Aleksandra Garbacz

Ligament injuries are common among athletes and are influenced by both environmental and genetic factors. Growth factor signaling plays a central role in fibroblast proliferation, extracellular matrix remodeling, tissue regeneration, and ligament healing. However, the contribution of genetic variants in TGFB1 and PDGFA to susceptibility to non-contact knee ligament rupture (NCKLR) remains unclear. This exploratory case–control study investigated the association of TGFB1 (rs1800470, rs1800469) and PDGFA (rs1800814, rs2070958, rs62433334) polymorphisms, as well as PDGFA haplotypes and gene–gene interactions, with NCKLR risk in elite handball players. The study included 331 elite athletes, comprising 102 players with a history of NCKLR and 229 uninjured controls. Genotyping was performed using Real-Time PCR, followed by single-locus, haplotype, and multifactor dimensionality reduction (MDR) analyses. FDR correction was applied for multiple comparisons. No significant associations were observed for the investigated TGFB1 variants. In contrast, PDGFA rs2070958 was associated with NCKLR status in the recessive model (OR = 2.00; 95% CI 1.16–3.46; p = 0.01); because rs2070958 deviated from Hardy–Weinberg equilibrium in the total sample and in the NCKLR group, but not in controls, this finding should be interpreted cautiously. The A allele of rs1800814 was associated with reduced injury odds (OR = 0.60; 95% CI 0.42–0.85; p = 0.004). Significant associations were also identified for the PDGFA A-T-G haplotype and for an MDR model involving TGFB1 rs1800469, PDGFA rs1800814, and PDGFA rs2070958. These findings suggest that PDGFA genetic variability may be associated with NCKLR status, whereas no evidence of association was observed for the TGFB1 polymorphisms investigated.

Recent progress in laboratory medicine provides powerful tools for the detailed evaluation of cardiovascular risk in military populations. This study aimed to characterize cardiometabolic biomarker profiles across four Polish military groups through chemometric analysis. The study included 392 participants (336 men, 56 women, aged 19–56 years). In total, 23 serum biomarkers from lipid, metabolic, hepatic, hormonal, and bone axes, and lactate dehydrogenase (LDH) were analyzed. Random forest (RF) modeling and effect-size profiling identified group-specific signatures. Group 4 (exposed to extreme acceleration forces and ionizing radiation) exhibited a systemic stress and metabolic-load profile with higher N-terminal pro-B-type natriuretic peptide (NT-proBNP, 36.7 ± 48.2 pg/mL) and calcium (Ca, 10.4 ± 0.88 mg/dL), and lower parathyroid hormone (PTH, 15.4 ± 10.1 pg/mL) and C-terminal telopeptide of type I collagen (β-CTX, 0.22 ± 0.19 ng/mL). Group 2 (exposed to fuels and exhaust gases) and group 3 (exposed to vibration, noise, ionizing radiation) showed an atherogenic–hepatometabolic axis with elevated apolipoprotein B (apoB, 1.04 ± 0.31; 0.97 ± 0.29 g/L), non-high-density lipoprotein cholesterol (N-HDL, 151.0 ± 46.7; 147.0 ± 41.4 mg/dL), and alanine aminotransferase (ALT). Group 1 (exposed to a biological hazard) displayed higher glucose (Glu, 96.0 ± 25.6 mg/dL) and triglycerides (TG, 151.0 ± 113.0 mg/dL) with lower magnesium (Mg, 2.03 ± 0.27 mg/dL). RF modeling confirmed these constellations. This study was exploratory in nature, providing a foundation for future longitudinal research. These findings provide a rationale for tailored cardiovascular surveillance, although causal inference is limited by the cross-sectional design.

Background/Objectives: Lactate (LA) is a key metabolite in exercise metabolism, transported across cell membranes by monocarboxylate transporters (MCTs). Although genetic variation in MCT genes has been linked to LA kinetics, evidence in athletic populations remains limited. This study investigated nine MCT1 polymorphisms (rs4301628, rs12028967, rs10857983, rs3789592, rs10776763, rs1049434, rs6537765, rs7556664, rs7169) in relation to LA metabolism. Methods: 337 Polish and Czech males (elite athletes, sub-elite competitors, physically active controls) performed two maximal Wingate tests. Buccal swabs were collected for DNA extraction and single nucleotide polymorphism (SNP) genotyping. LA was assessed before and after the tests. Results: Five variants (rs3789592, rs7556664, rs7169, rs1049434, rs6537765) remained significantly associated with LA measured 30 min after the second Wingate (LA30′) and delta clearance capacity (DCC) in elites (codominant and recessive models: p = 0.01–0.03; false discovery rate (FDR)-adjusted p = 0.02–0.04). Rs10776763 showed the broadest associations, surviving FDR for LA30′ in all models (p = 0.003–0.03; FDR-adjusted p = 0.01–0.03) and for LA accumulation capacity (ACC) in the recessive model (p = 0.01; FDR-adjusted p = 0.03). Rs12028967 also supported a clearance role, with LA30′ significant in elites (p = 0.004; FDR-adjusted p = 0.01) and DCC in the overall cohort (p = 0.02; FDR-adjusted p = 0.03). In contrast, rs4301628 and rs10857983 demonstrated isolated LA30′ effects in elites (p = 0.004–0.01; FDR-adjusted p = 0.01), and no production-phase endpoint other than rs10776763 survived FDR; ACC remained significant in the recessive model (p = 0.01; FDR-adjusted p = 0.03). Conclusions: The results suggest that MCT1 polymorphisms contribute to differences in LA metabolism and warrant replication in larger, more diverse cohorts.

Introduction: Knee ligament ruptures are common injuries among athletes. While most previous studies examined single collagen gene polymorphisms, few have investigated haplotype-level associations across multiple genes, particularly in elite handball players. Materials and methods: This case-control study analyzed variants in eight collagen genes (COL1A1, COL1A2, COL3A1, COL5A1, COL11A1, COL15A1, COL22A1, and COL27A1) in 103 elite Polish handball players with non-contact knee ligament rupture and 226 matched controls. Results: The COL22A1 rs11784270 CC genotype was associated with an increased risk (OR = 2.88, p = 0.01), with the strongest effect in the dominant model (OR = 1.91, p = 0.01). COL1A2 rs42524 CC (OR = 3.52, p = 0.03) and rs2621215 GG (OR = 3.19, p = 0.048) were also risk-associated. The COL1A2 G–T haplotype was associated with a lower risk (p = 0.01 in additive and dominant models), while the C–G haplotype was associated with a higher risk (p = 0.03 additive, p = 0.02 recessive). The A–T haplotype of COL22A1 showed an as-sociation with a lower risk (p = 0.01 additive, p = 0.04 dominant, p = 0.03 recessive), whereas the C–T haplotype was associated with a higher risk (p = 0.01 additive, p = 0.02 dominant). Conclusions: COL1A2 and COL22A1 variants may provide insights relevant to future approaches to injury prevention.

Despite progress in understanding the role of monocarboxylate transporters (MCTs) in lactate (LA) accumulation and removal, it remains unclear whether MCT2 and MCT4 variants enhance LA utilization. This study assessed associations between MCT2 (rs3763980, rs995343, rs3763979) and MCT4 (rs11323780) polymorphisms and LA concentration. A total of 337 male athletes from the Czech Republic and Poland, divided into elite, sub-elite, and physically active individuals, completed two all-out Wingate tests. Before these tests, DNA was collected and analyzed for single-nucleotide polymorphisms (SNPs). LA concentrations were measured before and after the tests. MCT2 rs995343 showed the broadest associations. It was significantly associated with resting LA (LArest) in the overall cohort (codominant: false discovery rate (FDR)-adjusted p = 0.04; dominant: FDR-adjusted p = 0.03) and with peak LA concentration (LAmax), accumulation (ACC), and clearance (DCC) in the physically active group (all models: FDR-adjusted p = 0.02–0.04). MCT2 rs3763980 was associated with LArest in the overall group (codominant and recessive: FDR-adjusted p = 0.04). MCT2 rs3763979 was associated with LArest (FDR-adjusted p = 0.009–0.003) and LA30′ (FDR-adjusted p = 0.003–0.04) in the overall and physically active cohorts. MCT4 rs11323780 was associated with LArest in elite athletes (recessive: FDR-adjusted p = 0.03) and with ACC in the physically active group (codominant and recessive: FDR-adjusted p = 0.03). These findings indicate that MCT polymorphisms contribute to variability in LA metabolism, influencing anaerobic performance and recovery.

Obesity is a complex health risk influenced by genetic, environmental, and lifestyle factors. This review systematically assessed the association between interleukin gene polymorphisms (rs16944, rs17561, rs1143623, rs1143633, rs1143634, rs1800587, rs2234677, and rs4848306), IL-4 (rs180275, rs1805010, IL-6 rs13306435, rs1800795, rs1800796, rs1800797, rs2228145, rs2228145, rs2229238, and rs4845623), IL-10 (rs1518110, rs1518111, rs1800871, rs1800872, rs1800896, rs1878672, rs2834167, rs3024491, rs3024496, rs3024498, and rs3024505), IL-15 (rs3136617, rs3136618, and rs2296135), and IL-18 (rs187238, rs1946518, rs2272127, rs2293225, and rs7559479) and the risk of overweight and obesity in adults, focusing on IL-6 rs1800795 through a meta-analysis. The focus on IL-6 in this review arises from its pleiotropic nature and unclear effect on obesity risk. The review included studies published from 1998 to 2023, sourced from Science Direct, EBSCOhost, Web of Science, and Google Scholar. Bias was assessed with the Cochrane Collaboration tool, and funnel plots were used for publication bias. Results were synthesized into pooled odds ratios (ORs) and confidence intervals (CIs). Thirty studies comprising approximately 29,998 participants were included. The selection criteria required that the articles include participants who were overweight or obese, and this condition needed to be linked to IL polymorphisms. In a meta-analysis, in the dominant model, the pooled OR was 1.26 (95% CI 1.08 to 1.47), indicating those with the GC/CC genotype for IL-6 rs1800795 are 1.26 times more likely to be overweight/obese than GG genotype carriers. For the recessive model, the OR was 1.25 (95% CI 1.04 to 1.51). The overdominant model showed no significant association (OR 1.08, 95% CI 0.94 to 1.25). Interleukin gene variation, particularly the IL-6 rs1800795 variant, is modestly associated with obesity risk. This suggests that other factors, such as the environment, also play a role in obesity. Thus, individuals with this particular IL-6 variant may have a slightly higher likelihood of being overweight or obese compared to those without it, but this is just one of many factors influencing obesity risk.

Sport injuries, including the anterior crucial ligament rupture (ACLR) seem to be related to complex genetic backgrounds, including the genes responsible for inflammatory response. This review and meta-analysis investigated the contribution of the polymorphisms of genes encoding inflammatory cytokines and their receptors to the risk of ACLR. The scientific databases Science Direct, EBSCO host, Scopus, PubMed, and Google Scholar were screened (completed on 14 June 2023) according to the established inclusion/exclusion criteria (only fully accessible, original, human case–control studies written in English concerning the effect of interleukin genes’ polymorphisms on the occurrence of ACL injury were included) and statistical meta-analysis using R version 4.0.3 was performed. The PRISMA methodology was used to review articles. The review protocol was registered under the number CRD42024514316 in the Prospero database. Eighty-nine studies were identified and narrowed down to three original case–control studies used for the meta-analysis. The studies analyzed Polish, South African, and Swedish cohorts, altogether 1282 participants. The candidate polymorphisms indicated in the studies involved IL6 rs1800795, IL6R rs2228145 and IL1B rs16944. The systematic review showed the relationships between IL6 rs1800795 polymorphism and ACLR in the Polish subpopulation, and IL6R rs2228145 and IL1B rs16944 in the South African subpopulations. The meta-analysis revealed that the IL6 rs1800795 CG genotype was over-represented (OR = 1.30, 95% CI 1.02–1.66), while the CC genotype was under-represented (OR = 0.75, 95% CI 0.54–1.03) in ACLR subjects, but no significant impact of IL6R rs2228145 was shown. Additionally, a tendency of the IL1B rs16944 CT genotype to be protective (OR 0.89, 95% CI 0.70–1.14), while the TT to be a risk genotype (OR 1.19, 95% CI 0.84–1.68) was observed. Thus, the relationship between the interleukin receptor IL6R rs2228145 and ACLR risk was not confirmed. However, the impact of genes coding pleiotropic IL6 rs1800795 on the incidences of ACLR was clear and the effect of pro-inflammatory IL1B rs16944 was possible.

Neck pain and lower back pain are commonly reported by military pilots. That is why the answers to the following questions are important: (1) which part of the back (neck or lumbar spine) is more likely to be painful in military pilots as a result of high G-force, and (2) what intervention methods do pilots use as countermeasures for back pain resulting from high G-force? To answer these questions, the literature was searched in the following online databases: MEDLINE, PubMed, and Embase. A meta-analysis of eleven studies on pain in the neck–spine in fighter pilots vs. transport pilots showed pooled pulled OR = 1.69 (95% CI 1.25 to 2.29, I² = 32%, p-value = 0.21); this outcome is consistent with most of the published results. A meta-analysis of five studies on pain in the lumbar spine (lower back) did not show a difference between fighter pilots vs. transport pilots with OR = 1 (95% CI 0.83 to 1.19, I² = 0%, p-value = 0.96). The meta-analysis showed that of the two spinal segments evaluated, it was the cervical spine that showed more soreness in tactical fighter pilots. Prevention of lumbar and neck injuries should be combined with individual lumbar and neck support, as well as increasing back muscle strength through training.

Obesity is a complex multifactorial abnormality that has a well-confirmed genetic basis. However, the problem still lies in identifying the polymorphisms linked to body mass and composition. Therefore, this study aimed to analyze associations between FTO (rs9939609), FABP2 (rs1799883), and LEP (rs2167270), LEPR (rs1137101), and MC4R (rs17782313) polymorphisms and obesity-related parameters. Unrelated Caucasian males (n = 165) were recruited. All participants had similar physical activity levels. The participants were divided into two groups depending on their body mass index (BMI) and fat mass index (FMI). All samples were genotyped using real-time polymerase chain reaction (real-time PCR). When tested individually, only one statistically significant result was found. The FTO A/T polymorphism was significantly associated with FMI (p = 0.01). The chance of having increased FMI was >2-fold higher for the FTO A allele carriers (p < 0.01). Gene–gene interaction analyses showed the additional influence of all investigated genes on BMI and FMI. In summary, it was demonstrated that harboring the FTO A allele might be a risk factor for elevated fat mass. Additionally, this study confirmed that all five polymorphisms are involved in the development of common obesity in the studied population and the genetic risk of obesity is linked to the accumulation of numerous variants.

Background: To date, nearly 300 single-nucleotide polymorphisms (SNPs) associated with BMI, waist-to-hip ratio, and other adiposity traits have been identified by GWAS. With regards to IL10, at least 49 IL10-associated polymorphisms have been reported. However, little is known regarding the relationship between SNPs of the IL10 gene and the risk of obesity in young men. The aim of the present study was to investigate the relationship between SNPs of the IL10 and IL10RB genes and the risk of obesity in young men. Methods: A cohort of 139 male students were enrolled and the following IL10 and IL10RB SNPs were analyzed: IL10 (rs1518110), IL10 (rs3024491), IL10RB (rs2834167). The subjects were divided into groups depending on obesity parameters: body mass index (BMI), fat mass index (FMI) and fat percentage (Fat%). Statistical analysis was conducted for a single locus and haplotypes, an association between SNPs and body composition parameters was tested with four genetic models: dominant, recessive, codominant and overdominant mode of inheritance (MOI). Results: Significant association was found for interaction IL10 (rs1518110) × IL10RB (rs2834167) with Fat% value exceeding 20 in codominant (p-value = 0.03, OR = 0.34, 95% CI 0.08 1.44) and dominant model (p-value = 0.03, OR = 0.34, 95% CI 0.08 1.44) Conclusion: Our study shows for the first time that there is a correlation between the occurrence of specific polymorphisms of IL10 gene (rs1518110, rs3024491 and rs2834167) and the possibility of obesity.