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1.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;46(4): 368-347, 05/abr. 2013. tab, graf
Artigo em Inglês | LILACS | ID: lil-671389

RESUMO

Exaggerated blood pressure response (EBPR) during the exercise treadmill test (ETT) has been considered to be a risk factor for hypertension. The relationship of polymorphisms of the renin-angiotensin system gene with hypertension has not been established. Our objective was to evaluate whether EBPR during exercise is a clinical marker for hypertension. The study concerned a historical cohort of normotensive individuals. The exposed individuals were those who presented EBPR. At the end of the observation period (41.7 months = 3.5 years), the development of hypertension was analyzed within the two groups. Genetic polymorphisms and blood pressure behavior were assessed as independent variables, together with the classical risk factors for hypertension. The I/D gene polymorphism of the angiotensin-converting enzyme and M235T of angiotensinogen were ruled out as risk factors for hypertension. EBPR during ETT is not an independent influence on the chances of developing hypertension. No differences were observed between the hypertensive and normotensive individuals regarding gender (P = 0.655), skin color (P = 0.636), family history of hypertension (P = 0.225), diabetes mellitus (P = 0.285), or hypertriglyceridemia (P = 0.734). The risk of developing hypertension increased with increasing body mass index (BMI) and advancing age. The risk factors, which independently influenced the development of hypertension, were age and BMI. EBPR did not constitute an independent risk factor for hypertension and is probably a preclinical phase in the spectrum of normotension and hypertension.


Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Pressão Sanguínea/fisiologia , Hipertensão/fisiopatologia , Fatores Etários , Angiotensinogênio/genética , Índice de Massa Corporal , Pressão Sanguínea/genética , Estudos de Coortes , Teste de Esforço , Hipertensão/enzimologia , Hipertensão/genética , Polimorfismo Genético , Peptidil Dipeptidase A/genética , Estudos Retrospectivos , Fatores de Risco
2.
J Mol Neurosci ; 48(1): 253-6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22531885

RESUMO

There is a growing need to curate the overwhelming amount of sequencing data which is available in many public databases. For instance, new information shows that the M235T polymorphism at the angiotensinogen gene (AGT) is actually positioned at the position corresponding to the amino acid 268 and not 235. This polymorphism is filled as rs699 in the NCBI SNP database and results in the synthesis of a threonine (T) instead of a methionine (M). It has been widely studied and associated as an important risk factor for several vascular and neuropsychiatric conditions. We faced this new situation during the targeted sequencing of 360 chromosomes from Brazilian subjects studied for the M235T polymorphism, leading to the identification of a novel variation (rs141900991). This report explores the potential impact of such a dinucleotide variation, which promotes the change of alanine (A) to serine (S) at the AGT protein structure (A237S). Considering the previous M268T variation at the four possible haplotypes combined (MA, MS, TA and TS), we performed a comparative hydrophobicity simulation, using the Kyte-Doolittle algorithm, available at the CLB Bio workbench, in the four possible haplotypes. Additional simulations were performed using the programs PolyPhen, I-Mutant and SIFT, in order to evaluate the pathogenicity of both mutations. The predicted hydrophobicity decreases of a similar magnitude, with both MS and TA haplotypes, but the presence of both variations induces a major decrease in hydrophobicity, suggesting a cumulative effect, with possible modifying effect since that this variation per se would limit the hydrophobicity range and the latter chances in finding significant phenotype differences. A better characterization of this kind of variant is particularly important because the current genome wide scan analyses in complex disorders with cardiac or neural etiology are not generating reliable findings, especially if we consider the huge investment with such approach. Additional and unknown variations like this one, with potential modifying effect, might be more common than previously expected.


Assuntos
Angiotensinogênio/genética , Doenças Cardiovasculares/genética , Transtornos Mentais/genética , Polimorfismo de Nucleotídeo Único/genética , Brasil/epidemiologia , Doenças Cardiovasculares/epidemiologia , Bases de Dados Genéticas/normas , Variação Genética/genética , Haplótipos , Humanos , Transtornos Mentais/epidemiologia , Fatores de Risco
3.
Mem. Inst. Oswaldo Cruz ; 97(6): 871-875, Sept. 2002. tab, mapas, graf
Artigo em Inglês | LILACS | ID: lil-320148

RESUMO

Random amplified polymorphic DNA (RAPD) analysis technique was undertaken in Aedes albopictus populations from three states in Brazil, Rio de Janeiro (RJ), Minas Gerais (MG) and Pernambuco (PE), to estimate the level of genetic variability and levels of genetic exchange between populations. Allele and genotype frequencies were measured on 47 RAPD loci. Average observed heterozigosity (Ho) ranged from 0.282 in MG to 0.355 in Casa Forte (PE) population. Genetic distances estimates indicated that RJ and MG were more genetically similar than populations from PE. Genetic variation observed in local Brazilian populations was attributed to genetic drift associated with restricted gene flow in recently established populations


Assuntos
Animais , Feminino , Aedes , Variação Genética , Insetos Vetores , Sequência de Bases , Brasil , Primers do DNA , Polimorfismo Genético , Técnica de Amplificação ao Acaso de DNA Polimórfico
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