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Background The SARS CoV-2 pandemic remains a worldwide challenge. The CRIT Cov U pilot study generated a urinary proteomic biomarker consisting of 50 peptides (COV50), which predicted death and disease progression. Following the interim analysis demanded by the German government, the full dataset was analysed to consolidate findings and propose clinical applications. Methods In eight European countries, 1012 adults with PCR-confirmed COVID-19 were followed up for death and progression along the 8 point WHO scale. Capillary electrophoresis coupled with mass spectrometry was used for urinary proteomic profiling. Statistical methods included logistic regression, receiver operating curve analysis with comparison of the area under curve (AUC) between nested models. Hospitalisation costs were derived from the care facility corresponding with the Markov chain probability of reaching WHO scores ranging from 3 to 8 and flat-rate hospitalistion costs standardised across countries. Findings The entry WHO scores were 1-3, 4-5 and 6 in 445 (44,0%), 529 (52,3%), and 38 (3,8%) patients, of whom 119 died and 271 progressed. The standardised odds ratios associated with COV50 for death were 2,44 (95% CI, 2,05-2,92) unadjusted and 1,67 (1,34-2,07) if adjusted for sex, age, body mass index, comorbidities and baseline WHO score, and 1,79 (1,60-2,01) and 1,63 (1,40-1,90), respectively, for disease progression (p<0,0001 for all). The predictive accuracy of optimised COV50 thresholds were 74,4% (95% CI, 71,6-77,1) for mortality (threshold 0,47) and 67,4% (64,1-70,3) for disease progression (threshold 0,04). On top of covariables and the baseline WHO score, these thresholds improved AUCs from 0,835 to 0,853 (p=0,0331) and from 0,697 to 0,730 (p=0,0008) for death and progression, respectively. Of 196 ambulatory patients, 194 (99,0%) did not reach the 0,04 threshold. Earlier intervention guided by high-risk COV50 levels should reduce hospital days with cost reductions expressed per 1000 patient-days ranging from MEuro 1,208 (95% percentile interval, 1,035-1,406) at low risk (COV50 <0,04) to MEuro 4,503 (4,107-4,864) at high risk (COV50 above 0,04 and age above 65 years). Interpretation The urinary proteomic COV50 marker is accurate in predicting adverse COVID-19 outcomes. Even in mild-to-moderate PCR-confirmed infections (WHO scores 1-5), the 0,04 threshold justifies earlier drug treatment, thereby reducing hospitalisation days and costs.

DNA methylation (leading to gene silencing) is one of the best-studied epigenetic mechanisms. It is also essential in regulating the dynamics of dopamine release in the synaptic cleft. This regulation relates to the expression of the dopamine transporter gene (DAT1). We examined 137 people addicted to nicotine, 274 addicted subjects, 105 sports subjects and 290 people from the control group. After applying the Bonferroni correction, our results show that as many as 24 out of 33 examined CpG islands had statistically significantly higher methylation in the nicotine-dependent subjects and athletes groups compared to the control group. Analysis of total DAT1 methylation revealed a statistically significant increase in the number of total methylated CpG islands in addicted subjects (40.94%), nicotine-dependent subjects (62.84%) and sports subjects (65.71%) compared to controls (42.36%). The analysis of the methylation status of individual CpG sites revealed a new direction of research on the biological aspects of regulating dopamine release in people addicted to nicotine, people practicing sports and people addicted to psychoactive substances.

There is a wide range of individual variability in the change of body weight in response to exercise, and this variability partly depends on genetic factors. The study aimed to determine DNA polymorphisms associated with fat loss efficiency in untrained women with normal weight in response to a 12-week aerobic training program using the GWAS approach, followed by a cross-sectional study in athletes. The study involved 126 untrained young Polish women (age 21.4 ± 1.7 years; body mass index (BMI): 21.7 (2.4) kg/m2) and 550 Russian athletes (229 women, age 23.0 ± 4.1; 321 men, age 23.9 ± 4.7). We identified one genome-wide significant polymorphism (rs116143768) located in the ACSL1 gene (acyl-CoA synthetase long-chain family member 1, implicated in fatty acid oxidation), with a rare T allele associated with higher fat loss efficiency in Polish women (fat mass decrease: CC genotype (n = 122) −3.8%; CT genotype (n = 4) −31.4%; p = 1.18 × 10−9). Furthermore, male athletes with the T allele (n = 7) had significantly lower BMI (22.1 (3.1) vs. 25.3 (4.2) kg/m2, p = 0.046) than subjects with the CC genotype (n = 314). In conclusion, we have shown that the rs116143768 T allele of the ACSL1 gene is associated with higher fat loss efficiency in response to aerobic training in untrained women and lower BMI in physically active men.

Background: To date, nearly 300 genetic markers were linked to endurance and power/strength traits. The current study aimed to compare genotype distributions and allele frequencies of the common polymorphisms: MCT1 rs1049434, NRF2 rs12594956, MYBPC3 rs1052373 and HFE rs1799945 in Polish elite athletes versus nonathletes. Methods: The study involved 101 male elite Polish athletes and 41 healthy individuals from the Polish population as a control group. SNP data were extracted from whole-genome sequencing (WGS) performed using the following parameters: paired reads of 150 bps, at least 90 Gb of data per sample with 300 M reads and 30× mean coverage. Results: All the analyzed polymorphisms conformed to Hardy–Weinberg equilibrium (HWE) in athletes and the control group, except the MCT1 rs1049434, where allele T was over-represented in the elite trainers’ group. No significant between-group differences were found for analyzed polymorphisms. Conclusions: The MCT1 rs1049434 transmission distortion might be characteristic of Polish athletes and the effect of strict inclusion criteria. This result and the lack of statistically significant changes in the frequency of other polymorphisms between the groups might result from the small group size.

Understanding the risk factors and etiology of ACL ruptures (anterior cruciate ligament) is crucial due to the injury’s high occurrence, significant financial cost to the healthcare sector, and clinical consequences. In this study, we investigated the hypothesis that rs11784270 A/C and rs6577958 C/T SNPs (single gene polymorphism) within COL22A1 are associated with ACL ruptures (ACLR) in Polish soccer players. Methods: 228 athletes with ACLR (157 male, age 26 ± 4, 71 female, age 26 ± 6) and 202 control athletes (117 male, age 26 ± 6, 85 female, age 29 ± 2) engaged in the study. The buccal cell swabs were genotyped using TaqMan® pre-designed SNP genotyping assays, following the manufacturer’s recommendations. The R program and SNPassoc package were used to determine the genotype and allele frequency distributions under the various inheritance models (co-dominant, dominant, recessive, and over-dominant). Further, p-values of <0.05 were considered statistically significant. We found no association between the analyzed polymorphisms and the risk of non-contact ACL ruptures in any of the studied models. Although the genetic variants investigated in this study were not associated with the risk of non-contact ACL ruptures, we assumed that the COL22A1 gene remains a candidate for further investigations in musculoskeletal injuries.

The quantitative polymerase chain reaction (qRT-PCR) technique gives promising opportunities to detect and quantify RNA targets and is commonly used in many research fields. This study aimed to identify suitable reference genes for physical exercise and omega-3 fatty acids supplementation intervention. Forty healthy, physically active men were exposed to a 12-week eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) supplementation and standardized endurance training protocol. Blood samples were collected before and after the intervention and mRNA levels of six potential reference genes were tested in the leukocytes of 18 eligible participants using the qRT-PCR method: GAPDH (Glyceraldehyde-3-phosphate dehydrogenase), ACTB (Beta actin), TUBB (Tubulin Beta Class I), RPS18 (Ribosomal Protein S18), UBE2D2 (Ubiquitin-conjugating enzyme E2 D2), and HPRT1 (Hypoxanthine Phosphoribosyltransferase 1). The raw quantification cycle (Cq) values were then analyzed using RefFinder, an online tool that incorporates four different algorithms: NormFinder, geNorm, BestKeeper, and the comparative delta-Ct method. Delta-Ct, NormFinder, BestKeeper, and RefFinder comprehensive ranking have found GAPDH to be the most stably expressed gene. geNorm has identified TUBB and HPRT as the most stable genes. All algorithms have found ACTB to be the least stably expressed gene. A combination of the three most stably expressed genes, namely GAPDH, TUBB, and HPRT, is suggested for obtaining the most reliable results.

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.