Base de dados : LILACS
Pesquisa : G05.330 [Categoria DeCS]
Referências encontradas : 575 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 58 ir para página                         

  1 / 575 LILACS  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: biblio-828128
Autor: Naderi, Mohammad; Hashemi, Mohammad; Safdari, Abolhassan; Bahari, Gholamreza; Taheri, Mohsen.
Título: Association of genetic polymorphisms of CISH with the risk of pulmonary tuberculosis in Zahedan, Southeast Iran
Fonte: Braz. j. infect. dis;20(4):379-383, July-Aug. 2016. tab, graf.
Idioma: en.
Resumo: Abstract Background In the current study we aimed to find out the impact of cytokine-inducible Src homology 2 domain protein (CISH) gene polymorphisms on the risk of pulmonary tuberculosis (PTB) in a sample of Iranian population. Materials and methods Polymorphisms of CISH rs2239751, rs414171, and rs6768300 were determined in 200 PTB patients and 200 healthy subjects using T-ARMS-PCR or PCR-RFLP method. Results The results showed that rs414171 A>T genotypes significantly decreased the risk of PTB (OR = 0.16, 95% CI = 0.10–0.27, p < 0.0001, AT vs AA; OR = 0.31, 95% CI = 0.14–0.68, p < 0.0001, TT vs AA; OR = 0.19, 95% CI = 0.12–0.29, p < 0.0001, AT+TT vs AA; OR = 0.29, 95%CI = 0.20–0.42, p < 0.0001, T vs A). For rs6768300, the findings indicated that this variant decreased the risk of PTB (OR = 0.52, 95% CI = 0.33–0.82, p = 0.005, CG vs GG; OR = 0.57, 95% CI = 0.38–0.87, p = 0.012, C vs G). No significant association was observed between CISH rs2239751 polymorphism and risk/protection of PTB. Conclusion Our findings indicated that CISH rs414171 and rs6768300 variants might be associated with protection from PTB.
Descritores: Tuberculose Pulmonar/genética
Predisposição Genética para Doença/genética
Proteínas Supressoras da Sinalização de Citocina/genética
-Estudos de Casos e Controles
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Frequência do Gene
Genótipo
Irã (Geográfico)
Limites: Humanos
Masculino
Feminino
Pessoa de Meia-Idade
Responsável: BR1.1 - BIREME


  2 / 575 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: biblio-828158
Autor: Yuan, Jun; Zhang, Yan; Yan, Fu-tang; Zheng, Xiao.
Título: Association of PRKAA1 gene polymorphisms with chronic hepatitis B virus infection in Chinese Han population
Fonte: Braz. j. infect. dis;20(6):564-568, Nov.-Dec. 2016. tab, graf.
Idioma: en.
Projeto: National High Technology Research and Development Program 863; . Shaanxi Province Natural Science Foundation Research Project.
Resumo: ABSTRACT Objective: Studies have indicated that AMPK play critical roles in the regulation of innate immunity and inflammatory responses. However, the role of the polymorphisms of PRKAA1 gene in immune-response to infectious organisms remains unknown. To evaluate the potential role of PRKAA1/AMPKα1 in the immune-response to HBV, we conducted this case-control study. Methods: We recruited 276 patients (145 men and 131 women; average age, 51.6 years) with chronic HBV infection (CHB) and 303 healthy controls (166 men and 137 women; average age, 54.2 years). All the subjects were unrelated individuals of Chinese Han Population. Three SNPs of PRKAA1gene were tested. Results: Rs1002424 polymorphism showed significant difference in the allele frequencies, but no difference in the genotype frequencies (allele: p = 0.039411, OR95%CI = 0.783479 [0.621067-0.988362]; genotype: p = 0.104758); rs13361707 polymorphism showed significance in allele analysis, but not in genotype analysis (allele: p = 0.034749, OR95%CI = 1.284303 [1.017958-1.620335]; genotype: p = 0.098027); rs3792822 polymorphism was demonstrated to have significant differences in both genotype and allele frequencies between cases and controls (allele: p = 0.029286, OR95%CI= 0.741519 [0.566439-0.970716]; genotype: p = 0.034560). The haplotype results showed that CTG and TCA in the rs13361707-rs1002424-rs3792822 block were significantly associated with the happening of HBV (CTG: p = 0.036854, OR95%CI = 1.281 [1.015-1.617]; p = 0.030841, OR95%CI = 0.743 [0.568-0.973]). Conclusion: These findings suggest that PRKAA1 polymorphisms may contribute to the susceptibility of chronic HBV infection in Chinese Han origin.
Descritores: Polimorfismo Genético/genética
Hepatite B Crônica/genética
Predisposição Genética para Doença/genética
Proteínas Quinases Ativadas por AMP/genética
-Estudos de Casos e Controles
Hepatite B Crônica/enzimologia
Grupo com Ancestrais do Continente Asiático
Frequência do Gene
Genótipo
Limites: Humanos
Masculino
Feminino
Pessoa de Meia-Idade
Responsável: BR1.1 - BIREME


  3 / 575 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: biblio-888896
Autor: Rani, Asima; Nawaz, Syed Kashif; Irfan, Shazia; Arshad, Muhammad; Bashir, Razia; Shaheen, Najma.
Título: Role of MyD88-adaptor-like gene polymorphism rs8177374 in modulation of malaria severity in the Pakistani population
Fonte: Braz. j. infect. dis;21(4):418-423, July-Aug. 2017. tab.
Idioma: en.
Resumo: Abstract Introduction: The present study was designed to investigate the association between rs8177374 polymorphism and malaria symptoms due to exposure of Plasmodium vivax and Plasmodium falciparum. Materials and methods: A total of 454 samples were included in the study (228 malaria patients and 226 healthy individuals). Malaria patients, divided into P. vivax and P. falciparum groups on the basis of the causative species of Plasmodium, were categorized into mild and severe on the basis of clinical outcomes according to WHO criteria. Healthy individuals were used as controls. Allele specific PCR based strategy was used for the identification of rs8177374 SNP. Results: MyD88-adaptor-like gene polymorphism was associated with susceptibility to malaria (p < 0.001). C allele frequency (0.74) was higher in the population compared to T allele frequency (0.26). CT genotype increased the susceptibility of malaria (OR: 2.661; 95% CI: 1.722-4.113) and was positively associated with mild malaria (OR: 5.609; 95% CI: 3.479-9.044, p = 0.00). On the other hand, CC genotype was associated with severe malaria (OR: 3.116; 95% CI: 1.560-6.224, p = 0.00). P. vivax infection rate was higher in CT genotype carriers compared to other genotypes (OR: 3.616; 95% CI: 2.219-5.894, p < 0.001). Conclusion: MyD88-adaptor-like/TIR domain containing adaptor protein polymorphism for single nucleotide polymorphism rs8177374 is related with the susceptibility of malaria.
Descritores: Glicoproteínas de Membrana/fisiologia
Malária Vivax/genética
Malária Falciparum/genética
Receptores de Interleucina-1/fisiologia
Predisposição Genética para Doença/genética
Polimorfismo de Nucleotídeo Único
-Paquistão
Índice de Gravidade de Doença
Glicoproteínas de Membrana/genética
Estudos de Casos e Controles
Reação em Cadeia da Polimerase
Receptores de Interleucina-1/genética
Frequência do Gene
Genótipo
Limites: Humanos
Masculino
Feminino
Adulto
Responsável: BR1.1 - BIREME


  4 / 575 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: biblio-974206
Autor: Carneiro, Valdirene Leão; Bendicho, Maria Teresita; Santos, Rosalina Guedes; Casela, Marilda; Netto, Eduardo M; Mota, Scarlet Torres Moraes; Pina, Iza Cristina Araújo; Nascimento, Roberto Meyer; Freire, Songeli Menezes; Barbosa, Theolis.
Título: Interferon-gamma release assay performance in northeastern Brazil: influence of the IFNG+874 A>T polymorphism
Fonte: Braz. j. infect. dis;22(3):202-207, May-June 2018. tab, graf.
Idioma: en.
Projeto: Conselho Nacional de Desenvolvimento Científico e Tecnológico; . Fundação de Amparo à Pesquisa do Estado da Bahia.
Resumo: ABSTRACT Introduction Latent tuberculosis infection diagnosis based on the release of interferon-gamma in cultures of peripheral blood cells stimulated with Mycobacterium tuberculosis antigens has replaced the tuberculin skin test in many countries with low tuberculosis prevalence. The IFN-γ production can be influenced by genetic polymorphisms, of which the IFNG + 874 (rs62559044) locus is the most studied. We investigated the possible influence of the IFNG + 874 A/T polymorphism on interferon-gamma test performance. Methods Patients diagnosed with pulmonary tuberculosis (75), volunteers with positive tuberculin skin test (70) and healthy volunteers with negative tuberculin skin test and no history of contact with tuberculosis (57) were evaluated regarding the IFNG + 874 genotype and the IFN-γ levels in whole blood cultures performed using an interferon-gamma commercial kit (QuantiFERON-TB® Gold In-Tube). Results IFN-γ production was not influenced by the IFNG + 874 genotype, regardless of antigen or mitogen-based stimulation, which suggests that other genes may influence IFN-γ production in response to mycobacteria. The IFNG + 874 polymorphism was found to exert no influence over QFT-IT test sensitivity in our study. Conclusions The IFNG + 874 polymorphism was not shown to influence QuantiFERON-TB® Gold In-Tube test performance in an admixed population from northeastern Brazil.
Descritores: Polimorfismo Genético/genética
Tuberculose Pulmonar/diagnóstico
Interferon gama/genética
Testes de Liberação de Interferon-gama/métodos
Mycobacterium tuberculosis/genética
-Brasil
Teste Tuberculínico
Estudos de Casos e Controles
Reprodutibilidade dos Testes
Sensibilidade e Especificidade
Interferon gama/metabolismo
Estatísticas não Paramétricas
Técnicas de Genotipagem
Frequência do Gene
Genótipo
Limites: Humanos
Masculino
Feminino
Responsável: BR1.1 - BIREME


  5 / 575 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
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


  6 / 575 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: biblio-1011576
Autor: Angulo, Juan Manuel Cubillos; Cuesta, Taryn Ariadna Castro; Menezes, Eliane Pereira; Pedroso, Celia; Brites, Carlos.
Título: HLA-B*14 allele predicts HIV-1 mother-to-child-transmission, in Salvador, Brazil
Fonte: Braz. j. infect. dis;23(2):71-78, Mar.-Apr. 2019. tab, graf.
Idioma: en.
Resumo: ABSTRACT Background: Class I human leukocyte antigens, especially the molecules encoded at the B locus (HLA-B), are associated with AIDS progression risk. Different groups of HLA-B alleles have been associated to a protective effect or increasing susceptibility to HIV infection and are expressed from the earliest stages of gestation. Objective: The aim of this study was to evaluate which variants of HLA-B are associated with the risk of HIV vertical transmission in infected pregnant women and in their offspring, in a referral center in Salvador Bahia. Methods: We performed HLA-B genotyping in 52 HIV-infected mothers and their children exposed to HIV-1 during pregnancy (N = 65) in Salvador, Brazil. We compared the HLA-B alleles frequency in mothers, uninfected and infected children, according to the use of antiretroviral prophylaxis. Results: Absence of antiretroviral antenatal and postnatal prophylaxis was significantly associated with vertical transmission of HIV-1 (p = <0.01, and p = <0.01 respectively). Frequency of HLA-B*14 (29.2%, p = 0.002), HLA-B*18 (16.7%, p = 0.04) or HLA-B*14:1 (20.8%, p = 0.01) alleles subgroups were significantly higher in HIV-1 infected children and persisted (HLA-B*14, p = 0.04) even after adjusting for use of antiretroviral prophylaxis. No significant difference in expression of HLA-B alleles was observed among mothers who transmitted the virus compared to those who did not. Conclusions: Expression of HLA-B*14 allele in children exposed to HIV-1 is predictive of vertical transmission and reinforces the important role of genetics in mother-to-child transmission.
Descritores: Infecções por HIV/genética
Infecções por HIV/transmissão
Transmissão Vertical de Doença Infecciosa/estatística & dados numéricos
Alelos
Antígeno HLA-B14/genética
-Valores de Referência
Fatores Socioeconômicos
Brasil/epidemiologia
Infecções por HIV/sangue
Modelos Logísticos
Estudos Transversais
Valor Preditivo dos Testes
Fatores de Risco
Medição de Risco
Progressão da Doença
Antígeno HLA-B14/sangue
Técnicas de Genotipagem
Frequência do Gene
Limites: Humanos
Masculino
Feminino
Criança
Responsável: BR1.1 - BIREME


  7 / 575 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Chile
Texto completo
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


  8 / 575 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: biblio-950492
Autor: Takitani, Guilherme Eiichi da Silva; Azevedo, Alexandre Gomes Bortoloti de; Motta, Fabiana Louise; Teixeira, Sérgio Henrique; Sallum, Juliana Maria Ferraz; Vessani, Roberto Murad.
Título: Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report / Síndrome de esfoliação associada a polimorfismos do gene LOXL1 em paciente negro da América Latina: relato de caso
Fonte: Arq. bras. oftalmol;81(5):437-439, Sept.-Oct. 2018. graf.
Idioma: en.
Resumo: ABSTRACT A 89-year-old Black female with a 6-year history of advanced open-angle glaucoma was referred to the Glaucoma Service of the Ophthalmology Department - Federal University of São Paulo (UNIFESP). Best-corrected visual acuity was 20/400 in the right eye and 20/60 in the left eye. Pseudoexfoliation material was observed at the iris border, angle, and the anterior lens surface. Anterior biomicroscopy revealed exfoliation material forming an evident peripheral zone and a central disc separated by a clear intermediate zone on the anterior lens surface OU. Gonioscopy showed an open-angle Sampaolesis's line and whitish material deposits OU. Fundus examination revealed a cup-to-disc ratio of 1.0 OU with peripapillary atrophy. Genetic analysis for single nucleo­tide polymorphisms of the lysyl oxidase-like 1 gene linked to exfoliation syndrome identified two such single nucleotide polymorphisms, rs1048661 and rs216524.

RESUMO Uma mulher negra de 89 anos com um histórico de seis anos de glaucoma avançado de ângulo aberto avançado foi encaminhada ao Serviço de Glaucoma do Departamento de Oftalmologia da Universidade Federal de São Paulo (UNIFESP). A acuidade visual melhor corrigida era 20/400 no olho direito e 20/60 no olho esquerdo. Material pseudo-exfoliativo foi observado na borda iriana, ângulo e superfície anterior do cristalino. A biomicroscopia de segmento anterior demonstrou material exfoliativo formando uma zona periférica evidente e um disco central separado por uma zona intermediária livre na cápsula anterior do cristalino. A gonioscopia mostrou uma linha de Sampaolesi de ângulo aberto e depósitos esbranquiçados. O exame de fundo de olho revelou disco óptico com escavação total em ambos os olhos com atrofia peripapilar. A análise genética para polimorfismos de nucleotídeo único do gene semelhante à lysyl oxidase-like 1 ligado à síndrome de esfoliação identificou dois desses polimorfismos de nucleotídeo único, rs1048661 e rs216524.
Descritores: Síndrome de Exfoliação/genética
Aminoácido Oxirredutases/genética
-Síndrome de Exfoliação/diagnóstico por imagem
Predisposição Genética para Doença
Polimorfismo de Nucleotídeo Único
Grupo com Ancestrais do Continente Africano
Frequência do Gene
Limites: Humanos
Feminino
Idoso de 80 Anos ou mais
Tipo de Publ: Relatos de Casos
Carta
Responsável: BR1.1 - BIREME


  9 / 575 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Chile
Texto completo
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


  10 / 575 LILACS  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Chile
Texto completo
Id: biblio-1094186
Autor: Pedreros-Rosales, Cristian; Jalil Milad, Roberto; Lagos Lucero, Marcela; Solari Gajardo, Sandra.
Título: Efecto de las variantes de CYP2C9 sobre la dosis de losartán en hipertensos chilenos / Association between cytochrome p4502c9 polymorphisms and losartan dosing in hypertensive patients
Fonte: Rev. méd. Chile;147(12):1527-1534, dic. 2019. tab.
Idioma: es.
Resumo: Background Losartan is widely used in many clinicals settings. Its dosage is related to the genetic characteristics of CYP2C9 enzymatic activity, which metabolizes losartan to its active form E-3174, responsible for the antihypertensive effect. Aims To identify the frequency of allelic variants CYP2C9*2 and CYP2C9*3 in hypertensive patients and to compare genotypes with a healthy Chilean population. To relate polymorphisms with the losartan dosing to obtain an optimal blood pressure. Material and Methods We studied 30 patients with controlled essential hypertension using losartan with normal liver function, and 202 healthy people. Peripheral blood DNA genotyping was performed by polymerase chain reaction to identify the polymorphisms. Allelic and genotypic frequencies were compared. Results In hypertensive patients, allelic frequencies were 0.85 (CYP2C9*1), 0.05 (CYP2C9*2) and 0.1 (CYP2C9*3). Genotypic frequencies were 73.3% (CYP2C9*1/*1), 6.7% (CYP2C9*1/*2), 16.7% (CYP2C9*1/*3) and 3.3% (CYP2C9*2/3); observing a significantly higher frequency of the allele CYP2C9*3 (p=0.041) and CYP2C9*1/*3 genotype (p=0.04). A non-significant tendency to need a larger dose of losartan was observed with the CYP2C9 * 3 allele, with an odds ratio (OR) of 1.46 (95% confidence intervals (CI) 0.01-18.64). The same tendency was observed with the need to use losartan twice a day, obtaining an OR of 5.88 (CI 0.54 -62.14). Conclusions There could be a relationship between the presence of CYP2C9 polymorphisms and the pathogenesis of hypertension. The presence of CYP2C9*3 is associated with the need for higher doses of losartan, possibly due to a decrease in the conversion of losartan to E-3174.
Descritores: Polimorfismo Genético
Losartan/administração & dosagem
Citocromo P-450 CYP2C9/genética
Hipertensão/genética
Hipertensão/tratamento farmacológico
Anti-Hipertensivos/administração & dosagem
-Frequência do Gene
Genótipo
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Tipo de Publ: Estudo Comparativo
Responsável: CL1.1 - Biblioteca Central



página 1 de 58 ir para página                         
   


Refinar a pesquisa
  Base de dados : Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde