Prevalence of the Angiotensin I Converting Enzyme Gene Insertion/Deletion Polymorphism in a Healthy Turkish Population

WOS: 000266074200007PubMed ID: 19390959Angiotensin converting enzyme (ACE) plays an essential role in the renin-angiotensin system. It converts angiotensin I to angiotensin II and inactivates bradykinin and tachykinins. Numerous studies have been published investigating associations of the ACE gene I/D polymorphism with various pathophysiological conditions. We examined the prevalence of the ACE I/D polymorphism in a sample of healthy volunteers from western Turkey, including 1063 healthy Turkish controls. Analysis of the ACE I/D gene polymorphisms by polymerase chain reaction found frequencies of 16.1% for the II genotype, 47.7% for the ID genotype, and 36.2% for the DD genotype. The allele frequency was 39.9% for the I alleles and 60.1% for the D allele. This study demonstrates that the allele and genotype frequency values for the Turkish population are similar to previously published frequencies for Caucasian populations

Evaluation of the CRISPR/Cas9 directed mutant TP53 gene repairing effect in human prostate cancer cell line PC-3

Prostate cancer is a common health problem among men worldwide and most of these prostate cancer cases are related to a dysfunctional mutant Tumor Protein p53 (TP53) gene. However, the CRISPR/Cas9 system can be used for repairing of a dysfunctional mutant TP53 gene in combination with donor single-stranded oligodeoxynucleotide (ssODN) via cells' own homology-directed repair (HDR) mechanism. In this study, we aimed to evaluate the CRISPR/Cas9 repairing efficiency on TP53 414delC (p.K139fs*31) null mutation, located in the TP53 gene, of human prostate cancer cell line PC-3 in combination with ssODNs. According to the next-generation sequencing results, TP53 414delC mutation was repaired with an efficiency of 19.95% and 26.0% at the TP53 414delC position with ssODN1 and ssODN2 accompanied by sgRNA2 guided CRISPR/Cas9, respectively. Besides, qPCR and immunofluorescence analysis showed that PC-3 cells, the TP53 414delC mutation of which were repaired, expressed wild type p53 again. Also, significantly increased number of apoptotic cells, driven by the repaired TP53 gene were detected compared to the control cells by flow cytometry analysis. As a result, sgRNA2 guided CRISPR/Cas9 system accompanied by ssODN was shown to effectively repair the TP53 414delC gene region and inhibit the cell proliferation of PC-3 cells. Therefore, the effects of the TP53 414delC mutation repairment in PC-3 cells will be investigated in the in vivo models for tumor clearance analysis in the near future

Association of Angiotensin-Converting Enzyme I/D and eNOS G894T Gene Polymorphisms with Erectile Dysfunction

WOS: 000291330700023Objective: Recent studies suggest that angiotensin II and nitric oxide (NO) may modulate penile smooth muscle tone and contractility. Because genotypes of the angiotensin converting enzyme (ACE) and endothelial nitric oxide synthase (eNOS) polymorphisms have been associated with disorders in the vascular system, in this study, we investigated an association between the ACE I/D and eNOS G894T gene polymorphisms and erectile dysfunction (ED). Material and Methods: A total of 44 patients and 45 control subjects were included in the study. Diagnosis of erectile dysfunction (< 26) was provided by International Index of Erectile Function (IIEF). The ACE I/D ye eNOS G894T gene polymorphisms were genotyped using PCR and RFLP. Results: No significant case-control difference was observed for the ACE I/D and eNOS G894T gene polymorphisms either by genotype or allele frequencies [(ACE I/D-X-2=0.930 p=0.628) and eNOS 894 G/T-X-2=2.114 p=0.348)]. In addition, there was no significant difference between ACE I/D (X-2=3.174 p=0.787) and eNOS G894T (X-2=4.320 p=0.633) and IIEF scores among the patient group. Conclusion: In this study, no association was found between ACE LID and eNOS G894T gene polymorphisms and erectile dysfunction in the Turkish population studied

Relationship between ace genotype and short duration aerobic performance development

WOS: 000242658400003PubMed ID: 16969640We have previously demonstrated that, ACE D allele may be related with a better performance in short duration aerobic endurance in a homogeneous cohort with similar training backgrounds. We aimed to study the variation in the short-duration aerobic performance development amongst ACE genotypes in response to identical training programs in homogeneous populations. The study group consisted of 186 male Caucasian non-elite Turkish army recruits. All subjects had undergone an identical training program with double training session per day and 6 days a week for 6 months. Performances for middle distance runs (2,400 m) were evaluated on an athletics track before and after the training period. ACE gene polymorphisms were studied by PCR analysis. The distribution of genotypes in the whole group was 16.7% II, n = 31; 46.2% ID, n = 86; 37.1% DD, n = 69. Subjects with ACE DD genotype had significantly higher enhancement than the ID (P ACE ID > ACE II (P value for Pearson chi(2) = 0.461 and P value for linear by linear association = 0.001). ACE DD genotype seems to have an advantage in development in short-duration aerobic performance. This data in unison with the data that we have obtained from homogenous cohorts previously is considered as an existence of threshold for initiation of ACE I allele effectiveness in endurance performance. This threshold may be anywhere between 10 and 30 min with lasting maximal exercises

Personality Traits and DRD4, DAT1, 5-HT2A Gene Polymorphisms in Risky and Non Risky Sports Participation

WOS: 000284798000005Objective: Relationships amongst Big Five personality traits and DRD4, DAT1 and 5-HT2A gene polymorphisms were investigated in 193 college students participating in risky and non-risky sports. Material and Methods: Personality traits were assessed by Five Factor Personality Inventory (FFPI) and gene polymorphisms were analyzed by polymerase chain reaction. Results: In order to examine whether signifant Big Five personality trait differences existed between DAT1 gene polimorphisms, independent sample t-test was used. Results showed that only Agreeableness dimension revealed significant difference indicating that individuals with non-10/10 genotype had higher agreeableness scores when compared to individuals with 10/10 genotype. ANOVA results showed that Big Five personality dimensions scores differed significantly amongst 5-HT2A genotypes. Individuals with CC genotype had lower emotional stability scores when compared to individuals with TC genotype, and CC genotype individuals had greater openness to experience scores when compared to TT genotype individuals. Openness to experience scores were also significantly different among DRD4 genotypes. Individuals with 11 genotype had greater openness to experience scores when compared to individuals with as genotype. No 5-HT2A and risky sport participation (RSP) interaction effect was found on emotional change score. Conclusion: DAT1 was not associated with RSP. It was concluded that DRD4 and 5-HT2A were not directly associated with RSP but may be used as indirect predictors of it.Ege University, Scientific Research Project UnitEge UniversityThis study was supported by Ege University, Scientific Research Project Unit