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Margarido, Vladimir Pavan
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Id: biblio-1135393
Autor: Kowalski, Samantha; Paiz, Leonardo Marcel; Silva, Maelin da; Machado, Amanda de Souza; Feldberg, Eliana; Traldi, Josiane Baccarin; Margarido, Vladimir Pavan; Lui, Roberto Laridondo.
Título: Chromosomal analysis of Centromochlus heckelii (Siluriformes: Auchenipteridae), with a contribution to Centromochlus definition
Fonte: Neotrop. ichthyol;18(3):e200009, 2020. tab, graf, ilus.
Idioma: en.
Resumo: Historically, there are divergences in the species allocation between Centromochlus and Tatia. This study aimed to generate the first cytogenetic data about Centromochlus and, by analyzing a population of Centromochlus heckelii from the Amazon River basin, to contribute as evidence to a historical taxonomic dilemma. Diploid number of 46 chromosomes and a heteromorphic pair was found in the female karyotypes, thus characterizing a ZZ/ZW sex chromosome system. Pale blocks of heterochromatin were located in centromeric regions of some chromosomes; however, the exclusive female chromosome (W) is almost entirely heterochromatic. AgNORs were detected in terminal position on the short arms of one acrocentric pair in males and two chromosome pairs in females, the acrocentric plus the sex chromosome pair. Notable differences between Centromochlus heckelii and previous data about species of Tatia are: lower diploid number, presence of a sex chromosome system and multiple AgNORs in Centromochlus, while species of Tatia have simple AgNORs and the absence of acrocentric chromosomes. Results in this study show that chromosomal markers could contribute as evidence to taxonomic delimitation studies.(AU)

Historicamente, há divergências na alocação de espécies entre Centromochlus e Tatia. Este estudo teve como objetivo gerar os primeiros dados citogenéticos para Centromochlus e, através da análise de uma população de Centromochlus heckelii da bacia do rio Amazonas, contribuir como evidência para o dilema histórico taxonômico. Foi encontrado o número diploide de 46 cromossomos e um par heteromórfico nos cariótipos das fêmeas, o que caracteriza um sistema sexual ZZ/ZW. Blocos pálidos de heterocromatina foram localizados na região centromérica de alguns cromossomos; no entanto, o cromossomo exclusivo das fêmeas (W) se apresenta quase todo heterocromático. As AgRONs foram detectadas na posição terminal do braço curto de um par acrocêntrico nos machos e em dois pares cromossômicos nas fêmeas, um par de cromossomos acrocêntricos e o par sexual. Notáveis diferenças entre os dados cromossômicos de Centromochlus heckelii e os dados anteriores das espécies de Tatia são: menor número diploide, presença de sistema de cromossomos sexuais e AgRONs múltiplas em Centromochlus, enquanto espécies de Tatia apresentam AgRON simples e ausência de cromossomos acrocêntricos. Resultados deste estudo mostram que marcadores cromossômicos podem contribuir como evidência para estudos de delimitação taxonômica.(AU)
Descritores: Peixes-Gato
Análise Citogenética
Citogenética
-Marcadores Genéticos
Ecossistema Amazônico
Limites: Animais
Responsável: BR68.1 - Biblioteca Virginie Buff D'Ápice


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Id: biblio-1144207
Autor: Cohen, Carina; Figueiredo, Eduardo A; Belangero, Paulo S; Andreoli, Carlos Vicente; Leal, Mariana Ferreira; Ejnisman, Benno.
Título: Genetic Aspects in Shoulder Disorders / Aspectos genéticos nas afecções do ombro
Fonte: Rev. bras. ortop;55(5):537-542, Sept.-Oct. 2020.
Idioma: en.
Resumo: Abstract The influence of genetic inheritance has been increasingly investigated in shoulder disorders, such as rotator cuff injury, instability and frozen shoulder. Although the initial findings are enlightening, it is necessary to progressively build a database of genetic markers to catalog genomic profiles that, later, may contribute for predicting the risk of the disease, as well as to the development of better diagnostic and treatment tools. The present article seeks to update what is evidence of genetic studies in the literature for these diseases, from polymorphism analyses, expression of candidate genes in tissues and broad genomic association studies (GWAS). However, it is necessary to point out that there is great difficulty in replicating and using the findings, mainly due to the lack of statistical power, the high rate of false-positive results and the large number of variables involved.

Resumo A influência da herança genética tem sido cada vez mais investigada nas afecções do ombro, como a lesão do manguito rotador, instabilidade e ombro congelado. Ainda que os achados iniciais sejam pouco esclarecedores, é necessário construir progressivamente um banco de marcadores genéticos para catalogar perfis genômicos que, mais adiante, poderão contribuir para a previsão do risco da doença, desenvolvimento de melhores ferramentas de diagnóstico e tratamento. O presente artigo busca atualizar o que há de evidências de estudos genéticos na literatura para essas doenças, desde análises de polimorfismos, expressão de genes candidatos em tecidos e estudos de associação genômica ampla (GWAS, na sigla em inglês). Porém, é necessário apontar que existe grande dificuldade na replicação e utilização dos achados, principalmente em razão da falta de poder estatístico, da alta taxa de resultados falso-positivos e da grande quantidade de variáveis envolvidas.
Descritores: Polimorfismo Genético
Ombro
Ferimentos e Lesões
Bursite
Marcadores Genéticos
Expressão Gênica
Incidência
Manguito Rotador
Hereditariedade
Diagnóstico
Reações Falso-Positivas
Lesões do Manguito Rotador
Responsável: BR26.1 - Biblioteca Central


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Id: lil-780813
Autor: Café Oliveira, Luita Nice; Muniz-Sobrinho, Jairo da Silva; Viana-Magno, Luiz Alexandre; Oliveira Melo, Sônia Cristina; Macho, Antonio; Rios-Santos, Fabrício.
Título: Detection of multidrug-resistant Mycobacterium tuberculosis strains isolated in Brazil using a multimarker genetic assay for katG and rpoB genes
Fonte: Braz. j. infect. dis;20(2):166-172, Mar.-Apr. 2016. tab, graf.
Idioma: en.
Resumo: Abstract Multidrug-resistant tuberculosis (MDRTB) is a serious world health problem that limits public actions to control tuberculosis, because the most used anti-tuberculosis first-line drugs fail to stop mycobacterium spread. Consequently, a quick detection through molecular diagnosis is essential to reduce morbidity and medical costs. Despite the availability of several molecular-based commercial-kits to diagnose multidrug-resistant tuberculosis, their diagnostic value might diverge worldwide since Mycobacterium tuberculosis genetic variability differs according to geographic location. Here, we studied the predictive value of four common mycobacterial mutations in strains isolated from endemic areas of Brazil. Mutations were found at the frequency of 41.9% for katG, 25.6% for inhA, and 69.8% for rpoB genes in multidrug-resistant strains. Multimarker analysis revealed that combination of only two mutations (“katG/S315T + rpoB/S531L”) was a better surrogate of multidrug-resistant tuberculosis than single-marker analysis (86% sensitivity vs. 62.8%). Prediction of multidrug-resistant tuberculosis was not improved by adding a third or fourth mutation in the model. Therefore, rather than using diagnostic kits detecting several mutations, we propose a simple dual-marker panel to detect multidrug-resistant tuberculosis, with 86% sensitivity and 100% specificity. In conclusion, this approach (previous genetic study + analysis of only prevalent markers) would considerably decrease the processing costs while retaining diagnostic accuracy.
Descritores: Proteínas de Bactérias/genética
RNA Polimerases Dirigidas por DNA/genética
Catalase/genética
Farmacorresistência Bacteriana Múltipla/genética
Isoniazida/farmacologia
Antituberculosos/farmacologia
-Rifampina/farmacologia
DNA Bacteriano
Testes de Sensibilidade Microbiana
Marcadores Genéticos
Reação em Cadeia da Polimerase
Valor Preditivo dos Testes
Sensibilidade e Especificidade
Tuberculose Resistente a Múltiplos Medicamentos/microbiologia
Genótipo
Mutação/genética
Mycobacterium tuberculosis/efeitos dos fármacos
Mycobacterium tuberculosis/genética
Limites: Humanos
Tipo de Publ: Research Support, Non-U.S. Gov't
Estudo de Validação
Responsável: BR1.1 - BIREME


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Id: biblio-974240
Autor: Coelho, Antonio V C; Moura, Ronald R de; Guimarães, Rafael L; Brandão, Lucas A C; Crovella, Sergio.
Título: Antiretroviral therapy immunologic non-response in a Brazilian population: association study using pharmaco- and immunogenetic markers
Fonte: Braz. j. infect. dis;22(5):392-401, Sept.-Oct. 2018. tab.
Idioma: en.
Projeto: FACEPE; . CNPq; . CAPES.
Resumo: ABSTRACT Background: Antiretroviral therapy (ART) saved millions from HIV-1 infection and AIDS, but some patients do not experience adequate CD4+ T cells gain despite achieving viral suppression. The genetic component of this condition is not yet completely elucidated. Objective: To identify predictive genetic markers of immune response to ART. Methods: Case-control study. Out of 176 HIV-infected patients recruited in the city of Recife, Northeast Brazil, 67 patients with no immunologic response were the cases and the remaining 109 patients who responded were the controls. A set of 94 selected single nucleotide polymorphisms (SNPs) involved in antiretroviral drugs pharmacodynamic pathways and immune system homeostasis were genotyped, while the remaining 48 were ancestry informative markers (AIMs) for controlling for eventual hidden population structure. Results: Male patients were overrepresented in non-responder group (p = 0.01). Non-responders also started with lower absolute CD4+ T cell counts (p < 0.001). We found five SNPs significantly associated with the outcome, being three more frequent in non-responders than responders: rs2243250 (IL4) A allele (p = 0.04), rs1128503 (ABCB1) A allele (p = 0.03) and rs707265 (CYP2B6) A allele (p = 0.02), whereas the other two were less frequent in non-responders: rs2069762 (IL2) C allele (p = 0.004) and rs4646437 (CYP3A4) A allele (p = 0.04). Conclusion: Some significant univariate associations remained independently associated at multivariate survival analysis modeling, such as pre-treatment CD4+ T cells counts, IL2 and ABCB1 genotypes, and use of protease inhibitors, yielding a predictive model for the probability for immune response. More studies are needed to unravel the genetic basis of ART immunological non-response.
Descritores: Infecções por HIV/imunologia
Infecções por HIV/tratamento farmacológico
Polimorfismo de Nucleotídeo Único/imunologia
Antirretrovirais/farmacologia
Sistema Imunitário/efeitos dos fármacos
-Brasil
Marcadores Genéticos
Análise Multivariada
Estudos Retrospectivos
Estatísticas não Paramétricas
Contagem de Linfócito CD4
Carga Viral
Terapia Antirretroviral de Alta Atividade
Fenômenos Imunogenéticos/efeitos dos fármacos
Fenômenos Imunogenéticos/genética
Estudos de Associação Genética
Frequência do Gene
Limites: Humanos
Masculino
Feminino
Adolescente
Adulto
Pessoa de Meia-Idade
Adulto Jovem
Responsável: BR1.1 - BIREME


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Id: biblio-1058631
Autor: Petermann-Rocha, Fanny; Lasserre-Laso, Nicole; Villagrán, Marcelo; Mardones, Lorena; Martínez, María Adela; Leiva, Ana María; Ulloa, Natalia; Celis-Morales, Carlos.
Título: Asociación del polimorfismo rs7903146, del gen TCF7L2, con marcadores de adiposidad y metabólicos en población chilena - resultados del estudio GENADIO / Association of the TCF7L2 (RS7903146) genotype with adiposity and metabolic markers in the Chilean adult population
Fonte: Rev. méd. Chile;147(8):965-976, ago. 2019. tab, graf.
Idioma: es.
Resumo: Background: Type 2 diabetes etiology has a strong genetic component. More than 20 genetic variants have been associated with diabetes and other metabolic markers. However, the polymorphism rs7903146 of the TCF7L2 gene has shown the strongest association. Aim: To investigate the association of TCF7L2 (rs7903146) genotype with adiposity and metabolic markers in the Chilean adult population. Material and Methods: The association of TCF7L2 (rs7093146) with adiposity and metabolic markers was studied in 301 participants. The outcomes of the study were adiposity markers (body weight, body mass index (BMI), fat mass and waist circumference) and metabolic markers (blood glucose, insulin, HOMA-IR, lipid profile, high sensitivity C-reactive protein (CRP), alanine aminotransferase (ALT), gamma glutamyl transpeptidase (GGT) and leptin). Results: There was an association between the polymorphism TCF7L2 genotype and fasting blood glucose. The latter increased by 4.86 mg/dl per each copy of the risk allele [(95% confidence intervals (CI): 0.48; 9.24), p = 0.03] in the unadjusted adjusted model. However, this association was slightly attenuated in the fully adjusted model [4.38 mg/dl (95% IC: 0.16; 8.60), p = 0.04)]. There were no associations between the TCF7L2 genotype and any other metabolic or adiposity outcome. Conclusions: These findings confirm the association between the TCF7L2 (rs7903146) and fasting glucose in the Chilean population. However, further studies are needed to confirm the association between the TCF7L2 and diabetes risk in the Chilean population.
Descritores: Polimorfismo de Nucleotídeo Único
Diabetes Mellitus Tipo 2/genética
Adiposidade/genética
Proteína 2 Semelhante ao Fator 7 de Transcrição/genética
-Valores de Referência
Glicemia/genética
Marcadores Genéticos
Modelos Lineares
Chile
Antropometria
Estado Nutricional
Estudos Transversais
Fatores de Risco
Diabetes Mellitus Tipo 2/metabolismo
Alelos
Adiposidade/etnologia
Estudos de Associação Genética
Frequência do Gene
Genótipo
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Adulto Jovem
Responsável: CL1.1 - Biblioteca Central


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Texto completo SciELO Chile
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Id: biblio-1094178
Autor: Araneda, Patricia; Sujima, Emi; Paredes-Manzo, Patricio; Vallejo, Rodrigo; Valdivia, Felipe; Sinning, Mariana; Gallegos, Marcela; Fuller, Gregory.
Título: Glioma difuso de línea media H3K27M positivo en adulto. Caso clínico / H3K27 positive diffuse midline glioma. Report of one case
Fonte: Rev. méd. Chile;147(11):1487-1490, nov. 2019. graf.
Idioma: es.
Resumo: The 2016 WHO Classification of Tumours of the Central Nervous System incorporates a new diagnostic entity: the mutant diffuse midline glioma H3K27, a tumor with a characteristic location and special molecular biology. We report the case of a 51-year-old male patient with progressive diplopia. The imaging study showed a mesencephalic tumor; the stereotacic biopsy disclosed an Anaplastic Astrocytoma Isocitrate dehydrogenase (IDH) wild type. The molecular study concludes H3K27 mutation. The patient was treated with radiotherapy with concurrent and adjuvant chemotherapy (temozolomide) with partial recovery of the diplopia.
Descritores: Neoplasias Encefálicas/genética
Histonas/genética
Glioma/genética
Mutação/genética
-Neoplasias Encefálicas/patologia
Neoplasias Encefálicas/diagnóstico por imagem
Imagem por Ressonância Magnética
Biomarcadores Tumorais
Marcadores Genéticos
Neuroimagem
Glioma/patologia
Glioma/diagnóstico por imagem
Limites: Humanos
Masculino
Pessoa de Meia-Idade
Tipo de Publ: Relatos de Casos
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1100921
Autor: Verdugo, Ricardo A; Genova, Alex Di; Herrera, Luisa; Moraga, Mauricio; Acuña, Mónica; Berríos, Soledad; Llop, Elena; Valenzuela, Carlos Y; Bustamante, M. Leonor; Digman, Dayhana; Symon, Adriana; Asenjo, Soledad; López, Pamela; Blanco, Alejandro; Suazo, José; Barozet, Emmanuelle; Caba, Fresia; Villalón, Marcelo; Alvarado, Sergio; Cáceres, Dante; Salgado, Katherine; Portales, Pilar; Moreno-Estrada, Andrés; Gignoux, Christopher R; Sandoval, Karla; Bustamante, Carlos D; Eng, Celeste; Huntsman, Scott; Burchard, Esteban G; Loira, Nicolás; Maass, Alejandro; Cifuentes, Lucía.
Título: Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components
Fonte: Biol. Res;53:15, 2020. tab, graf.
Idioma: en.
Projeto: FONDEF.
Resumo: BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.
Descritores: Grupos Étnicos/genética
Índios Sul-Americanos/genética
Polimorfismo de Nucleotídeo Único/genética
Grupos Populacionais/genética
Genética Populacional/organização & administração
-Saliva
Marcadores Genéticos/genética
Chile
Filogeografia
Técnicas de Genotipagem
Frequência do Gene/genética
Genótipo
Limites: Humanos
Masculino
Feminino
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1038700
Autor: Wanzeler, Ana Cláudia Viana; Barbosa, Italo Antunes França; Duarte, Bruna; Borges, Daniel; Barbosa, Eduardo Buzolin; Kamiji, Danielle; Huarachi, Delma Regina Gomes; Melo, Mônica Barbosa de; Alves, Mônica.
Título: Mechanisms and biomarker candidates in pterygium development / Mecanismos e candidatos a biomarcadores no desenvolvimento do pterígio
Fonte: Arq. bras. oftalmol;82(6):528-536, Nov.-Dec. 2019. tab, graf.
Idioma: en.
Resumo: ABSTRACT Pterygium pathogenesis has been mainly asso ciated with UV light exposure; however, this association remains quite controversial. The complete mechanism of pterygium also remains to be clarified. Factors such as inflammation, viral infection, oxidative stress, DNA methylation, inflammatory mediators, extracellular matrix modulators, apoptotic and oncogenic proteins, loss of heterozygosity, microsatellite instability, lymphangiogenesis, epithelial-mesenchymal cell transition, and alterations in cholesterol metabolism have been identified as causes. Several studies aimed to clarify the molecular mechanisms underlying the growth and proliferation of pterygium. Understanding its molecular basis provides new potential therapeutic targets for its prevention and treatment. A comprehensive search of the databases, namely, MedLine, EMBASE, and LILACS, was conducted with the following key words: pterygium, epidemiology, pathogenesis, biomarkers, and review. This review describes the epidemiology, clinical presentation, and current investigation of biological mediators involved in pterygium development.

RESUMO A patogênese do pterígio tem sido relacionada, prin cipalmente, à exposição à luz ultravioleta, mas esta asso ciação permanece bastante controversa. O mecanismo completo do pte rígio também permanece por esclarecer. Fatores como inflamação, infecção viral, estresse oxidativo, metilação do DNA, mediadores inflamatórios, moduladores de matriz extracelular, proteínas apoptóticas e oncogênicas, perda de heterozigose, instabilidade de microssatélites, linfangiogênese, transição celular epitelial-mesenquimal e alterações no metabolismo do colesterol tem sido identificados como causas. Diversos estudos visam esclarecer os mecanismos moleculares subjacentes ao crescimento e proliferação do pterígio. Entender sua base mo lecular fornece novos alvos terapêuticos potenciais para sua prevenção e tratamento. Uma busca abrangente nas bases de dados, a saber, MedLine, EMBASE e LILACS, foi realizada com as seguintes palavras-chave: pterígio; epidemiologia; patogênese; biomarcadores e revisão. Esta revisão descreve a epidemiologia, apresentação clínica e a atual investigação de mediadores biológicos envolvidos no desenvolvimento do pterígio.
Descritores: Pterígio/genética
Pterígio/metabolismo
-Marcadores Genéticos
Expressão Gênica
Genes Supressores de Tumor
Proteínas Reguladoras de Apoptose
Matriz Extracelular
Limites: Humanos
Masculino
Feminino
Tipo de Publ: Revisão
Responsável: BR1.1 - BIREME


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Id: lil-785232
Autor: Moran, Yeinmy; Labrador, Luis; Camargo, María Eugenia; Fernández, David; Chiurillo, Miguel Angel.
Título: Design of an allele-specific PCR assay to genotype the rs12255372 SNP in a pilot study of association between common TCF7L2 polymorphisms and type 2 diabetes in Venezuelans
Fonte: Arch. endocrinol. metab. (Online);60(3):246-251tab, graf.
Idioma: en.
Projeto: CDCHT-UCLA.
Resumo: Objective The global burden of diabetes mellitus will impact strongly American countries in the coming decades. Type 2 diabetes mellitus (T2DM) is a multifactorial disease and the basis for its genetic susceptibility remains not fully understood. Different population studies have demonstrated that variants of the TCF7L2 gene are strongly associated with an increased risk of T2DM. Moreover, institutions or countries with limited budget to conduct genetic research need cost effective methods for detecting DNA variants. Subjects and methods We standardized a rapid and simple allele-specific PCR method for genotyping the rs12255372 single nucleotide polymorphism (SNP) in a pilot study exploring the association of three TCF7L2 polymorphisms (rs7903146, rs12255372 and DG10S478) with T2DM in 70 patients and 73 controls from Venezuela. Results The performance of the designed allele-specific PCR reaction for rs12255372 genotyping was reliable and accurate. Patients carrying the TCF7L2 rs7903146 T allele (CT + TT genotypes) and heterozygous CT genotype had a significantly higher risk for T2DM (OR = 2.9 and 2.3, respectively). Although rs12255372 and DG10S478 risk alleles predominated in T2DM group no statistical significance was found. Conclusions We developed a novel allele-specific PCR method for easier and rapid detection of rs12255372 polymorphism without the use of expensive instrumentation and reagents. Our study in a relatively small sample of the Venezuelan population replicated the association of the rs7903146 SNP with T2DM. Further studies with larger sample size and more biochemical data should be conducted to explore the genetic basis of T2DM susceptibility in Venezuela.
Descritores: Reação em Cadeia da Polimerase/métodos
Polimorfismo de Nucleotídeo Único/genética
Diabetes Mellitus Tipo 2/genética
Alelos
Proteína 2 Semelhante ao Fator 7 de Transcrição/genética
Técnicas de Genotipagem/métodos
-Venezuela
Polimorfismo de Fragmento de Restrição
Marcadores Genéticos
Estudos de Casos e Controles
Projetos Piloto
Reprodutibilidade dos Testes
Fatores de Risco
Diabetes Mellitus Tipo 2/etnologia
Estudos de Associação Genética
Frequência do Gene
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Responsável: BR1.1 - BIREME


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Id: biblio-887629
Autor: Matia-García, Inés; Salgado-Goytia, Lorenzo; Ramos-Arellano, Luz Elena; Muñoz-Valle, José Francisco; Armenta-Solís, Adakatia; Garibay-Cerdenares, Olga Lilia; Ramírez, Mónica; Parra-Rojas, Isela.
Título: A possible association between the -2518 A>G MCP-1 polymorphism and insulin resistance in school children
Fonte: Arch. endocrinol. metab. (Online);62(1):79-86, Jan.-Feb. 2018. tab.
Idioma: en.
Resumo: ABSTRACT Objective Monocyte chemoattractant protein 1 (MCP-1) has been suggested to be involved in the pathophysiology of insulin resistance (IR); therefore, variants in the MCP-1 gene may contribute to the development of this disease. The aim of this study was to analyze the relationship of the -2518 A>G MCP-1 (rs1024611) gene polymorphism with insulin resistance in Mexican children. Subjects and methods A cross-sectional study was performed in 174 children, including 117 children without insulin resistance and 57 children with IR, with an age range of 6-11 years. Levels for serum insulin and high-sensitivity C-reactive protein were determined. The -2518 A>G MCP-1 polymorphism was identified by the polymerase chain reaction-restriction fragment length polymorphism method. Insulin resistance was defined as a HOMA-IR in the upper 75th percentile, which was ≥ 2.4 for all children. Results Genotype frequencies of the rs1024611 polymorphism for the insulin-sensitive group were 17% AA, 48% AG and 35% GG, and the frequency of G allele was 59%, whereas frequencies for the insulin-resistant group were 12% AA, 37% AG and 51% GG, and the frequency of G allele was 69%. The genotype and allele frequencies between groups did not show significant differences. However, the GG genotype was the most frequent in children with IR. The GG genotype was associated with insulin resistance (OR = 2.2, P = 0.03) in a genetic model. Conclusion The -2518 A>G MCP-1 gene polymorphism may be related to the development of insulin resistance in Mexican children.
Descritores: Resistência à Insulina/genética
Quimiocina CCL2/genética
Polimorfismo de Nucleotídeo Único/genética
-Marcadores Genéticos/genética
Estudos de Casos e Controles
Estudos Transversais
Predisposição Genética para Doença
Frequência do Gene
Genótipo
Limites: Humanos
Masculino
Feminino
Criança
Responsável: BR1.1 - BIREME



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