The COL5A1 Gene Allelic Combination and ACL Injury Risk in Team Sport: a preliminary report

Objective: The aim of this study was to examine the relationship between BstUI restriction fragment length polymorphisms (RFLP) C/T (rs 12722) and DpnII RFLP B1/B2 (rs 13946) COL5A1 polymorphisms and the anterior cruciate ligament (ACL) rupture in competitive team-sport athletes. Methods Sixty-eight team-sport players (n = 36 women and n = 32 men) with non-contact ACL rupture (ACLR) occurred during sport practices (ACLR Group) and 42 healthy players (n = 20 women and n = 22 men) (Control Group) participated in the study. Genomic DNA was extracted from buccal swab with salting out method. All samples were genotyped for the polymorphisms rs12722 and rs13946 by polymerase chain reaction (PCR) and restriction enzymes analysis. Results No significant difference has been found between ACRL and Control groups in age, height, weight body, mass index, sport practice (hours/week) and gender distribution among the different team sports. Control group had longer sport careers ( p < 0.005). The frequency distributions of COL5A1 DpnII nucleotide polymorphisms were in Hardy-Weinberg equilibrium (HWE) in both groups ( p of the Hardy-Weinberg (HW) -test > 0.005). Genotype frequencies of COL5A1 BstUI RFLP C/C was lower in the ACLR group compared to the Control group ( p of the HW-test = 0.001). Combined CC, B1B1 genotypes showed a protective effect against ACL rupture (OR = 83.3 / 16.7 = 5). Conclusions The COL5A1 gene may be one of the genetic factors associated with ACLR in team sport

Association of VDR Polymorphisms with Muscle Mass Development in Elite Young Soccer Players: A Pilot Study

The vitamin D receptor (VDR) is an important candidate gene in musculoskeletal phenotypes. Polymorphisms in the VDR have been previously associated with several pathologies and muscular strength in athletes and elderly people; however, the literature reported contradictory results. The object of this research was to verify the association between the most studied VDR variants (rs2228570, rs7975232, and rs1544410) and the increase in muscle mass in elite young soccer players. A sample of 55 soccer players (15–18 years old) from a professional team were selected for this study. DNA was extracted by the salting-out method, and polymorphisms were genotyped by PCR-RFLP, followed by 2% agarose gel electrophoresis. To test the effect of the three SNPs (single nucleotide polymorphisms), a logistic regression analysis was applied. The body composition determination was carried out through the skinfold thickness method, and the muscular area of the arm and lower limb were calculated using the Frisancho formula. All three polymorphisms met the Hardy–Weinberg equilibrium (p > 0.05) and their frequencies fell within the worldwide variability. A significant correlation between rs1544410 and the increase in calf muscle mass was observed. Individuals carrying the A allele showed higher calf muscular mass than those carrying the G allele (p = 0.034). Moreover, a haplotype analysis applied to the two SNPs in linkage disequilibrium (rs7975232 and rs1544410) showed that the AG haplotype appeared negatively correlated to the calf muscle area. In conclusion, we confirm an association between VDR polymorphisms and muscular mass that could encourage the genetic screening of the VDR gene to identify a potential risk of injury and for individual nutritional interventions

Association study of the Taq1D rs1800498 polymorphism of the DRD2 gene with personality traits in a group of athletes

Introduction: This study investigates an association between the human dopamine receptor 2 gene DRD2 Taq1D rs1800498 polymorphism and personality traits among athletes, exploring the genetic underpinnings of sports performance and psychological characteristics. It aims to understand how genetic factors related to dopamine reception influence athletic predispositions and behaviors. Materials and Methods: An association study was conducted with 391 male participants, comparing 159 sports subjects with 232 non-trained controls. Personality traits were assessed using the NEO Five-Factor Inventory, while the DRD2 Taq1D rs1800498 polymorphism was genotyped through real-time PCR. Results: Significant differences in the DRD2 Taq1D rs1800498 genotype and allele frequencies were found between athletes and controls, with athletes displaying higher scores in extraversion and conscientiousness on the NEO-FFI scales. These findings suggest a genetic influence on certain personality traits relevant to sports performance. Conclusions: The study supports the notion that genetic factors, specifically the DRD2 Taq1D rs1800498 polymorphism, are associated with personality traits that may influence athletic performance. This insight contributes to the field of psychogenetics in sports, offering a deeper understanding of how genetics and personality interact to shape athletic capabilities

Association analysis of the dopaminergic receptor 2 gene Tag1B rs1079597 and personality traits among a cohort of professional athletes

Research into sports participation has increasingly pointed to inherent biological mechanisms as influential factors alongside psychosocial and environmental elements. The dopaminergic D2 receptor is a strong candidate gene for physical activity behaviour, given its role in locomotor control and reward mechanisms. Hence, this study aimed to analyse the association of the DRD2 gene Tag1B rs1079597 polymorphism with personality traits in elite athletes. The study group consisted of 395 volunteers. Of these, 163 were professional athletes (22.56±5.9; M = 114, F = 49), and 232 were controls (22.07±4.3; M = 150, F = 82). The MINI-International Neuropsychiatric Interview and the NEO Five-Factor Inventory were administered in both groups. Genotyping was performed using the real-time PCR method. Statistical analysis was performed: genotypes and alleles frequencies were compared using the chi-square test and the relations between DRD2 Tag1B rs1079597 variants, professional athletes and control participants and the NEO Five-Factor Inventory were analysed with the factorial ANOVA. Statistically significant differences were found in the frequency of DRD2 Tag1B rs1079597 genotypes and alleles in the group of professional athletes group compared to the control group. The GG genotype and G allele were significantly more frequent in the group of professional athletes (G/G 0.79 vs G/G 0.66; A/A 0.04 vs A/A 0.03; A/G 0.17 vs A/G 0.31, p = 0.0056; G 0.87 vs. G 0.81; A 0.13 vs. A 0.19, p = 0.0281) compared to the control group. The professional athletes’ participants, compared to the controls, obtained significantly higher scores in the assessment of NEO-FFI Extraversion (p = 0.0369) and Conscientiousness (p < 0.0001) scales. Additionally, there was a statistically significant effect of DRD2 rs1079597 genotype association with being a professional athlete on the Openness scale (F2.3389 = 3.07; p = 0.0475; η2 = 0.015) and on the Conscientiousness scale (F2.3389 = 3.23; p = 0.0406; η2 = 0.016). This study highlights the significant associations between the DRD2 Taq1B polymorphicsite and personality traitsin a group of professional athletes. It also demonstratesthe association of Taq1B polymorphism and professional sportsmanship with personality traits measured by NEO-FFI. The results suggest that genetic factors and professional sportsmanship both shape an athlete’s personality traits

The Diagnostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy

background: electrocardiographic (ECG) findings in arrhythmogenic left ventricular cardiomyopathy (ALVC) are limited to small case series. objectives: this study aimed to analyze the ECG characteristics of ALVC patients and to correlate ECG with cardiac magnetic resonance and genotype data. methods: we reviewed data of 54 consecutive ALVC patients (32 men, age 39 +/- 15 years) and compared them with 84 healthy controls with normal cardiac magnetic resonance. results: T-wave inversion was often noted (57.4%), particularly in the inferior and lateral leads. Low QRS voltages in limb leads were observed in 22.2% of patients. the following novel ECG findings were identified: left posterior fascicular block (LPFB) (20.4%), pathological Q waves (33.3%), and a prominent R-wave in V-1 with a R/S ratio >= 0.5 (24.1%). the QRS voltages were lower in ALVC compared with controls, particularly in lead I and II. at receiver-operating characteristic analysis, the sum of the R-wave in I to II <= 8 mm (AUC: 0.909; P < 0.0001) and S-wave in V-1 plus R-wave in V-6 <= 12 mm (AUC: 0.784; P < 0.0001) effectively discriminated ALVC patients from controls. It is noteworthy that 4 of the 8 patients with an apparently normal ECG were recognized by these new signs. transmural late gadolinium enhancement was associated to LPFB, a R/S ratio >= 0.5 in V-1, and inferolateral T-wave inversion, and a ringlike pattern correlated to fragmented QRS, SV1+RV6 <= 12 mm, low QRS voltage, and desmoplakin alterations. conclusions: pathological Q waves, LPFB, and a prominent R-wave in V-1 were common ECG signs in ALVC. An R-wave sum in I to II <= 8 mm and SV1+RV6 <= 12 mm were specific findings for ALVC phenotypes compared with controls

Safety and efficacy of COVID-19 vaccines in patients on dialysis: a multicentre cohort study in Italy

Background The aim of this study was to evaluate the efficacy and safety of COVID-19 vaccines in patients undergoing haemodialysis in Italy compared to the general population.Methods In this cohort study, 118 dialysis centres from 18 Italian Regions participated. Individuals older than 16 years on dialysis treatment for at least 3 months, who provided informed consent were included. We collected demographic and clinical information, as well as data on vaccination status, hospitalisations, access to intensive care units and adverse events. We calculated the incidence, hospitalisation, mortality, and fatality rates in the vaccinated dialysis cohort, adjusted for several covariates. The incidence rates of infection in the dialysis cohort and the general population were compared through Standardised Incidence Rate Ratio.Results The study included 6555 patients vaccinated against SARS-CoV-2 infection according to the schedule recommended in Italy. Between March 2021 and May 2022, there were 1096 cases of SARS-CoV-2 infection, with an incidence rate after completion of the three-dose vaccination cycle of 37.7 cases per 100 person-years. Compared to the general population, we observed a 14% reduction in the risk of infection for patients who received three vaccine doses (Standardised Incidence Rate Ratio: 0.86; 95% Confidence Interval: 0.81-0.91), whereas no statistically significant differences were found for COVID-19-related hospitalisations, intensive care unit admissions or death. No safety signals emerged from the reported adverse events.Conclusions The vaccination program against SARS-CoV-2 in the haemodialysis population showed an effectiveness and safety profile comparable to that seen in the general population