BACKGROUND: We evaluated the associations among angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism, ACE activity and post-myocardial infarction (MI) left ventricular dysfunction and acute heart failure (AHF) early after presentation with MI with ST-segment elevation (STEMI). METHODS: A total of 556 patients with STEMI treated by primary PCI (421 patients without AHF and 135 patients with AHF) were the study population. The activity of BNP, NT-ProBNP and ACE were measured at hospital admission and 24 h after MI onset. Left ventricular angiography was done before PCI; echocardiography was undertaken between the third and fifth day after MI. RESULTS: In comparison with the II genotypes group, the DD/ID group had a higher level of ACE activity upon hospital admission (p < 0.001). We found a significantly higher level of ACE activity in patients with moderate LV dysfunction (EF 40-54%) in comparison both with patients with preserved LV function (EF ≥ 55%) and with patients with severe LV dysfunction (p = 0.028). A non-significant trend towards a higher incidence of mild AHF (22.1% vs. 16.02%, p = 0,093), a significantly higher value of end-systolic volume (ESV/BSA) (30.0 ± 12.3 vs. 28.5 ± 13.0; p < 0.05) and lower EF (50.2 ± 11.1 vs. 52.7 ± 11.7; p < 0.05) in the DD/ID genotypes group was noted. Even after multiple adjustments according to multivariate models, the EF for the DD/ID group remained significantly lower (p = 0,033). The DD/ID genotypes were associated with a significantly higher risk of EF <45% (OR 2.04 [95% CI 1.28; 3.25]). CONCLUSIONS: These results suggest that the I/D polymorphism of ACE is associated with the development of LV dysfunction in the acute phase after STEMI. We demonstrated for the first time an association of the low ACE activity with the severe LV dysfunction, although patients with moderate LV dysfunction had higher level ACE activity than patients with preserved LV function.

• MeSH
• akutní nemoc MeSH
• angiotensin konvertující enzym genetika   fyziologie   MeSH
• balónková koronární angioplastika MeSH
• delece genu * MeSH
• dysfunkce levé srdeční komory etiologie   genetika   MeSH
• infarkt myokardu komplikace   terapie   MeSH
• inzerční mutageneze * MeSH
• lidé MeSH
• polymorfismus genetický * MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH

• MeSH
• arterioskleróza enzymologie   genetika   MeSH
• cystathionin-beta-synthasa genetika   MeSH
• dítě MeSH
• dospělí MeSH
• inzerční mutageneze * MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• polymorfismus genetický * MeSH
• předškolní dítě MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• cystathionin-beta-synthasa MeSH

INTRODUCTION: Insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene influenced the plasma concentration of the ACE, and is D allele have been repetitively suggested as a risk factor for myocardial infarction (MI). MATERIAL AND METHODS: Two hundert thirty six male myocardial infarction survivors under 65 years and with body mass index and total plasma cholesterol levels under 95% of the Czech population were included in the study. As control group, 302 male controls (1% randomly selected group from the Czech population) were genotyped. I/D polymorphism in the ACE gene was determined using polymerase chain reaction. RESULTS: The prevalence of the I/I, I/D and D/D genotypes was 0.218, 0.494 and 0.288, in the control group, and 0.178, 0.538 and 0.284, in the myocardial survivors, respectively. The male Czech population has the similar frequency of insertion and deletion alleles compared to other Caucasian populations. The frequencies of the alleles and genotypes of the ACE gene did not differ significantly between MI survivors and a control sample of the Czech population. CONCLUSION: It was shown that the I/D polymorphism in the gene for ACE is not a genetic risk factor for myocardial infarction in the Czech population.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• cholesterol krev   MeSH
• delece genu * MeSH
• dospělí MeSH
• genotyp MeSH
• HDL-cholesterol krev   MeSH
• index tělesné hmotnosti MeSH
• infarkt myokardu enzymologie   genetika   patofyziologie   MeSH
• krevní tlak MeSH
• LDL-cholesterol krev   MeSH
• lidé středního věku MeSH
• lidé MeSH
• polymorfismus genetický * MeSH
• přežívající MeSH
• referenční hodnoty MeSH
• transpozibilní elementy DNA * MeSH
• triglyceridy krev   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH
• cholesterol MeSH
• HDL-cholesterol MeSH
• LDL-cholesterol MeSH
• transpozibilní elementy DNA * MeSH
• triglyceridy MeSH

In order to investigate the contribution of candidate genes in the RAAS in pathogenesis of EAH, we analysed the M235T polymorphism of the angiotensinogen gene, and the I/D polymorphism of ACE gene in a group of adult Caucasians (Slovene population) with EAH. Four-hundred and thirteen unrelated subjects with the diagnosis of EAH were included in the association study and they were compared to 414 subjects with normal blood pressure (the control group). The M235T angiotensinogen genotype distribution in patients with EAH (TT = 23.2%, MT = 48.7%, MM = 28.1%) did not differ from genotype distribution in controls (TT = 21.1%, MT = 49.0%, MM = 29.9%), and the TT genotype was not associated with EAH (OR 1.1; 95% CI 0.7-1.7; P = 0.6). Moreover, The I/D ACE genotype distribution in patients with EAH (DD = 32.0%, ID = 48.2%, II = 19.8%) did not differ from genotype distribution in controls (DD = 32.2%, ID = 49.0%, II = 18.8%), and the DD genotype was not associated with EAH (OR 1.0; 95% CI 0.7-1.3; P = 0.9). In conclusion, we failed to demonstrate that the M235T angiotensinogen polymorphism and the ACE I/D polymorphism were genetic markers for EAH in adult Caucasians.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• angiotensinogen genetika   MeSH
• běloši genetika   MeSH
• genotyp MeSH
• hypertenze genetika   MeSH
• lidé MeSH
• methionin genetika   MeSH
• polymorfismus genetický genetika   MeSH
• studie případů a kontrol MeSH
• threonin genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• angiotensin konvertující enzym MeSH
• angiotensinogen MeSH
• methionin MeSH
• threonin 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

Insertion-deletion polymorphisms (INDELs) are diallelic markers derived from a single mutation event. Their low mutation frequency makes them suitable for forensic and parentage testing. The examination of INDELs thus combines advantages of both short tandem repeats (STR) and single nucleotide polymorphisms (SNP). This type of polymorphisms may be examined using as small amplicon size as SNP (about 100 bp) but could be analyzed by techniques used for routine STR analysis. For our population study, we genotyped 55 unrelated Czech individuals. We also genotyped 11 trios to analyze DIPplex Kit (QIAGEN, Germany) suitability for parentage testing. DIPplex Kit contains 30 diallelic autosomal markers. INDELs in DIPplex Kit were tested with linkage disequilibrium test, which showed that they could be treated as independent markers. All 30 loci fulfill Hardy-Weinberg equilibrium. There were several significant differences between Czech and African populations, but no significant ones within European population. Probability of a match in the Czech population was 1 in 6.8 × 10(12); combined power of discrimination was 99.9999999999%. Average paternity index was 1.13-1.77 for each locus; combined paternity index reached about 27,000 for a set of 30 loci. We can conclude that DIPplex kit is useful as an additional panel of markers in paternity cases when mutations in STR polymorphisms are present. For application on degraded or inhibited samples, further optimization of buffer and primer concentrations is needed.

• MeSH
• analýza určování pohlaví metody   MeSH
• DNA fingerprinting metody   MeSH
• frekvence genu MeSH
• genotyp MeSH
• lidé MeSH
• mikrosatelitní repetice MeSH
• multiplexová polymerázová řetězová reakce MeSH
• mutace INDEL * MeSH
• paternita * MeSH
• polymorfismus genetický * MeSH
• populační genetika * MeSH
• rasové skupiny genetika   MeSH
• vazebná nerovnováha 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

The luteinizing hormone receptor (LHCGR) has a little studied polymorphic 6 bp insertion (rs4539842/insLQ). This study has evaluated the insLQ polymorphism in relation to potential associations with hormonal characteristics of human small antral follicles (hSAFs). In total, 310 hSAFs were collected from 86 women undergoing fertility preservation. Analysis included hormonal profile of 297 follicular fluid (FF) samples and 148 corresponding granulosa cells samples were evaluated by qPCR for selected genes. Significantly reduced and non-detectable mRNA levels of anti-Müllerian hormone receptor II (AMHR2) and LHCGR, respectively, were observed for insLQ/insLQ compared to -/insLQ and the -/- genotypes. Moreover, LHCGR and CYP19a1 together with oestradiol and inhibin-B were significantly increased in -/insLQ compared to the -/- genotype. The homozygous insLQ genotype showed strong significant associations to GC specific genes LHCGR and CYP19a1, which may translate into significant changes in FF hormone profiles and an altered LH signaling.

• Klíčová slova
• Follicle fluid, Human small antral follicles, LHR, rs4539842,
• MeSH
• dospělí MeSH
• folikulární buňky metabolismus   MeSH
• folikulární tekutina metabolismus   MeSH
• genotyp MeSH
• hormony metabolismus   MeSH
• inzerční mutageneze * MeSH
• lidé MeSH
• messenger RNA genetika   metabolismus   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• ovariální folikul metabolismus   MeSH
• polymorfismus genetický * MeSH
• receptory LH genetika   MeSH
• regulace genové exprese * MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• hormony MeSH
• messenger RNA MeSH
• receptory LH MeSH

The angiotensin converting enzyme (ACE) gene is located on human chromosome 17 expressing three genotypes within the intron 16 of the related gene structure. These genotypes are classified as I and D alleles which are termed as insertion and deletion, respectively. This study was carried out to identify possible relationships between the insertion/deletion (I/D) polymorphisms and athletic performance in Turkish athletes. To be able to determine these relationships, eighty healthy athletes and eighty healthy sedentary controls were genotyped for the ACE I/D polymorphism at gene level. According to the results obtained, we found significant difference on ACE I/D polymorphism in between athletes and healthy controls (x2 = 7.32, df = 2, P = 0.026). This result supports the association in ACE genotype in Turkish athletes, suggesting that this might be a genetic factor influencing the physical performance.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• dospělí MeSH
• fyzická vytrvalost MeSH
• genotyp MeSH
• lidé MeSH
• polymorfismus genetický * MeSH
• sporty * MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Turecko MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH

BACKGROUND: Smoking as a major risk factor for development of cancer and cardiovascular disease is thought to be partially genetically determined. The aim of this study was to investigate whether there is an association between insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme (ACE) and smoking status and the number of cigarettes smoked per week. METHODS: Using polymerase chain reaction, I/D polymorphism was evaluated in the ACE gene in 1204 male and 1375 female representative Caucasians. Information about smoking status and number of cigarettes smoked per week was collected via a questionnaire. RESULTS: Frequencies of the alleles and genotypes of ACE I/D polymorphism did not differ between smokers, past smokers and individuals who had never smoked. No association was found between ACE I/D polymorphism and the number of cigarettes smoked per week, either in males or in females. CONCLUSION: I/D polymorphism in the ACE gene does not play any role in genetic determination of predisposition to smoking.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• dospělí MeSH
• genetická predispozice k nemoci MeSH
• kouření * MeSH
• lidé středního věku MeSH
• lidé MeSH
• odvykání kouření MeSH
• polymorfismus genetický * MeSH
• poruchy vyvolané užíváním tabáku epidemiologie   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Československo epidemiologie   MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH

Obesity is a serious health problem worldwide and many genes have been implicated in determination of obesity, but our knowledge of the genes responsible for individual differences in weight loss after physical intervention are poor. One of the candidate genes is a gene for angiotensin-converting enzyme (ACE) ant its insertion/deletion (I/D) polymorphism. We have analyzed the association between the ACE gene variant in intervened obese females. Twenty four unrelated healthy obese (BMI > 29.9 kg/m(2), with abdominal type of obesity) premenopausal (age between 25 and 45 years) Czech Caucasian sedentary and non-diabetic females, pre-selected according the ACE I/D polymorphism (twelve II and twelve DD homozygotes) were studied in a medical research centre. They underwent 9 weeks intervention program (combination of the lowering of dietary intake to optimal level for the age and 3 times a week physical activity at fitness centre). The participants were supervised to sustain a heart rate of 65 % of maximum. Anthropometrical, biochemical parameters and body composition (Bodystat 1500) were analyzed before and after the intervention. Our study suggest, that in Czech Caucasian females I/D polymorphism within the ACE gene will have no major effect on weight loss. Interestingly, we have detected, that in obese females II genotype was associated with higher increase in basal metabolic rate (202 kcal per day) then in DD homozygotes (p<0.05), thus at least under some circumstances, this genetic variant may have an slight effect on BMI development.

• MeSH
• abdominální obezita enzymologie   etnologie   genetika   terapie   MeSH
• angiotensin konvertující enzym genetika   MeSH
• dospělí MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• hmotnostní úbytek genetika   MeSH
• homozygot MeSH
• index tělesné hmotnosti MeSH
• kombinovaná terapie MeSH
• lidé středního věku MeSH
• lidé MeSH
• polymorfismus genetický * MeSH
• redukční dieta MeSH
• rizikové faktory MeSH
• sedavý životní styl * etnologie   MeSH
• terapie cvičením MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH