Genetics & Applications

Investigation of the Effects Of ACE Gene Polymorphism on Athletic Performance in Active Adult Males

Özge Coşkun — 2024-10-14

Studying genes associated with exercise-related physiological systems and metabolic pathways has proven to be an effective method for identifying genetic markers associated with enhanced athletic performance. One of the extensively studied genes in genetics is "Angiotensin I-converting enzyme (ACE)" which has a significant role in regulating blood pressure, plasma volume, and the development of cardiac and skeletal muscle. The objective of this study was to determine the different results and genetic variations in the effects of ACE gene polymorphisms on the performance of the 30m sprint test and the arrowhead agility drill test in active adult males after a 6-week training program. Following the manufacturer's instructions, genomic DNA was extracted from participant mouth swab samples using the Buccalyse DNA Extraction Kit from Isohelix. The Statistical Package for the Social Sciences (SPSS) 25 application was used to perform statistical analysis on the research data. The findings indicate that 45.7% of the participants possess the I/D genotype, 31.4% possess the I/I genotype, and 22.9% possess the D/D genotype. There was no notable disparity in the performance of the arrowhead agility test and the 30 m sprint test among the different genotype groups (p<0.05). Our analysis revealed a lack of association between genetic variants and the values obtained from performance measurements in the test outcomes. Due to the involvement of various genes and variables, further research is needed to improve the predictability of approaches to ACE gene variations, considering their performance-enhancing benefits.

Exploring the variation association between four head traits

Tarik Corbo — 2024-10-14

This research work presents a comprehensive overview of four traits related to the head, with the aim of assessing the statistical phenotypic association among them. The traits examined in this study encompass earlobe type, tongue rugosity, cleft chin and tongue rolling. The primary objective was to investigate the potential associations between these traits and understand their interrelationships. The study focused on examining specific traits in a diverse group of 7431 unrelated individuals, where the genders were almost evenly distributed. To facilitate a comprehensive analysis, three distinct groups were created for each characteristic, comprising the total population, as well as male and female subsets. The selection of subjects was carefully done to ensure a fair representation across different geographical regions within Bosnia and Herzegovina, thereby accurately reflecting the nation's national and ethnic diversity. The association among these traits was assessed for statistical significance using the Chi-squared test, with Fisher's exact test used as a supplementary method to examine the connection between each pair of observed traits. Additionally, the Chi-squared test was applied to examine gender-based differences in the frequencies of the phenotypic characteristics of the head. Following traits were shown to have a statistically significant association: tongue rugosity - tongue rolling, tongue rugosity – earlobe type, cleft chin – earlobe type, cleft chin – tongue rolling and earlobe type – tongue rolling. Investigation into the variations in the frequencies of observed phenotypic traits of the head, with respect to gender, revealed statistically significant results for every trait examined.

The role of CYP2C19*2 variant and other factors in clopidogrel resistance in Montenegrin ACS patients

Svetlana Perović — 2024-11-22

Clopidogrel, an antiplatelet drug, has been widely prescribed for the treatment of acute coronary syndrome (ACS) for over two decades. Despite the fact that the drug proved to be effective in the majority of patients, in some, due to an inadequate response, the recurrence of adverse cardiovascular events represents a significant problem. These interindividual differences in response to clopidogrel may be due to genetic variations, concomitant therapy and associated diseases. The purpose of this study is to examine the association of the CYP2C19*2 loss of function variant, as well as other variables such as demographic characteristics, concomitant diseases and therapy with resistance, i.e. reduced drug efficacy in the Montenegrin cohort. The study included a total of 196 patients diagnosed with ACS who were on clopidogrel therapy. Patients were monitored for a one- year period, after the introduction of therapy, and divided into two groups: effective and ineffective clopidogrel therapy group. Genotyping for the CYP2C19*2 variant was performed using the real-time qPCR method. Our results show that atrial fibrillation (AF) is associated with impaired efficacy of clopidogrel in reducing the occurrence of adverse CV events during one year after the diagnosis of ACS (p = 0.040). There was no statistically significant difference between the effective and ineffective therapy group concerning CYP2C19*2 allele and genotype distribution (p = 0.438, p = 0.328) respectively. In conclusion, our findings indicate that AF could be potential non-genetic cause of ineffective clopidogrel therapy in ACS patients.