scholarly journals Genetic Variation of I/D Enzyme Converting Angiotensin (ACE) with Athlete Muscle Resistance

2019 ◽  
Vol 3 (3) ◽  
pp. 143-148
Author(s):  
Indriono Hadi ◽  
Lilin Rosyanti

Programmed physical exercise in athletes causes the cardiovascular system to be more efficient in pumping blood and carrying oxygen to muscles. Indicators of cardiovascular changes during exercise are: oxygen consumption, heart rate, stroke volume, differences in arterial and venous oxygen, blood pressure and blood flow. Some physical components that need to be considered for development include: VO2 max, muscle endurance, strength, flexibility, speed, stamina, agility, and explosive power. Some specific genes are identified as a muscle phenotype response to strength training, namely angiotensin-converting enzyme (ACE), which converts angiotensin I to angiotensin II. The insertion / deletion (I/D) polymorphism in this gene was found to play a role in variations in the activity of the ACE enzyme, in someone carrying a deletion allele (D) who had higher ACE enzyme activity. The research was carried out at the Organization of the Indonesian National Sports Committee (KONI), especially in South Sulawesi Bangkit athletes. The results showed a significant relationship between genetic variation in ACE gene (I/D) with muscle endurance (p-value 0.05). Likewise in sprints and endurance sports, there was no relationship with variations in the ACE gene (p-value >0.05). In conclusion, further research should be on athletes who win the Olympics or World Championships, with a single sports discipline, larger sample sizes and more diverse genetic variations, so that the ACE genotype can be explored and developed in athletes. Keywords: Athlete, Physical exercise, ACE gene, Genetic variation of I / D, Muscle endurance

Author(s):  
Benjamin E. Sibson ◽  
Victoria A. Tobolsky ◽  
Timothy M. Kistner ◽  
Nicholas B. Holowka ◽  
Josphine Jemutai ◽  
...  

Circulation ◽  
2012 ◽  
Vol 125 (suppl_10) ◽  
Author(s):  
Catherine O Johnson ◽  
Rozenn N Lemaitre ◽  
Nona Sotoodehnia ◽  
Barbara McKnight ◽  
Kenneth M Rice ◽  
...  

Background: Reperfusion following ischemia due to sudden cardiac arrest (SCA) is necessary for survival, but results in additional injury to affected tissues. Regulation of apoptosis has been shown to be important in determining the extent of reperfusion injury. Caspases (CASP) are essential enzymes in the apoptotic cascade and we therefore hypothesized that genetic variation in these enzymes might influence cardiac and brain resuscitation after SCA. To test this, we examined three genes (CASP2, CASP3, CASP9) in a population-based study of SCA survival. Methods: Subjects (mean age 67, 80% male, of European descent) were out-of-hospital SCA patients found in ventricular fibrillation (VF) and attended by paramedics in King County, WA (n=1614). To investigate cardiac resuscitation, we compared subjects who survived to hospital admission (n=827) with those who did not (n=787); for brain resuscitation, we compared subjects who survived to hospital discharge (n=448) with those who did not (n=1166). Associations of 19 SNPs were examined using logistic regression comparing each additional copy of the minor allele. Based on a priori hypotheses, models were adjusted for: age; gender; time from 911 call to arrival of emergency medical services; whether the event was witnessed; occurred in public; and whether bystander CPR was administered. We used within-gene permutation tests to adjust p-values for multiple comparisons. Results: Two SNPs in CASP3 were associated with SCA survival. The A allele of rs4647688 (minor allele frequency (MAF) 0.20) was associated with lower rates of survival to hospital admission (OR (95% CI), adjusted p-value: 0.78 (0.65, 0.93), p =0.043). The T allele of rs2705897 (MAF 0.26) was associated with a higher rate of survival to hospital admission (1.27 (1.07, 1.51), p =0.049). These two SNPs are in almost complete linkage equilibrium (r 2 =0.091). No SNPs in CASP3 were significantly associated with survival to hospital discharge, and no SNPs in CASP2 or CASP9 were significantly associated with either outcome. Conclusions: CASP3 variants are associated with SCA survival in this population. Further work is needed to explore the effect of these variants on regulation of apoptosis during reperfusion following VF arrest, and to replicate these findings in other populations.


2018 ◽  
Vol 6 (4) ◽  
pp. 98 ◽  
Author(s):  
Fatemeh Karami ◽  
Maliheh Askari ◽  
Mohammad Modarressi

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.


Author(s):  
Asma Abdelaal Abdalla ◽  
Siham Ahmed Balla ◽  
Amna Abdalla Babiker ◽  
Safaa Abdelhameed Medani ◽  
Rania Abdalla Osman Khalfa ◽  
...  

Aims: To measure the waist circumference of Sudanese adults in Khartoum Locality and its relationship to blood pressure and lifestyle  during celebration of international day of hypertension in May 2016 . Study Design: It was a descriptive cross-sectional study. Place of the Celebration: Khartoum Locality at Alsahaa Alkhadraa (The Green Park). Methodology: A total of 364 adult participants, 196 men and 168 women were interviewed using structured questionnaire. Blood pressure (BP) was measured considering hypertension as ≥ 140 mmHg and ≥ 90 mmHg for systole and diastole BP respectively. Waist circumference was measured using an anthropometric measuring tape at cut-off point of 94 cm and 80 cm for men and women respectively. Data was managed by SPSS version 20 and Chi-square test at 95% CL was used to test the association between waist circumference, blood pressure and life style characteristics. Results: Age distribution of the study population showed 48.2% females and 45.4% males in the middle age group (38-57 years). Two thirds of the study population were hypertensive, 62.8% of males and 64.3% of females. The mean waist circumference of men was 97.82 cm + 16.7, mean Systolic BP was 127 + 22 and mean Diastolic BP was 85 + 15. The mean waist circumference of women was 99.31 + 16.2, mean Systolic was 128 + 24 and mean Diastolic BP was 84 +17. Abnormal waist circumference was found in 61.2% of males and 86.9% of females. Fifty nine (30.1%) of the males and 86 (51.2%) of the females with abnormal waist circumference were hypertensive. The association between abnormal waist circumference and high blood pressure was significant among both sexes, P value = 0.001. Physical exercise and fat and salt foods were not significantly associated waist circumference in both men and women. Conclusion: Two thirds of women and men in the celebrating areas were hypertensive.  Half of women and one third of men were significantly hypertensive and having abnormal waist circumference. Doing physical exercise, avoiding fat and salt foods was insignificantly associated with normal waist circumference. Large survey with representative sample is needed to estimate the real Sudanese waist circumference.  


2019 ◽  
Vol 6 (2) ◽  
pp. 253
Author(s):  
Dharmendra Jhavar ◽  
Naresh K. Patel ◽  
V. P. Pandey

Background: The presence of raised serum TSH with serum free T4 and T3 within the reference range falls in subclinical hypothyroidism. It is a well-known fact that exercise affects the activity of thyroid glands and the production of their hormones. Author studied the effect of regular exercise in patients of newly diagnosed subclinical hypothyroidism. Pre and post-exercise thyroid function tests were evaluated to decide about the necessity to start thyroid replacement therapy or to adopt wait and watch policy.Methods: Study enrolled 100 newly diagnosed subclinical hypothyroidism patients attending this tertiary care hospital and randomised them in two groups, one group was subjected to regular physical exercise of 45-60 minutes daily along with supervised treadmill exercise stage 0 for 45-60 minutes once weekly followed by re-evaluation of thyroid function test after 30 days and second group was re-evaluated for thyroid function test without exercise after 30 days.Results: Thyroid profile parameters were compared and analysed by paired ‘t’ test, statistically significant increase in serum T3 (p value <0.05) and serum T4 (p value <0.05), along with significant reduction in TSH level (p value <0.05) were found in exercise group, while in non-exercise group changes in thyroid profile parameters were statistically not significant. There was significant reduction in mean weight in exercise group (p value <0.05), while in non-exercise group changes in weight were not significant.Conclusions: Present study concluded that regular physical exercise can improve thyroid function in patients of newly diagnosed subclinical hypothyroidism and convert them to euthyroid state.


2015 ◽  
Vol 45 (8) ◽  
pp. 1207-1227 ◽  
Author(s):  
Félix-Antoine Savoie ◽  
Robert W. Kenefick ◽  
Brett R. Ely ◽  
Samuel N. Cheuvront ◽  
Eric D. B. Goulet

2016 ◽  
Vol 17 (4) ◽  
Author(s):  
Paweł Cięszczyk ◽  
Agata Leońska-Duniec ◽  
Agnieszka Maciejewska-Skrendo ◽  
Marek Sawczuk ◽  
Katarzyna Leźnicka ◽  
...  

AbstractPurpose. A common polymorphism in the angiotensin converting enzyme I gene (the ACE I/D variant) represents one of the first characterized and the most widely studied genetic variants in the context of elite athletes status and performance related traits. The aim of the study was to determine the genotype and allele distribution of the allele and genotype of the ACE gene in Polish male football players. Methods. The total of 106 Polish male professional football players were recruited. They were divided into groups according to the position in the field: forwards, defenders, midfielders, and goalkeepers. For controls, samples were prepared with 115 unrelated volunteers. DNA was extracted from the buccal cells donated by the subjects, and the PCR amplification of the polymorphic region of the ACE gene containing either the insertion (I) or deletion (D) fragment was performed. Results. The genotype distribution and allele frequencies among all football players did not differ significantly when compared with sedentary control individuals (p = 0.887, p = 0.999, respectively). Likewise, the analysis of forwards, defenders, midfielders, and goalkeepers revealed no significant differences in either ACE genotype or allele frequencies. Conclusions. We did not provide evidence for difference of variation of the ACE I/D polymorphism between Polish football players and controls, as we did not obtain any statistically significantly higher frequency of either of the analysed alleles (I and D) or genotypes (DD, ID, and II) in the studied subgroups. It may be suspected that harbouring of I/D allelic variants of the ACE gene neither decreases nor increases the probability of being a professional football player in Poland.


2020 ◽  
pp. 112067212097263
Author(s):  
Boris Beloshevski ◽  
Sagi Shashar ◽  
Michael Mimouni ◽  
Victor Novack ◽  
Boris E Malyugin ◽  
...  

Objective: The study aimed to compare eye outcomes between the standard and accelerated corneal cross-linking (CXL) protocols over a 1-year follow-up, and assess whether the accelerated protocols are non-inferior to the standard. Methods: A retrospective cohort study including patients older than 18 years diagnosed with progressive keratoconus who underwent a CXL procedure. The primary outcome was defined as an increase of more than 1.5 diopter (D) in Kmax. The analysis included intra- and inter-group comparisons assessing differences in eye characteristics before and 12 months after the procedure. Furthermore, we assessed whether the accelerated procedures were non-inferior to the standard regarding Kmax change after 12 months. Results: Eighty-four patients included in the study of which 23, 37 and 23 underwent the standard CXL (group I), 10-min. (group II) and the 3-min. (group III) accelerated procedures, respectively. Intra-group comparison before and after 12 months of mean Ksteep and anterior corneal astigmatism showed significant improvement only for group I (–0.3D decrease for both). Inter-group comparison showed better results after 12 months for group I (–0.9 ± 1.2) compared to group III (0.1 ± 0.8) in Ksteep, Kmean (–0.5+1. vs 0.1+0.7, respectively) and anterior astigmatism (–0.5 + 0.9 vs 0.3+1.1, respectively). We could not declare that the accelerated CXLs are non-inferior to the standard ( p-value = 0.11 and 0.15). Conclusion: The standard CXL showed better results for keratometry and astigmatism in comparison with the accelerated. Therefore, the wide use of the accelerated CXL should be considered and reviewed for longer follow-up time and larger sample size in focus on the visual acuity parameters.


Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 789-789
Author(s):  
Laine Elliott ◽  
Allison E. Ashley-Koch ◽  
Jude Jonassaint ◽  
Jennifer Price ◽  
Jason Galloway ◽  
...  

Abstract Priapism, a painful and prolonged erection, has been reported to occur in 30–45% of male patients with sickle cell disease (SCD). However, little is known about the pathological processes and genetic risk factors that contribute to the occurrence of priapism. The identification of genetic variables that are associated with priapism may therefore help define both critical pathophysiologic mechanisms not otherwise apparent, as well as patients at increased risk. We examined genetic variation in our sample of 199 unrelated, adult (&gt;18 years), male patients with Hb SS and Hb Sβ0-thalassemia, 83 (42%) of whom reported a history of priapism. Candidate genes for association with priapism were identified based on their involvement in adhesion, coagulation, inflammation, and cell signaling. Additionally, we examined genes involved in NO biology (NOS2, NOS3, SOD1, SLC4A1). Finally, we also examined polymorphisms in the KLOTHO gene, which has previously been associated with priapism. We examined a total of 389 SNPs in 48 candidate genes. Except for the gene encoding the β2 adrenergic receptor, SNP genotyping was performed by TaqMan, using Assays-on-Demand or Assays-by-Design genotyping products (Applied Biosystems). Allele tests were used to detect genetic associations with priapism. Strong evidence of association was found for SNP rs7526590 in the transforming growth factor-β receptor, type III (TGFBR3) gene (p=.00058), SNP rs10244884 in the aquaporin (AQP1) gene (p=.00068), and SNP rs3768780 in the integrin αV (ITGAV) gene (p=0.00090). A second ITGAV SNP (rs3768778), in linkage disequilibrium (r2=.59) with the first, also showed association with priapism (p=.00888). The A1 subunit of coagulation factor XIII (F13A1) had four SNPs (hcv1860621, rs1032045, rs1674074, rs381061) with p-values less than 0.010 (p-values = 0.00156, 0.00415, 0.00648, and 0.00712, respectively). The linkage disequilibrium among these F13A1 SNPs is negligible (r2 &lt;.15). We also adjusted for multiple testing using the Benjamini-Hochberg procedure (significance threshold &lt;.10). SNP rs7526590 in TGFBR3, SNP rs10244884 in AQP1 and SNP rs3768780 in ITGAV each had a false discovery rate (FDR) p-value of .09834. SNP rs1674074 in F13A1 had an FDR p-value of .12733. The other SNPs in F13A1 had large FDR p-values, close to .30. We did not detect an association between priapism and genetic variation in the Klotho gene, as was previously reported by Nolan et al. (2005). Specifically, SNPs rs2249358, rs211234 and rs211239 showed a virtually identical distribution of genotypes for individuals with and without a history of priapism. However, our population is not identical to the previous study, which included patients as young as 10 years old. In conclusion, our data support the hypothesis that genetic variation is associated with risk for priapism among males with SCD and suggest that genes involved in the TGFβ pathway, coagulation, cell adhesion and cell hydration pathways may be important.


2009 ◽  
Vol 34 (5) ◽  
pp. 926-932 ◽  
Author(s):  
Seok-Ki Min ◽  
Kazuei Takahashi ◽  
Hideaki Ishigami ◽  
Kenji Hiranuma ◽  
Masuhiko Mizuno ◽  
...  

We aimed to examine the association between the angiotensin I-converting enzyme ( ACE ) gene (insertion (I) and deletion (D)) polymorphism in Japanese university track athletes and race distance, as well as to evaluate the gender effects on this association. The ACE I/D allele frequency was determined in 277 athletes (176 men, 101 women; aged 19.7 ± 1.2 years), who were then grouped on the basis of their major competitive race distances (short distance (SD), ≤200 m; middle distance (MD), 400–800 m, and long distance (LD), ≥1500 m). The ACE I allele frequency increased with the distance (44.4%, 48.4%, and 66.2% for the SD (n = 107), MD (n = 62), and LD (n = 108) groups, respectively; p < 0.001, χ2 test). On multinomial logistic regression analysis, significant associations between ACE genotype and race distance were observed only in male athletes (ID vs. SD, p = 0.004; ID vs. LD, p = 0.030; II vs. LD, p = 0.001). There was no significant association between ACE genotype and race distance in female athletes. We conclude that the ACE I allele is overrepresented in endurance athletes, and that its frequency varies depending on gender.


Sign in / Sign up

Export Citation Format

Share Document