المؤلفون: Lau, CP, Leung, RYH, Cheung, BMY, Tan, KCB

مصطلحات موضوعية: Polymerase Chain Reaction, Aging - genetics - metabolism, Alleles, Female, Gene Deletion, Genotype, Homozygote, Humans, Hypertension - enzymology - genetics, Male, Middle Aged, Myocardial Infarction - enzymology - genetics, Peptidyl-Dipeptidase A - genetics, Risk Factors

الوصف: 1. Angiotensin-converting enzyme (ACE) genotypes in hypertensive patients were studied in order to delineate their cardiovascular risk due to the ACE gene. We hypothesized that the distribution of ACE genotypes may change with age because of the risk of myocardial infarction associated with the homozygous deletional (DD) genotype. 2. A total of 223 subjects were recruited from the Hypertension Outpatient Clinic of the Sai Ying Pun Hospital with consent. They consisted of 75 patients with newly diagnosed or documented hypertension, 46 patients with ischaemic heart disease and 102 normal controls. Genomic DNA was extracted from peripheral leucocytes and amplified by polymerase chain reaction. Insertion (I) or deletion (D) alleles were identified after electrophoresis. The frequencies of ACE genotypes and alleles were measured in three age groups: < 50 years, 50-59 years and ≥60 years. 3. A significant correlation between ACE genotype and age was found (P = 0.03). The relative frequency of the D allele in those under 50 years of age was similar in controls and hypertensive patients (0.40 vs 0.41; P = 0.94), but was significantly lower in patients ≥50 years compared with those patients < 50 years of age (0.22 vs 0.41; P = 0.01). 4. The observed decrease in frequency of the DD genotype in older hypertensive patients is consistent with the increase in cardiovascular risk associated with the D allele and raises the possibility that the DD genotype may increase the risk of premature death, at least in the population studied. ; link_to_subscribed_fulltext

العلاقة: Clinical and Experimental Pharmacology and Physiology; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0031741762&selection=ref&src=s&origin=recordpageTest; Clinical And Experimental Pharmacology And Physiology, 1998, v. 25 n. 11, p. 928-931; 931; 39256; 42685; WOS:000076658800009; 11; 9807665; eid_2-s2.0-0031741762; 928; http://hdl.handle.net/10722/91679Test; 25

الإتاحة: https://doi.org/10.1111/j.1440-1681.1998.tb02345.xTest
http://hdl.handle.net/10722/91679Test

المؤلفون: Cuoco, Marco Antonio Romeo

مرشدي الرسالة: Mady, Charles

مصطلحات موضوعية: Cardiomyopathies/genetics, Miocardiopatia/genética, Peptidil dipeptidase A/genética, Peptidyl-dipeptidase A/genetics, Polimorfismo (genética)/genética, Polymorphism genetic/genetics

الوصف: O polimorfismo de inserção/deleção (I/D) do gene da enzima de conversão da angiotensina I foi estudado em coorte de sobreviventes de 333 portadores de insuficiência cardíaca, de idades entre 13 e 68 (43,3 ± 10,5) anos, 262 (78,7%) dos quais eram homens e 71 (21,3%) mulheres. O grupo controle foi constituído de 807 doadores voluntários de sangue com idades entre 18 e 60 (31,5 ± 9,3) anos, 557 (69%) dos quais eram homens e 250 (31%) mulheres. A insuficiência cardíaca foi atribuída à cardiomiopatia dilatada idiopática em 125 (37,6%) pacientes. Nos demais pacientes as etiologias foram: a cardiomiopatia insquêmica em 63 (18,9%), a cadriomiopatia da doença de Chagas em 58 (17,4%), a cardiomiopatia hipertensiva em 41 (12,3%), a cardiomiopatia alcoólica 24 (7,2%), a cardiomiopatia valvar em 11 (3,3%) e a cardiomiopatia periparto em 11 (3,3%). A determinação dos genótipos associados ao polimorfismo I/D foi realizada pela reação em cadeia da polimerase. Foram estudadas a distribuição dos genótipos entre os indivíduos do grupo controle e os pacientes e as prováveis associações do polimorfismo I/D com diferentes variáveis clínicas e com a evolução. Essas análises foram realizadas de acordo com o padrão de herança genética atribuído ao alelo D (co-dominante, recessivo ou dominante). Na análise estatística foram utilizados o teste do qui-quadrado, o teste t-Student, a análise de variância (ANOVA), o método de Kaplan-Meier, o teste log-rank e a regressão de Cox. A freqüência do genótipo DD foi menor no grupo de pacientes, considerando-se o caráter recessivo atribuído ao alelo D (p=0,034). Os portadores do genótipo DD apresentaram maior média de valores do diâmetro sistólico do ventrículo esquerdo determinado pelo ecocardiograma, quando foi atribuído caráter recessivo ao alelo D (p=0,031). O intervalo decorrido do nascimento até o aparecimento dos sintomas foi menor nos portadores do genótipo DD com cardiomiopatia alcoólica, ao ser atribuído caráter recessivo ao alelo D (p=0,033). O intervalo entre o nascimento e o aparecimento dos sintomas foi menor nos portadores do genótipo DD com cardiomiopatia hipertensiva, quando foi atribuído caráter co-dominante (p=0,048) ou recessivo (p=0,024) ao alelo D. Os portadores do genótipo DD apresentaram maior mortalidade após os 50 anos, ao ser atribuído caráter co-dominante (p=0,007) ou recessivo (p=0,002) ao alelo D. As variáveis independentes relacionadas com a maior mortalidade após os 50 anos de idade, ao ser atribuído caráter recessivo ao alelo D, foram: a idade (p
Insertion/deletion (I/D) polymorphism of the angiotensin I- converting enzyme gene was studied in a cohort of survivors of 333 patients with heart failure of different etiologies and in a control group of 807 volunteer blood donors. The age of the patients ranged from 13 to 68 (43,3 ± 10,5) years, 262 (78.7%) were men and 71 (21.3%) women. The age of the control group ranged from 18 to 60 (31,5 ± 9,3) years, 557 (69%) were men and 250 (31%) women. Idiopathic dilated cardiomyopathy was diagnosed in 125 (37.6%), ischemic cardiomyopathy in 63 (18.9%), Chagas\' disease cardiomyopathy in 58 (17.4%), hypertensive cardiomyopathy in 41 (12.3%), alcoholic cardiomyopathy in 24 (7.2%), valvular cardiomyopathy in 11 (3.3%) and peripartum cadiomyopathy in 11 (3.3%). The genotypes associated with the I/D polymorphism were determined by polymerase chain reaction. The distribution of the genotypes was determined in the control and patient groups as well the possible associations of the I/D polymorphism with clinical variables and the evolution. The chi-square test, the t-Student test, the analysis of variance (ANOVA), the Kaplan-Meire method, the log-rank test and Cox regression were used in the statistical analysis. The DD genotype was less frequent in patients, assuming a recessive effect of the D allele (p=0,0034). The left ventricular en-systolic diameter by echocardiography was higher in patients with the DD genotype, ... And the DD genotype, assuming a recessive effect of the D allele (p=0,033). The time elapsed until the onset of symptoms was shorter in patients with hypertensive cardiomyopathy and the DD genotype, assuming a codominant (p=0,048) or recessive (p=0.024) effect of the D allele. Patients older than 50 years with the DD genotype showed increased mortality, assuming a codominant (p=0,007) or recessive (p=0,002) effect of the D allele. The independent variables associated with increased mortality in patients older than 50 years were: age (p

وصف الملف: application/pdf

الإتاحة: http://www.teses.usp.br/teses/disponiveis/5/5131/tde-28062010-092620Test/

المؤلفون: Marco Antonio Romeo Cuoco

مرشدي الرسالة: Charles Mady, Antonio Carlos Pereira Barretto, Barbara Maria Ianni, Paulo José Ferreira Tucci

المصدر: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

مصطلحات موضوعية: Miocardiopatia/genética, Peptidil dipeptidase A/genética, Polimorfismo (genética)/genética, Cardiomyopathies/genetics, Peptidyl-dipeptidase A/genetics, Polymorphism genetic/genetics

الوصف: O polimorfismo de inserção/deleção (I/D) do gene da enzima de conversão da angiotensina I foi estudado em coorte de sobreviventes de 333 portadores de insuficiência cardíaca, de idades entre 13 e 68 (43,3 ± 10,5) anos, 262 (78,7%) dos quais eram homens e 71 (21,3%) mulheres. O grupo controle foi constituído de 807 doadores voluntários de sangue com idades entre 18 e 60 (31,5 ± 9,3) anos, 557 (69%) dos quais eram homens e 250 (31%) mulheres. A insuficiência cardíaca foi atribuída à cardiomiopatia dilatada idiopática em 125 (37,6%) pacientes. Nos demais pacientes as etiologias foram: a cardiomiopatia insquêmica em 63 (18,9%), a cadriomiopatia da doença de Chagas em 58 (17,4%), a cardiomiopatia hipertensiva em 41 (12,3%), a cardiomiopatia alcoólica 24 (7,2%), a cardiomiopatia valvar em 11 (3,3%) e a cardiomiopatia periparto em 11 (3,3%). A determinação dos genótipos associados ao polimorfismo I/D foi realizada pela reação em cadeia da polimerase. Foram estudadas a distribuição dos genótipos entre os indivíduos do grupo controle e os pacientes e as prováveis associações do polimorfismo I/D com diferentes variáveis clínicas e com a evolução. Essas análises foram realizadas de acordo com o padrão de herança genética atribuído ao alelo D (co-dominante, recessivo ou dominante). Na análise estatística foram utilizados o teste do qui-quadrado, o teste t-Student, a análise de variância (ANOVA), o método de Kaplan-Meier, o teste log-rank e a regressão de Cox. A freqüência do genótipo DD foi menor no grupo de pacientes, considerando-se o caráter recessivo atribuído ao alelo D (p=0,034). Os portadores do genótipo DD apresentaram maior média de valores do diâmetro sistólico do ventrículo esquerdo determinado pelo ecocardiograma, quando foi atribuído caráter recessivo ao alelo D (p=0,031). O intervalo decorrido do nascimento até o aparecimento dos sintomas foi menor nos portadores do genótipo DD com cardiomiopatia alcoólica, ao ser atribuído caráter recessivo ao alelo D (p=0,033). O intervalo entre o nascimento e o aparecimento dos sintomas foi menor nos portadores do genótipo DD com cardiomiopatia hipertensiva, quando foi atribuído caráter co-dominante (p=0,048) ou recessivo (p=0,024) ao alelo D. Os portadores do genótipo DD apresentaram maior mortalidade após os 50 anos, ao ser atribuído caráter co-dominante (p=0,007) ou recessivo (p=0,002) ao alelo D. As variáveis independentes relacionadas com a maior mortalidade após os 50 anos de idade, ao ser atribuído caráter recessivo ao alelo D, foram: a idade (p
Insertion/deletion (I/D) polymorphism of the angiotensin I- converting enzyme gene was studied in a cohort of survivors of 333 patients with heart failure of different etiologies and in a control group of 807 volunteer blood donors. The age of the patients ranged from 13 to 68 (43,3 ± 10,5) years, 262 (78.7%) were men and 71 (21.3%) women. The age of the control group ranged from 18 to 60 (31,5 ± 9,3) years, 557 (69%) were men and 250 (31%) women. Idiopathic dilated cardiomyopathy was diagnosed in 125 (37.6%), ischemic cardiomyopathy in 63 (18.9%), Chagas\' disease cardiomyopathy in 58 (17.4%), hypertensive cardiomyopathy in 41 (12.3%), alcoholic cardiomyopathy in 24 (7.2%), valvular cardiomyopathy in 11 (3.3%) and peripartum cadiomyopathy in 11 (3.3%). The genotypes associated with the I/D polymorphism were determined by polymerase chain reaction. The distribution of the genotypes was determined in the control and patient groups as well the possible associations of the I/D polymorphism with clinical variables and the evolution. The chi-square test, the t-Student test, the analysis of variance (ANOVA), the Kaplan-Meire method, the log-rank test and Cox regression were used in the statistical analysis. The DD genotype was less frequent in patients, assuming a recessive effect of the D allele (p=0,0034). The left ventricular en-systolic diameter by echocardiography was higher in patients with the DD genotype, ... And the DD genotype, assuming a recessive effect of the D allele (p=0,033). The time elapsed until the onset of symptoms was shorter in patients with hypertensive cardiomyopathy and the DD genotype, assuming a codominant (p=0,048) or recessive (p=0.024) effect of the D allele. Patients older than 50 years with the DD genotype showed increased mortality, assuming a codominant (p=0,007) or recessive (p=0,002) effect of the D allele. The independent variables associated with increased mortality in patients older than 50 years were: age (p

الإتاحة: http://www.teses.usp.br/teses/disponiveis/5/5131/tde-28062010-092620Test/

المؤلفون: Hilbert, P., Lindpaintner, K., Beckmann, J. S., Serikawa, T., Soubrier, F., Dubay, C., Cartwright, P., De Gouyon, B., Julier, C., Takahasi, S., Vincent, M., Ganten, D., Georges, M., Lathrop, G.M.

المصدر: Nature, vol. 353, no. 6344, pp. 521-9

مصطلحات موضوعية: Animals Base Sequence Chromosome Mapping Hypertension/*genetics Linkage (Genetics) Molecular Sequence Data Peptidyl-Dipeptidase A/genetics Polymerase Chain Reaction Rats Rats, Inbred SHR/genetics Rats, Inbred WKY/genetics Receptors, Cell Surface/genetics Receptors, Nerve Growth Factor Receptors, Somatotropin/genetics X Chromosome

الوصف: The spontaneously hypertensive rat and the stroke-prone spontaneously hypertensive rat are useful models for human hypertension. In these strains hypertension is a polygenic trait, in which both autosomal and sex-linked genes can influence blood pressure. Linkage studies in crosses between the stroke-prone spontaneously hypertensive rat and the normotensive control strain Wistar-Kyoto have led to the localization of two genes, BP/SP-1 and BP/SP-2, that contribute significantly to blood pressure variation in the F2 population. BP/SP-1 and BP/SP-2 were assigned to rat chromosomes 10 and X, respectively. Comparison of the human and rat genetic maps indicates that BP/SP-1 could reside on human chromosome 17q in a region that also contains the angiotensin I-converting enzyme gene (ACE). This encodes a key enzyme of the renin-angiotensin system, and is therefore a candidate gene in primary hypertension. A rat microsatellite marker of ACE was mapped to rat chromosome 10 within the region containing BP/SP-1.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/1656270; info:eu-repo/semantics/altIdentifier/pissn/0028-0836; https://serval.unil.ch/notice/serval:BIB_0799C114A94CTest

الإتاحة: https://doi.org/10.1038/353521a0Test
https://serval.unil.ch/notice/serval:BIB_0799C114A94CTest

المؤلفون: Hilbert, P, Lindpaintner, K, Beckmann, J S, Serikawa, T, Soubrier, F, Dubay, C, Cartwright, P, De Gouyon, B, Julier, C, Takahasi, S, Vincent, M, Gante, D, Georges, Michel, Lathrop, G.M.

المصدر: Nature, 353 (6344), 521 - 529 (1991-10-10)

مصطلحات موضوعية: Receptors, Cell Surface, Receptors, Nerve Growth Factor, Receptors, Somatotropin, Peptidyl-Dipeptidase A, Animals, Base Sequence, Chromosome Mapping, Genetic Linkage, Hypertension/genetics, Molecular Sequence Data, Peptidyl-Dipeptidase A/genetics, Polymerase Chain Reaction, Rats, Rats, Inbred SHR/genetics, Rats, Inbred WKY/genetics, Receptors, Cell Surface/genetics, Receptors, Somatotropin/genetics, X Chromosome, Multidisciplinary, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

الوصف: The spontaneously hypertensive rat and the stroke-prone spontaneously hypertensive rat are useful models for human hypertension. In these strains hypertension is a polygenic trait, in which both autosomal and sex-linked genes can influence blood pressure. Linkage studies in crosses between the stroke-prone spontaneously hypertensive rat and the normotensive control strain Wistar-Kyoto have led to the localization of two genes, BP/SP-1 and BP/SP-2, that contribute significantly to blood pressure variation in the F2 population. BP/SP-1 and BP/SP-2 were assigned to rat chromosomes 10 and X, respectively. Comparison of the human and rat genetic maps indicates that BP/SP-1 could reside on human chromosome 17q in a region that also contains the angiotensin I-converting enzyme gene (ACE). This encodes a key enzyme of the renin-angiotensin system, and is therefore a candidate gene in primary hypertension. A rat microsatellite marker of ACE was mapped to rat chromosome 10 within the region containing BP/SP-1.

العلاقة: http://www.nature.com/articles/353521a0Test; urn:issn:0028-0836; urn:issn:1476-4687

الوصول الحر: https://orbi.uliege.be/handle/2268/309563Test

المؤلفون: Miranda de Graaf, Hans Duimel, Joep Beumer, Peter J. Peters, Bart L. Haagmans, Willine J. van de Wetering, Tim I Breugem, Jelte van der Vaart, Elly van Donselaar, J. Paul van Schayck, Samra Riesebosch, Debby Schipper, Hans Clevers, Kèvin Knoops, Anna Z Mykytyn, Edwin Cuppen, Mart M. Lamers, Helma J.H. Kuijpers, Raimond B. G. Ravelli, Marion Koopmans, Jens Puschhof

المساهمون: Virology, Hubrecht Institute for Developmental Biology and Stem Cell Research, Microscopy CORE Lab, Institute of Nanoscopy (IoN), RS: M4I - Nanoscopy

المصدر: Science
Science (New York, N.y.)
Science, 369(6499), 50-54. American Association for the Advancement of Science
Science, 369(6499), 50-54. American Association for the Advancement of Science (AAAS)

مصطلحات موضوعية: 0301 basic medicine, RNA, Messenger/genetics, Male, SARS Virus/physiology, viruses, Cell Culture Techniques, ACE2, Gene Expression, CORONAVIRUS, Disease, ENTEROIDS, medicine.disease_cause, Virus Replication, Lung/virology, 0302 clinical medicine, Receptors, NETWORK, Respiratory system, Receptor, skin and connective tissue diseases, Lung, Research Articles, Coronavirus, Virus/genetics, 0303 health sciences, Multidisciplinary, Transmission (medicine), virus diseases, Cell Differentiation, Microbio, Intestinal epithelium, 3. Good health, Organoids, Titer, medicine.anatomical_structure, Severe acute respiratory syndrome-related coronavirus, 030220 oncology & carcinogenesis, Angiotensin-converting enzyme 2, Receptors, Virus, Angiotensin-Converting Enzyme 2, Coronavirus Infections, Research Article, EXPRESSION, Virus genetics, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pneumonia, Viral, Receptors, Virus/genetics, Ileum, Peptidyl-Dipeptidase A/genetics, Respiratory Mucosa, Biology, Peptidyl-Dipeptidase A, 03 medical and health sciences, Betacoronavirus, Ileum/metabolism, medicine, Humans, Cell Lineage, RNA, Messenger, Pandemics, Enterocytes/metabolism, 030304 developmental biology, Cell Proliferation, Betacoronavirus/physiology, SARS-CoV-2, R-Articles, fungi, RNA, COVID-19, biology.organism_classification, Virology, respiratory tract diseases, Culture Media, Gastrointestinal Microbiome, body regions, 030104 developmental biology, Respiratory Mucosa/virology, Enterocytes, Viral replication, Cell culture, REPLICATION, Messenger/genetics, Cell Biol

الوصف: Intestinal organoids as an infection model Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes an influenza-like disease with a respiratory transmission route; however, patients often present with gastrointestinal symptoms such as diarrhea, vomiting, and abdominal pain. Moreover, the virus has been detected in anal swabs, and cells in the inner-gut lining express the receptor that SARS-CoV-2 uses to gain entry to cells. Lamers et al. used human intestinal organoids, a “mini-gut” cultured in a dish, to demonstrate that SARS-CoV-2 readily replicates in an abundant cell type in the gut lining—the enterocyte—resulting in the production of large amounts of infective virus particles in the intestine. This work demonstrates that intestinal organoids can serve as a model to understand SARS-CoV-2 biology and infectivity in the gut. Science , this issue p. 50

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8acdfeea3d0eafa02ce7a4ed2afe1ea5Test

المؤلفون: Cialoni D, Claudio Marabotti, Sponsiello N, Pieri M, Balestra C, Lucchini V, Marroni A

المساهمون: Anatomical Research and Clinical Studies, Basic (bio-) Medical Sciences, Body Composition and Morphology

المصدر: Europe PubMed Central
Undersea & hyperbaric medicine, 42 (1
Scopus-Elsevier

مصطلحات موضوعية: Adult, Male, Genotype, Hemoptysis -- enzymology -- genetics, Peptidyl-Dipeptidase A/genetics, Hygiène et médecine sportives, Polymorphism, Single Nucleotide, Diving/adverse effects, Humans, Genetic Predisposition to Disease, Nitric Oxide Synthase Type III -- genetics, Diving -- adverse effects, Médecine pathologie humaine, Education physique, Sciences bio-médicales et agricoles, Breath Holding -- genetics, Peptidyl-Dipeptidase A -- genetics, Mutagenesis, Insertional, Hemoptysis/enzymology, Breath Holding/genetics, Nitric Oxide Synthase Type III/genetics, Médecine de l'environnement, Female, human activities, Gene Deletion

الوصف: Breath-hold diving-induced hemoptysis (BH-DIH) has been reported in about 25% breath-hold divers (BHD) and is characterized by dyspnea, coughing, hemoptysis and chest pain. We investigated whether eNOS G894T, eNOS T786C and ACE insertion/deletion I/D genetic variants, are possible BH-DIH risk factors.
info:eu-repo/semantics/published

وصف الملف: 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2f9c20fcc52f5982e1f39d400e8d0c8eTest
http://europepmc.org/abstract/med/26094307Test

المؤلفون: Ayfer Atalay, Günfer Turgut, Erol Ömer Atalay, Osman Genç, Sebahat Turgut

المصدر: Scopus-Elsevier
Acta Medica, Vol 47, Iss 2, Pp 133-136 (2004)

مصطلحات موضوعية: Male, Turkey, Turkish, lcsh:Medicine, Turkey (republic), Physical performance, 0302 clinical medicine, 0504 sociology, Genotype, genetic polymorphism, genetics, ACE I/D polymorphism, endurance, biology, 05 social sciences, article, Sports physiology, General Medicine, Chromosome 17 (human), female, language, Female, Sports, Adult, medicine.medical_specialty, 050402 sociology, dipeptidyl carboxypeptidase, Peptidyl-Dipeptidase A, 03 medical and health sciences, Athlete, Internal medicine, medicine, Humans, human, Allele, Gene, 030203 arthritis & rheumatology, Sedentary, Polymorphism, Genetic, lcsh:R, Intron, Angiotensin-converting enzyme, language.human_language, Endocrinology, Peptidyl-Dipeptidase A/*genetics, Physical Endurance, biology.protein, sport

الوصف: 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.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cb9d666fe31335b02364315835f36e5Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-4944258307&partnerID=MN8TOARSTest

المؤلفون: Cuoco, Marco Antonio Romeo

المساهمون: Mady, Charles

مصطلحات موضوعية: Cardiomyopathies/genetics, Miocardiopatia/genética, Peptidil dipeptidase A/genética, Peptidyl-dipeptidase A/genetics, Polimorfismo (genética)/genética, Polymorphism genetic/genetics

الوصف: O polimorfismo de inserção/deleção (I/D) do gene da enzima de conversão da angiotensina I foi estudado em coorte de sobreviventes de 333 portadores de insuficiência cardíaca, de idades entre 13 e 68 (43,3 ± 10,5) anos, 262 (78,7%) dos quais eram homens e 71 (21,3%) mulheres. O grupo controle foi constituído de 807 doadores voluntários de sangue com idades entre 18 e 60 (31,5 ± 9,3) anos, 557 (69%) dos quais eram homens e 250 (31%) mulheres. A insuficiência cardíaca foi atribuída à cardiomiopatia dilatada idiopática em 125 (37,6%) pacientes. Nos demais pacientes as etiologias foram: a cardiomiopatia insquêmica em 63 (18,9%), a cadriomiopatia da doença de Chagas em 58 (17,4%), a cardiomiopatia hipertensiva em 41 (12,3%), a cardiomiopatia alcoólica 24 (7,2%), a cardiomiopatia valvar em 11 (3,3%) e a cardiomiopatia periparto em 11 (3,3%). A determinação dos genótipos associados ao polimorfismo I/D foi realizada pela reação em cadeia da polimerase. Foram estudadas a distribuição dos genótipos entre os indivíduos do grupo controle e os pacientes e as prováveis associações do polimorfismo I/D com diferentes variáveis clínicas e com a evolução. Essas análises foram realizadas de acordo com o padrão de herança genética atribuído ao alelo D (co-dominante, recessivo ou dominante). Na análise estatística foram utilizados o teste do qui-quadrado, o teste t-Student, a análise de variância (ANOVA), o método de Kaplan-Meier, o teste log-rank e a regressão de Cox. A freqüência do genótipo DD foi menor no grupo de pacientes, considerando-se o caráter recessivo atribuído ao alelo D (p=0,034). Os portadores do genótipo DD apresentaram maior média de valores do diâmetro sistólico do ventrículo esquerdo determinado pelo ecocardiograma, quando foi atribuído caráter recessivo ao alelo D (p=0,031). O intervalo decorrido do nascimento até o aparecimento dos sintomas foi menor nos portadores do genótipo DD com cardiomiopatia alcoólica, ao ser atribuído caráter recessivo ao alelo D (p=0,033). O intervalo entre o nascimento e o aparecimento ...

وصف الملف: application/pdf

الإتاحة: http://www.teses.usp.br/teses/disponiveis/5/5131/tde-28062010-092620Test/

المصدر: Science vol.369 (2020) date: 2020-07-03 nr.6499 p.50-54 [ISSN 0036-8075]

مستخلص: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can cause coronavirus disease 2019 (COVID-19), an influenza-like disease that is primarily thought to infect the lungs with transmission through the respiratory route. However, clinical evidence suggests that the intestine may present another viral target organ. Indeed, the SARS-CoV-2 receptor angiotensin-converting enzyme 2 (ACE2) is highly expressed on differentiated enterocytes. In human small intestinal organoids (hSIOs), enterocytes were readily infected by SARS-CoV and SARS-CoV-2, as demonstrated by confocal and electron microscopy. Enterocytes produced infectious viral particles, whereas messenger RNA expression analysis of hSIOs revealed induction of a generic viral response program. Therefore, the intestinal epithelium supports SARS-CoV-2 replication, and hSIOs serve as an experimental model for coronavirus infection and biology.

مصطلحات الفهرس: Angiotensin-Converting Enzyme 2, Betacoronavirus/physiology, Cell Culture Techniques, Cell Differentiation, Cell Lineage, Cell Proliferation, Culture Media, Enterocytes/metabolism, Gene Expression, Humans, Ileum/metabolism, Lung/virology, Male, Organoids, Peptidyl-Dipeptidase A/genetics, RNA, Messenger/genetics, Receptors, Virus/genetics, Respiratory Mucosa/virology, SARS Virus/physiology, SARS-CoV-2, Virus Replication, Artikel, Article

URL: https://pure.knaw.nl/portal/en/publications/1f5000b0-2223-4e59-bb0b-0bdfbf3d3dd0Test