Letter to the Editor:Hardy–Weinberg equilibrium and association study of insertion/deletion polymorphism of ACE gene and Alzheimer’s disease in Egyptian patients

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Роль генетического маркера эндотелиальной дисфункции гена АСЕ в патогенезе гломерулонефрита

Виявлено взаємозв’язок між клінічними особливостями хронічного гломерулонефриту й I/D поліморфізмом гена АСЕ. При DD-варіанті генотипу були відмічені високий ступінь протеінурії, зниження швидкості клубочкової фільтрації, прогресування ниркової недостатності.The interrelationship between clinical duration of chronic glomerulonephritis and I/D gene polymorphism of angiotensin converting enzyme was detected. High level of proteinuria, decreased glomerular filtration rate and progressive renal insufficiency was observed at DD-variant of genotype

Carbamazepine inhibits angiotensin I-converting enzyme, linking it to the pathogenesis of temporal lobe epilepsy

We find that a common mutation that increases angiotensin I-converting enzyme activity occurs with higher frequency in male patients suffering from refractory temporal lobe epilepsy. However, in their brains, the activity of the enzyme is downregulated. As an explanation, we surprisingly find that carbamazepine, commonly used to treat epilepsy, is an inhibitor of the enzyme, thus providing a direct link between epilepsy and the renin-angiotensin and kallikrein-kinin systems. Translational Psychiatry (2012) 2, e93; doi:10.1038/tp.2012.21; published online 13 March 2012INNTConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Universidade Federal de São Paulo, Dept Biophys, BR-04023032 São Paulo, BrazilUniversidade Federal de São Paulo, BR-04023032 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pathol, BR-04023032 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, BR-04023032 São Paulo, BrazilUniv São Paulo, Sch Arts Sci & Humanities, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Sci & Technol, BR-04023032 São Paulo, BrazilNove de Julho Univ UNINOVE, Dept Rehabil Sci, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Biophys, BR-04023032 São Paulo, BrazilUniversidade Federal de São Paulo, BR-04023032 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pathol, BR-04023032 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, BR-04023032 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Sci & Technol, BR-04023032 São Paulo, BrazilWeb of Scienc

Angiotensin-converting enzyme I/D polymorphism in Behçet's disease

Objective: To investigate a potential relationship between I/D polymorphism within intron 16 of the angiotensin-converting enzyme (ACE) gene located on human chromosome 17 and Behçet's disease. Materials and Methods: Genomic DNA was obtained from 35 Turkish patients diagnosed with Behçet's disease according to the International Study Group criteria and 150 healthy individuals. Polymerase chain reaction was used to detect the presence of I and D (insertion and deletion) alleles in intron 16 of the ACE gene in these DNA samples. Results: We found differences in ACE I/D polymorphism between Behçet's disease and healthy controls (χ2 = 4.61, d.f. = 1, p = 0.044). In Behçet's disease patients, the D allele frequency was 84.3% and I allele frequency 15.7%. Conclusion: An association between Behçet's disease and ACE polymorphism may provide a useful basis for future molecular studies and therapeutic approaches in this complex disease. Copyright © 2005 S. Karger AG

Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism in Korean Patients with Systemic Sclerosis

To determine whether angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism is associated with the development and clinical features of systemic sclerosis (SSc) in Korean, we studied seventy two Korean patients with SSc fulfilling the ACR preliminary classification criteria. The controls were 114 healthy, disease free Koreans. ACE I/D genotypes were determined by PCR method using oligonucleotides. Sixty eight patients (94.4%) were women and age at diagnosis was 43.5±12.6 yr old (mean±SD). Thirty nine patients (54.2%) had a diffuse type of SSc. There were no statistical differences in the frequencies of all ACE I/D genotypes and D allele between patients and controls, and neither between diffuse and limited types of SSc. ACE I/D gene polymorphism was not associated with the development of SSc in Korea. The investigation for the pathogenesis of SSc requires more studies about the role of other candidate genes such as endothelin, TGF-β, nitric oxide, or angiotensin II receptor in addition to the ACE genes

Variations in angiotensin-converting enzyme gene insertion/deletion polymorphism in Indian populations of different ethnic origins

The pattern of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism in the Indian population is poorly known. In order to determine the status of the polymorphism, young unrelated male army recruits were screened. The population had cultural and linguistic differences and lived in an environment that varied significantly from one region to another. Analysis of the genotype, showed higher frequency of the insertion allele in four of the five groups i.e. I allele frequency was significantly higher (P<005) in Dogras, Assamese and Kumaonese. The deletion allele frequency was comparatively higher in the fifth group that belonged to Punjab. A correlation was observed between the genotype and enzyme activity. Involvement of a single D allele in the genotype enhanced the activity up to 37.56 ± 313%. The results suggested ethnic heterogeneity with a significant gene cline with higher insertion allele frequency. Such population-based data on various polymorphisms can ultimately be exploited in pharmacogenomics

Функциональное состояние аппарата дыхания у больных ХОБЛ, гетерозиготных по аллелю D гена ангиотензин-превращающего фермента

IMSP Institutul de Ftiziopneumologie Chiril Draganiuc, Conferinţa consacrată aniversării celor 40 de ani de la fondarea SCM Sfânta Treime 17 iunie 2016 Chișinău, Republica MoldovaThe study involved 30 patients with COPD, heterozygous for an allele D (ID genotype) gene of angiotensin-converting enzyme (ACE). Installed in patients spirometry indices, body plethysmography and lung transfer factor for COPD, evidence of pronounced disorders of pulmonary ventilation on obstructive type, lung hyperinflation and marked decrease in lung diffusion capacity. COPD patients heterozygous for an allele D ACE gene, relate primarily to the patients group D („high risk”, „more symptoms”), and bronchitis with mixed COPD phenotypes.Было обследовано 30 больных ХОБЛ, гетерозиготных по аллелю D (ID генотип) гена ангиотензинпревращающего фермента (AПФ). Установленные у больных показатели спирометрии, бодиплетизмографии и трансфер-фактора легких с ХОБЛ, свидетельствуют о выраженных нарушениях легочной вентиляции по обструктивному типу, легочной гиперинфляции и выраженном снижении диффузионной способности легких. Больные ХОБЛ, гетерозиготные по аллелю D гена АПФ, относятся преимущественно к пациентам группы D („высокий риск”, „больше симптомов”), с бронхитическим и смешанным фенотипами ХОБЛ

Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene

We identified a novel large insertion/deletion (Indel) polymorphism of 1464 bp localized in intron 18 of the human thyroglobulin gene. Data from sequence showed a high A+T content (62%), two 17-bp long motif repeats, and three different types of 10-bp long palindromic sequences. The comparison between these 1464 bp and sequences deposited in National Center for Biotechnology Information (NCBI)/GenBank database exhibit a nonsignificant degree of homology with any previously described sequences. The long polymerase chain reaction (PCR) method was used to amplify the genomic DNA region containing intron 17/exon 18/intron 18/exon 19/intron 19 by primers situated in the introns 17 and 19. The amplification generates two fragments of 3.5 and 5.0 kb that correspond to the exclusion or inclusion of a 1464-bp segment, respectively. Both variants are thus widely represented in the human population; giving allele frequencies of 0.56 (insertion) and 0.44 (deletion). Finally, the polymorphism was confirmed by sequence analysis of the 5.0- and 3.5-kb amplified fragments.Fil: Moya, Christian M.. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; ArgentinaFil: Varela, Viviana. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; ArgentinaFil: Rivolta, Carina Marcela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; ArgentinaFil: Mendive, Fernando M. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; ArgentinaFil: Targovnik, Hector Manuel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentin