NG again exceeded PG at 240 DAF. RNA-seq generated 41.38 Gb of high-quality data and identified 580 differentially expressed genes (DEGs; 411 upregulated, 169 downregulated). DEGs were enriched in cell wall organization/modification, phenylpropanoid biosynthesis, starch and sucrose metabolism, cutin/wax biosynthesis, and photosynthesis. Expansin (EXP) and GH18 genes were upregulated, while NAM genes encoding NAC transcription factors were downregulated, suggesting an imbalance between cell wall loosening and structural maintenance in protrusion formation. Peel DEGs also included upregulated sucrose synthase (SUS) and sugar transporter (SUT) genes, indicating carbohydrate-related reprogramming in mutant peel. We propose a preliminary network in which NAM may function upstream, cell wall remodeling represents a principal effector module, and the peel carbohydrate metabolism acts as an accompanying module. Full article

Background/Objectives: We aimed to identify eating habits associated with hepatic fat fraction (HFF) and assess effect modification by an established genetic variant for fatty liver disease, PNPLA3 rs738409, among 381 general-risk adolescents. Methods: Dietary intake was assessed using the Block Kids Food Frequency Questionnaire and HFF was measured via magnetic resonance imaging (MRI) at age ~16 years. We first characterized naturally occurring dietary patterns using principal component analysis followed by reduced-rank regression with HFF as the response variable to identify a dietary pattern that is both relevant to the population and associated with HFF. Next, we investigated associations of the dietary pattern with HFF using linear regression models that accounted for maternal gestational diabetes, education, and prenatal smoking and child sex, age, Tanner stage, and BMI. Finally, we tested for a dietary pattern and PNPLA3 rs738409 interaction and stratified by genotype if P-interaction < 0.05. Results: The participants were 16.7 ± 1.2 years (range: 12.6–19.6 years). Half were female (50.4%) and 52.0% identified as non-Hispanic White. The dietary pattern of interest was composed of vegetables, fruit, nuts and seeds, oatmeal, sports bars, crackers and sandwiches, and beef, and was inversely associated with HFF (−0.48 [95% CI: −0.81, −0.16]). Stratified analyses revealed the strongest inverse association observed between the diet pattern score and HFF in the high-risk-variant (GG) group (−2.19 [−4.35, −0.03]), followed by the intermediate-risk (CG) group (−0.43 [−0.77, −0.10]), but not the low-risk (CC) group (−0.32 [−0.77, 0.13]). Conclusions: A diet high in vegetables, fruit, nuts and seeds, oatmeal, sports bars, crackers and sandwiches, and beef—potentially capturing an active, on-the-go lifestyle—is associated with lower HFF during adolescence, especially among individuals at genetic risk. Full article

Coronary atherosclerosis in master athletes represents a paradox: despite the well-established cardiovascular benefits of regular exercise, highly trained endurance athletes show a higher prevalence of coronary plaques than their non-athletic peers. The mechanisms behind this finding are multifactorial, involving sustained high shear stress on the vascular wall, exercise-induced inflammatory activation, altered calcium homeostasis, and interactions between genetic predisposition and sport-specific lifestyle factors. Although athletes tend to exhibit predominantly calcified—potentially more stable—plaques, recent studies highlight that mixed and non-calcified lesions are also present, particularly among lifelong endurance athletes, raising questions about their true long-term risk. Clinically, traditional risk scores often underestimate risk in this population, making multimodal assessment with tools such as coronary calcium scoring and coronary CT angiography essential. This review synthesizes the current knowledge on mechanisms, clinical implications, diagnostic strategies, and prevention of coronary atherosclerosis in athletes, while underscoring key gaps that future research must address. Full article

This study evaluates performance data and genetic merit of the main horse populations competing in Olympic disciplines in Spain and examines their implications for the optimization of official Breeding Programs. Performance records from 2004–2023 were analyzed, including 101,093 participations in Dressage, 319,000 in Show Jumping, and 17,535 in Eventing. These records were combined with pedigree information from 35,589 horses in Dressage, 33,935 in Show Jumping, and 12,102 in Eventing and evaluated using BLUP animal models to obtain standardized Estimated Breeding Values (EBV; mean 100 ± 20) and a Genetic Global Index (GGI). A single unified evaluation model was implemented for all studbooks, enabling a direct comparison of genetic quality across different breeds. Results revealed marked differences in genetic merit and genetic progress among breeds. Similar mean EBVs were obtained for the three analyzed breeds in Dressage in both the complete and the top 10% populations, with positive genetic trends in Caballo de Deporte Español (CDE) and Pura Raza Española (PRE), while the slope of EBV on birth year was not significantly different from zero in Spanish Anglo-Árabe (AA). CDE showed the highest mean EBVs and accuracies in Show Jumping (EBV up to 109.27; R up to 0.72), with a clear positive genetic trend. In Eventing, CDE and AA showed similar EBVs, while PRE consistently exhibited lower ones, although with a comparatively more favorable genetic trend. Analysis of selection intensity indicated that PRE breeders applied the most consistent genetic criteria, preferentially using animals with GGI > 100, whereas CDE and AA showed discrepancies between genetic merit and reproductive use. Overall, the unified Spanish genetic evaluation system provides reliable comparative information across breeds and has enabled measurable genetic progress, although improvements in breeders’ decision-making and in the use of genetic information are needed to maximize selection response. Full article

Vertical jump performance is known to be a moderately heritable trait. However, previous studies on sport genetics have largely relied on candidate-gene approaches, which do not adequately reflect the polygenic nature of explosive performance, particularly among elite badminton players. Therefore, the aim of the present study was to identify genetic variants associated with lower-limb explosive performance, assessed via vertical jump measures, among elite Turkish badminton players using a genome-wide association study (GWAS) approach. The present study included 90 elite male (n = 47) and female (n = 43) badminton players, and 557 non-athletic controls sourced from a public database. Performance-related traits were evaluated through countermovement jump (CMJ), squat jump (SJ), and their differential. Genome-wide genotyping was performed using DNA microarrays, and associations were examined using linear mixed models fixed for sex/gender, body mass index, and sport experience. Although no variants reached genome-wide significance (p < 1.00 × 10⁻⁷), 13 single-nucleotide polymorphisms (SNPs) exceeded the suggestive threshold (p < 1.00 × 10⁻⁵). CMJ-associated variants were rs4905767, rs2911702, rs10246591, and rs9842454; SJ-associated variants were rs55817650, rs62318127, rs115197840, rs78317172, and rs35930589; and CMJ–SJ-associated variants were rs34638064, rs6679342, rs4931233, and rs9442615. The present study provides preliminary evidence that lower-limb explosive performance among elite badminton players is polygenic, involving regulatory and signaling pathways rather than single performance genes. Full article

Background: Microarray testing is commonly used as a screening method for phenotypic traits and common diseases and for genome-wide association studies (GWASs). Despite the known limitations, microarray services can potentially be used as a prescreening tool for chromosomal disorders, which affect approximately 0.4–0.6% of the world population, followed by further clinical diagnostic methods when appropriate. Case Presentation: Here we present a case study of a male subject in his 40s who underwent direct-to-consumer (DTC) genetic testing that utilized microarray, which revealed the absence of Y chromosome haplogroup data despite possessing a typical male phenotype. Subsequent medical consultation, whole-genome sequencing (WGS), and chromosomal analysis confirmed a diagnosis of 46,XX testicular differences of sex development (DSD, formerly XX male syndrome) characterized by the presence of Y chromosome-derived genomic material, including the SRY gene. An initial microarray test gave an indeterminate result for the Y chromosome call rate and an X chromosome heterozygosity result that aligned with the female average. These indeterminate results, coupled with the subject’s male phenotype, led to further testing—WGS, karyotyping, fluorescence in situ hybridization using an SRY Probe, and endocrine testing. From these results, the subject was diagnosed with 46,XX testicular DSD. Conclusions: To our knowledge, this represents the first reported case where 46,XX testicular DSD was diagnosed starting from a DTC test which led to medical consultation and comprehensive genomic and cytogenetic analysis. This case underscores the potential diagnostic value of consumer-initiated DTC microarray screening in the era of genomic medicine and for supporting social needs such as gender confirmation for sports. Full article

Background/Objectives Sports-related musculoskeletal injuries remain a major challenge in physically active populations, with substantial interindividual variability in susceptibility and recovery that cannot be fully explained by biomechanics or genetics alone. Epigenetic mechanisms, including DNA methylation, histone modifications, and non-coding RNAs, provide a dynamic interface through which mechanical loading, inflammation, and metabolic signals regulate gene expression during tissue adaptation and repair. This narrative review synthesizes current evidence on “epigenetically active” dietary supplements and their potential relevance to sports injuries, focusing on methyl donors, polyphenols, omega-3 fatty acids, vitamin D, and redox-active nutrients. Methods Targeted searches of PubMed, Scopus, and Web of Science (2000–2026) were performed using epigenetics-, injury-, exercise-, and supplementation-related terms, prioritizing mechanistic and translational evidence. Results Available data indicate that these compounds can influence molecular mechanisms implicated in musculoskeletal recovery. However, human evidence is largely derived from peripheral tissues and indirect molecular markers, with limited clear linkage to clinically significant injury outcomes such as injury incidence, severity, or return-to-play timelines. Accordingly, these nutrients are best viewed as modulators of recovery-related biology rather than as direct therapeutic agents. Conclusions This review highlights a notable translational gap between mechanistic plausibility and clinical evidence and discusses practical implications for sports nutrition from a personalized perspective. Future research priorities include tissue-relevant epigenetic assessments, integration of multi-omics approaches, and longitudinal trials incorporating injury endpoints. Nutritional epigenomics, therefore, represents a promising avenue to support musculoskeletal health while underscoring the need for rigorous clinical validation. Full article

Choline is an essential nutrient whose physiological importance has not yet been sufficiently recognized by many European nutrition authorities. Despite convincing evidence of its crucial role in liver lipid export, one-carbon metabolism, cell membrane integrity, and nervous system development, explicit dietary recommendations for choline are still lacking in most European countries. In contrast, its importance has long been recognized in the national guidelines of the United States, Australia, China, and other regions. The current and rapidly spreading dietary shifts toward plant-based and vegan diets—characterized by a lower proportion of animal foods, the main sources of choline—increase the risk of suboptimal intake in broad segments of the population. Given the considerable interindividual differences in endogenous choline biosynthesis, which are influenced by sex hormones, physical activity, nutrient interactions, and genetic polymorphisms, adequate dietary intake is essential to meet physiological needs, especially during periods of increased demand such as pregnancy, lactation, and high-performance sports. This narrative review summarizes the evidence for the essentiality of choline, outlines the rationale for deriving intake recommendations for different life stages, and identifies an urgent need for coordinated action by European nutrition societies to address the growing risk of population-wide undersupply. Full article

This study aimed to explore genetic variants associated with serum albumin (ALB) levels in Chinese winter sports athletes using genome-wide association analysis (GWAS) and to investigate potential regulatory mechanisms using bioinformatics annotation. A total of 382 Chinese winter sports athletes were recruited. ALB levels were compared between elite and non-elite athletes. GWAS was conducted using PLINK v1.9, with ALB as the phenotype and sex, age, and principal components as covariates. Associated SNPs were annotated using GTEx and SNPnexus. No significant differences were observed in ALB levels between elite and non-elite male or female athletes, and ALB levels in all groups followed a normal distribution. We identified 113 SNPs reaching a suggestive significance threshold (p < 1 × 10⁻⁵), with per-variant variance explained estimates (7.11–11.76%) reflecting model fit within this cohort. A stepwise regression model highlighted nine candidate SNPs that together explained 51.1% of ALB variance in the study sample. Functional annotation suggested that several variants show eQTL or sQTL signals in tissues relevant to ALB biology (e.g., liver and kidney), and pathway enrichment analyses implicated amino acid and hormone metabolism. Overall, these findings are hypothesis-generating; independent replication in additional and ancestry-matched cohorts (and follow-up functional studies) is required to confirm the robustness of the associations and clarify causal mechanisms. Full article