There is little data regarding the impact of renin-angiotensin system (RAS) gene polymorphisms on tuberculosis. The current study designed to survey the possible association between RAS polymorphisms and the risk of pulmonary tuberculosis (PTB) in a sample of the southeast Iranian population. This case-control study was done on 170 PTB patients and 170 healthy subjects. The AGT rs699 C>T, ACE rs4341 C>G and AT1R rs5186 C>A variants were genotyped using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and ACE rs4646994 (287bp I/D) variant by PCR method. Regarding AT1R rs5186 A>C polymorphism, the findings revealed that AC genotype and C allele significantly decreased the risk of PTB (OR=0.39, 95% CI=0.22-0.67, p=0.001, and OR=0.53, 95% CI=0.25-0.72, p=0.002, C vs. A, respectively). The TC genotype and C allele of AGT rs699 T>C significantly associated with decreased the risk of PTB (OR=0.45, 95% CI=0.28-0.74, p=0.002, TC vs. TT and OR=0.51, 95% CI=0.32-0.80, p=0.005, C vs. T, respectively). The ID genotype of ACE 287bp I/D significantly increased the risk of PTB (OR=1.88, 95% CI=1.12-3.17, p=0.017). Our finding did not support an association between ACE rs4341 C>G variant and the risk of PTB. In summary, the findings revealed an association between AT1R rs5186 A>C, AGT rs699 T>C and ACE 287bp I/D polymorphisms and the risk of PTB in a sample of the southeast Iranian population. Further investigation with higher sample sizes and diverse ethnicities are required to confirm our findings.

• Klíčová slova
• Angiotensin, Angiotensin converting enzyme, Angiotensin type 1 receptor, Polymorphism, Tuberculosis,
• MeSH
• angiotensin konvertující enzym * genetika   MeSH
• angiotensinogen genetika   MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• lidé MeSH
• plicní tuberkulóza * genetika   MeSH
• polymorfismus genetický MeSH
• receptor angiotensinu typ 1 genetika   MeSH
• studie případů a kontrol MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Írán epidemiologie   MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• AGT protein, human MeSH Prohlížeč
• AGTR1 protein, human MeSH Prohlížeč
• angiotensin konvertující enzym * MeSH
• angiotensinogen MeSH
• receptor angiotensinu typ 1 MeSH

BACKGROUND: Recurrent aphthous stomatitis (RAS) is multifactorial disease with unclear etiopathogenesis. The aim of this study was to determine distribution of the angiotensin I converting enzyme (ACE) gene polymorphisms and their influence on RAS susceptibility in Czech population. METHODS: The study included 230 subjects (143 healthy controls and 87 patients with RAS) with anamnestic, clinical and laboratory data. Five ACE gene polymorphisms (rs4291/rs4305/rs4311/rs4331/rs1799752 = ACE I/D) were determined by TaqMan technique. RESULTS: The allele and genotype distributions of the studied ACE I/D polymorphisms were not significantly different between subjects with/without RAS (Pcorr > 0.05). However, carriers of II genotype were less frequent in the RAS group (OR = 0.48, 95% CI = 0.21-1.12, P = 0.059). Stratified analysis by sex demonstrated lower frequency of II genotype in women (OR = 0.33, 95% CI = 0.09-1.17, P < 0.035, Pcorr > 0.05, respectively) than in men with RAS (P > 0.05). Moreover, the frequency of AGTGD haplotype was significantly increased in RAS patients (OR = 13.74, 95% CI = 1.70-110.79, P = 0.0012, Pcorr < 0.05). In subanalysis, TGD haplotype was significantly more frequent in RAS patients (P < 0.00001) and CGI haplotype was less frequent in RAS patients (P < 0.01), especially in women (P = 0.016, Pcorr > 0.05). CONCLUSIONS: Our study indicates that while the AGTGD and TGD haplotypes are associated with increased risk of RAS development, CGI haplotype might be one of protective factors against RAS susceptibility in Czech population.

• Klíčová slova
• Angiotensin I converting enzyme, Haplotype, Polymorphism, Recurrent aphthous stomatitis, Sex difference,
• MeSH
• aftózní stomatitida * epidemiologie   genetika   MeSH
• angiotensin konvertující enzym * genetika   MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• lidé MeSH
• polymorfismus genetický MeSH
• studie případů a kontrol MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• angiotensin konvertující enzym * MeSH

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) rapidly spread from China in 2019/2020 to all continents. Significant geographical and ethnic differences were described, and host genetic background seems to be important for the resistance to and mortality of COVID-19. Angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism (rs4646994) is one of the candidates with the potential to affect infection symptoms and mortality. METHODS: In our study, we successfully genotyped 408 SARS-CoV-2-positive COVID-19 survivors (163 asymptomatic and 245 symptomatic) and compared them with a population-based DNA bank of 2,559 subjects. RESULTS: The frequency of ACE I/I homozygotes was significantly increased in COVID-19 patients compared with that in controls (26.2% vs. 21.2%; P = 0.02; OR [95% CI] = 1.55 [1.17-2.05]. Importantly, however, the difference was driven just by the symptomatic subjects (29.0% vs. 21.2% of the I/I homozygotes; P = 0.002; OR [95% CI] = 1.78 [1.22-2.60]). The genotype distribution of the ACE genotypes was almost identical in population controls and asymptomatic SARS-CoV-2-positive patients (P = 0.76). CONCLUSIONS: We conclude that ACE I/D polymorphism could have the potential to predict the severity of COVID-19, with I/I homozygotes being at increased risk of symptomatic COVID-19.

• Klíčová slova
• ACE, COVID-19, Insertion/deletion, Polymorphism,
• MeSH
• angiotensin konvertující enzym genetika   MeSH
• COVID-19 * MeSH
• lidé MeSH
• přežívající MeSH
• SARS-CoV-2 * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Čína MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH

Knowledge of genomic interindividual variability could help us to explain why different manifestation of clinical severity of Covid-19 infection as well as modified pharmacogenetic relations can be expected during this pandemic condition.

• MeSH
• angiotensin konvertující enzym 2 MeSH
• angiotensin konvertující enzym genetika   MeSH
• Betacoronavirus fyziologie   MeSH
• COVID-19 MeSH
• genetická predispozice k nemoci MeSH
• interakce hostitele a patogenu genetika   MeSH
• koronavirové infekce genetika   MeSH
• lidé MeSH
• pandemie MeSH
• SARS-CoV-2 MeSH
• virová pneumonie genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• ACE2 protein, human MeSH Prohlížeč
• angiotensin konvertující enzym 2 MeSH
• angiotensin konvertující enzym MeSH

In the current study, pyroglutamic acid (pGlu), a natural amino acid derivative, has efficiently inhibited the catalytic activities of three important enzymes, namely: Human recombinant phosphodiesterase-5A1 (PDE5A1), human angiotensin-converting enzyme (ACE), and urease. These enzymes were reported to be associated with several important clinical conditions in humans. Radioactivity-based assay, spectrophotometric-based assay, and an Electrospray Ionization-Mass Spectrometry-based method were employed to ascertain the inhibitory actions of pGlu against PDE5A1, ACE, and urease, respectively. The results unveiled that pGlu potently suppressed the activity of PDE5A1 (half-maximal inhibitory concentration; IC50 = 5.23 µM) compared with that of standard drug sildenafil citrate (IC50 = 7.14 µM). Moreover, pGlu at a concentration of 20 µg/mL was found to efficiently inhibit human ACE with 98.2% inhibition compared with that of standard captopril (99.6%; 20 µg/mL). The urease-catalyzed reaction was also remarkably inactivated by pGlu and standard acetohydroxamic acid with IC50 values of 1.8 and 3.9 µM, respectively. Remarkably, the outcome of in vitro cytotoxicity assay did not reveal any significant cytotoxic properties of pGlu against human cervical carcinoma cells and normal human fetal lung fibroblast cells. In addition to in vitro assays, molecular docking analyses were performed to corroborate the outcomes of in vitro results with predicted structure-activity relationships. In conclusion, pGlu could be presented as a natural and multifunctional agent with promising applications in the treatment of some ailments connected with the above-mentioned anti-enzymatic properties.

• Klíčová slova
• ESI-mass spectrometry, angiotensin-converting enzyme, anti-enzymatic properties, cytotoxicity, phosphodiesterase 5, pyroglutamic acid, urease,
• MeSH
• angiotensin konvertující enzym chemie   genetika   metabolismus   MeSH
• buněčné linie MeSH
• cyklické nukleotidfosfodiesterasy, typ 5 chemie   genetika   metabolismus   MeSH
• hmotnostní spektrometrie s elektrosprejovou ionizací MeSH
• inhibiční koncentrace 50 MeSH
• kaptopril chemie   metabolismus   MeSH
• kyselina pyrrolidonkarboxylová chemie   metabolismus   toxicita   MeSH
• kyseliny hydroxamové antagonisté a inhibitory   metabolismus   MeSH
• lidé MeSH
• rekombinantní proteiny biosyntéza   chemie   izolace a purifikace   MeSH
• sildenafil citrát chemie   metabolismus   MeSH
• simulace molekulového dockingu MeSH
• spektrofotometrie MeSH
• terciární struktura proteinů MeSH
• ureasa antagonisté a inhibitory   metabolismus   MeSH
• vazebná místa MeSH
• viabilita buněk účinky léků   MeSH
• vztahy mezi strukturou a aktivitou MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• acetohydroxamic acid MeSH Prohlížeč
• angiotensin konvertující enzym MeSH
• cyklické nukleotidfosfodiesterasy, typ 5 MeSH
• kaptopril MeSH
• kyselina pyrrolidonkarboxylová MeSH
• kyseliny hydroxamové MeSH
• PDE5A protein, human MeSH Prohlížeč
• rekombinantní proteiny MeSH
• sildenafil citrát MeSH
• ureasa MeSH

OBJECTIVE: Dental caries is a multifactorial, infectious disease where genetic predisposition plays an important role. Insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme (ACE) has very recently been associated with caries in Polish children. The aim of this study was to analyze ACE I/D polymorphism in a group of caries-free children versus subjects affected by dental caries in the Czech population. MATERIALS AND METHODS: In this case-control study, 182 caries-free children (with decayed/missing/filled teeth, DMFT = 0), 561 subjects with dental caries (DMFT ≥1) aged 13-15 years and 220 children aged 2-6 years with early childhood caries (ECC, dmft ≥1) were included. Genotype determination of ACE I/D polymorphism in intron 16 was based on the TaqMan method. RESULTS: Although no significant differences in the allele or genotype frequencies between the caries-free children and those affected by dental caries were observed, statistically significant differences between the children with DMFT = 0 and the subgroup of 179 patients with high caries experience (DMFT ≥4; p < 0.01 and p < 0.05, respectively) were detected. The comparison of DD versus II+ID genotype frequencies between the patients with DMFT ≥1 or DMFT ≥4 and healthy children also showed significant differences (31.5% or 35.6% vs. 23.6%, p < 0.05 or p < 0.01, respectively). A gender-based analysis identified a significant difference in the DD versus II+ID genotype frequencies only in girls (p < 0.05). In contrast, no significant association of ACE I/D polymorphism with ECC in young children was found (p > 0.05). CONCLUSIONS: ACE I/D polymorphism may be associated with caries in permanent but not primary dentition, especially in girls in the Czech population.

• MeSH
• alely MeSH
• angiotensin konvertující enzym genetika   MeSH
• dentice trvalá * MeSH
• DMF Index MeSH
• genetická predispozice k nemoci genetika   MeSH
• genetické asociační studie MeSH
• genotyp MeSH
• introny MeSH
• lidé MeSH
• mladiství MeSH
• mutace INDEL * MeSH
• polymorfismus genetický * MeSH
• předškolní dítě MeSH
• sexuální faktory MeSH
• studie případů a kontrol MeSH
• zubní kaz epidemiologie   genetika   MeSH
• zuby mléčné * imunologie   mikrobiologie   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• angiotensin konvertující enzym MeSH

BACKGROUND: Genetic variants appear to influence, at least to some degree, the extent of brain injury and the clinical outcome of patients who have sustained a traumatic brain injury (TBI). Angiotensin-converting enzyme (ACE) is a zinc metallopeptidase that is implicated in the regulation of blood pressure and cerebral circulation. ACE gene polymorphisms were found to regulate serum ACE enzyme activity. OBJECTIVE: The present study aimed to investigate possible influence of ACE gene region variants on patients' outcome after TBI. PATIENTS AND METHODS: In total, 363 TBI patients prospectively enrolled in the study were genotyped for five tag single nucleotide polymorphisms (SNPs) across the ACE gene. Using logistic regression analyses, tag SNPs and their constructed haplotypes were tested for associations with 6-month Glasgow Outcome Scale scores, after adjustment for age, sex, Glasgow Coma Scale scores at admission, and the presence of a hemorrhagic event in the initial computed tomography scan. RESULTS: Significant effects on TBI outcome were found for three neighboring tag SNPs in the codominant (genotypic) model of inheritance [rs4461142: odds ratio (OR) 0.26, 95% confidence interval (CI) 0.12-0.57, P = 0.0001; rs7221780: OR 2.67, 95% CI 1.25-5.72, P = 0.0003; and rs8066276: OR 3.82, 95% CI 1.80-8.13, P = 0.0002; for the heterozygous variants compared with the common alleles]. None of the constructed common tag SNPs haplotypes was associated with TBI outcome. CONCLUSION: The present study provides evidence of the possible influence of genetic variations in a specific region of the ACE gene on the outcome of TBI patients. This association may have pharmacogenetic implications in identifying those TBI patients who may benefit from ACE inhibition.

• MeSH
• alely MeSH
• angiotensin konvertující enzym genetika   MeSH
• demografie MeSH
• dospělí MeSH
• frekvence genu genetika   MeSH
• genetické lokusy MeSH
• Glasgowská stupnice kómat MeSH
• haplotypy MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• multivariační analýza MeSH
• poranění mozku genetika   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• angiotensin konvertující enzym MeSH

BACKGROUND AND AIM: The objective of this research was to determine whether invasively measured central pulse pressure (PP) in patients indicated for coronarography is associated with two common polymorphisms in the ACE2 region (rs4646156 and rs4646174). METHODS: A total of 307 patients were enrolled in the study. The genotyping of both SNPs from peripheral blood samples was carried out using 5'exonuclease (Taqman®) chemistry on the ABI Prism® 7000 system (Applied Biosystems, Foster City, CA, USA). RESULTS: In both polymorphisms, the associations with central PP were found to be highly significant when all five possible genotypes in the population had been compared (p = 0.0001). In men, there was a higher incidence of previous myocardial infarction in G0 genotype carriers of rs54646174 (OR ratio = 7; p = 0.005). The AA genotype of rs4646156 had a 7.81× higher risk of severe angina pectoris in women (OR = 7.81, p = 0.05). A significant difference in allelic frequency of ACE2rs4646174 was found between women with and without significant stenoses of the circumflex branch of the left coronary artery. CONCLUSION: More research into the role of ACE2 genetic variability in PP regulations is necessary for more detailed physiological and pathophysiological comprehension of PP regulation.

• Klíčová slova
• ACE2, polymorphism, pulse pressure, severity,
• MeSH
• angiotensin konvertující enzym 2 MeSH
• angiotensin konvertující enzym genetika   MeSH
• demografie MeSH
• dospělí MeSH
• genetická predispozice k nemoci MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• kardiovaskulární nemoci diagnostické zobrazování   enzymologie   genetika   patofyziologie   MeSH
• koronární angiografie * MeSH
• krevní tlak * MeSH
• lidé středního věku MeSH
• lidé MeSH
• multivariační analýza MeSH
• pulz MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• ACE2 protein, human MeSH Prohlížeč
• angiotensin konvertující enzym 2 MeSH
• angiotensin konvertující enzym MeSH

AIMS: The aim of the study was to investigate genetic variants predicting cardiovascular events in patients with dyslipidemia and compare its relationship with common risk factors including hyperlipidemia, metabolic syndrome, history of acute myocardial infarction, thrombosis, obesity, and smoking. MATERIALS AND METHODS: Five hundred two individuals divided into six groups corresponding with the risk factors and a control group of normolypidemic patients were analyzed for the presence of eight mutations and polymorphisms (endothelial nitric oxide synthase -786T → C and G894T; lymphotoxin A C804A; angiotensin-converting enzyme [ACE] ins/del; human platelet antigen 1 a/b; beta-fibrinogen -455G → A; apolipoprotein B [ApoB] R3500Q; APOE E2/E3/E4) using the ViennaLab CVD Strip assay. RESULTS: ACE deletions are the most frequent genetic variants in risk groups of dyslipidemic patients (from 58% in cardiovascular events to 51% in smokers). We found a strong relationship between genetic variants and risk factors. G894T is significantly associated with smoking (value of odds ratio [OR] = 1.62, p = 0.04), and ACE deletions are negatively associated with cardiovascular events (OR = 0.62, p = 0.03). CONCLUSION: Significant associations between genetic variants predicting cardiovascular events and common risk factors in dyslipidemic patients were found.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• dospělí MeSH
• dyslipidemie genetika   MeSH
• genetická predispozice k nemoci MeSH
• genetická variace * MeSH
• genotyp MeSH
• kardiovaskulární nemoci genetika   MeSH
• kouření genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mutace MeSH
• polymorfismus genetický MeSH
• prediktivní hodnota testů MeSH
• rizikové faktory MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• synthasa oxidu dusnatého, typ III genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH
• NOS3 protein, human MeSH Prohlížeč
• synthasa oxidu dusnatého, typ III MeSH

Hereditary angiooedema (HAE) is a life-threatening disease with poor clinical phenotype correlation with its causal mutation in the C1 inhibitor (SERPING1) gene. It is characterized by substantial symptom variability even in affected members of the same family. Therefore, it is likely that genetic factors outside the SERPING1 gene have an influence on disease manifestation. In this study, functional polymorphisms in genes with a possible disease-modifying effect, B1 and B2 bradykinin receptors (BDKR1, BDKR2), angiotensin-converting enzyme (ACE) and mannose-binding lectin (MBL2), were analysed in 36 unrelated HAE patients. The same analysis was carried out in 69 HAE patients regardless of their familial relationship. No significant influence of the studied polymorphisms in the BDKR1, BDKR2, ACE and MBL2 genes on overall disease severity, localization and severity of particular attacks, frequency of oedema episodes or age of disease onset was detected in either group of patients. Other genetic and/or environmental factors should be considered to be responsible for HAE clinical variability in Caucasians.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• dospělí MeSH
• fenotyp MeSH
• hereditární angioedémy genetika   patofyziologie   MeSH
• lektin vázající mannosu genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• receptor bradykininu B1 genetika   MeSH
• receptor bradykininu B2 genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• angiotensin konvertující enzym MeSH
• lektin vázající mannosu MeSH
• MBL2 protein, human MeSH Prohlížeč
• receptor bradykininu B1 MeSH
• receptor bradykininu B2 MeSH