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Id: biblio-830070
Autor: Santos, Elaine Cristina Lima dos; Pinto, Amanda Chaves; Klumb, Evandro Mendes; Macedo, Jacyara Maria Brito.
Título: Polymorphisms in NAT2 (N-acetyltransferase 2) gene in patients with systemic lupus erythematosus / Polimorfismos no gene NAT2 (N-acetiltransferase 2) em pacientes com lúpus eritematoso sistêmico
Fonte: Rev. bras. reumatol;56(6):521-529, Nov.-Dec. 2016. tab, graf.
Idioma: en.
Projeto: National Council for Scientific and Technological Development; . Research Support Foundation of the State of Rio de Janeiro.
Resumo: ABSTRACT Objective: To investigate potential associations of four substitutions in NAT2 gene and of acetylator phenotype of NAT2 with systemic lupus erythematosus (SLE) and clinical phenotypes. Methods: Molecular analysis of 481C>T, 590G>A, 857G>A, and 191G>A substitutions in the NAT2 gene was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique, from DNA extracted from peripheral blood samples obtained from patients with SLE (n = 91) and controls (n = 97). Results and conclusions: The 857GA genotype was more prevalent among nonwhite SLE patients (OR = 4.01, 95% CI = 1.18-13.59). The 481T allele showed a positive association with hematological disorders that involve autoimmune mechanisms, specifically autoimmune hemolytic anemia or autoimmune thrombocytopenia (OR = 1.97; 95% CI = 1.01-3.81).

RESUMO Objetivo: Investigar potenciais associações de quatro substituições do gene NAT2 (N-acetiltransferase 2) e do fenótipo acetilador de NAT2 com o lúpus eritematoso sistêmico (LES) e os fenótipos clínicos. Métodos: A análise molecular das substituições 481C > T, 590G > A, 857G > A e 191G > A do gene NAT2 foi feita com a técnica de PCR-RFLP, usando DNA extraído de amostras de sangue periférico obtidas de pacientes com LES (n = 91) e controles (n = 97). Resultados e conclusões: O genótipo 857GA foi mais prevalente entre pacientes com LES não brancas (OR = 4,01, IC 95% = 1,18-13,59). O alelo 481 T apresentou associação positiva com as alterações hematológicas que envolvem mecanismos autoimunes, especificamente anemia hemolítica autoimune ou trombocitopenia autoimune (OR = 1,97; IC 95% = 1,01-3,81).
Descritores: Arilamina N-Acetiltransferase/genética
Polimorfismo de Fragmento de Restrição/genética
Lúpus Eritematoso Sistêmico/genética
-Predisposição Genética para Doença/genética
Genótipo
Limites: Humanos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-783383
Autor: Angeli-Greaves, Miriam; Pérez-Pereda, María G; Bastías, Williams; Gárate, Jon; Dannape, Doris; Greaves, Simón; Zambrano, Carlos; Golka, Klaus; Bolt, Hermann M; Fariñas, Francisco.
Título: Tabaquismo, Glutation S-Transferasa, N-Acetiltransferasa 2 y riesgo de cáncer de vejiga / Tabaquism, S-Transferase Glutation, N-Acetiltrasferase 2 and bladder cancer risk
Fonte: Rev. chil. urol;77(1):13-20, 2012. tab.
Idioma: es.
Resumo: El hábito tabáquico es el factor de riesgo más conocido para cáncer de vejiga. Ciertas arilaminas presentes en el cigarrillo han sido identificadas como carcinógenos para la vejiga en humanos. El objetivo de nuestro estudio es establecer el riesgo de padecer de cáncer de vejiga en individuos fumadores, acetiladores lentos para NAT2 y genotipos nulos de GSTM1 y GSTT1. Materiales y métodos: Se reunieron en total 150 pacientes, 75 pertenecientes al grupo de carcinoma urotelial de vejiga y 75 del grupo control, en este último no se incluyeron pacientes con enfermedad neoplásica de ninguna índole. El ADN se aisló de la muestra de sangre a partir de linfocitos utilizando un kit disponible comercialmente (QIAmp DNA Blood Mini and Maxi Kit, QIAGen GMBH). Mediante el uso de técnicas de reacción en cadena de polimerasa y de restricción/ fragmentación se determinaron los polimorfismos de las enzimas: NAT2, GSTT1 y GSTM1.Resultados: Se incluyeron un total de 150 pacientes, de los cuales 75 pertenecían al grupo controly 75 al grupo de cáncer de vejiga, la media de edad del grupo de cáncer de vejiga fue 60,5 +/-11,4 y del grupo control fue 51,3 +/- 11,4. En cuanto al género en grupo de cáncer de vejiga 64 por ciento pertenecían al sexo masculino. En el grupo control 41 por ciento pertenecían al sexo masculino. Al estudiar el hábito tabáquico se halló que 51 por ciento de los pacientes del grupo de cáncer de vejiga continuaban siendo fumadores, mientras que sólo 21 por ciento fumaba en el grupo control. En el análisis de los genotipos de la enzima NAT2 en el grupo de los pacientes con cáncer de vejiga 52 por ciento resultaron acetiladores lentos, y 4 por ciento acetiladores rápidos. En el grupo control 45 por ciento de los pacientes eran acetiladores lentos y 12 por ciento acetiladores rápidos. En cuanto a la determinación de GSTT1 19 por ciento de los pacientes del grupo de cáncer de vejiga y 24 por ciento del grupo control exhibieron el genotipo nulo...

Introduction: Smoking is the most studied risk factor for bladder cancer. Certain arilamines present in cigarettes have been identified as carcinogenic for the bladder in humans. The purpose of this study is to establish the risk of bladder cancer in smokers, slow acetilators for NAT2 and none active genotypes for GSTM1 and GSTT1. Material and methods: 150 patients were studied, 75 in the group of urothelial carcinoma of the bladder and 75 in the control group. The DNA was isolated from lymphocytes of blood samples using commercially available kit (QIAmp DNA Blood Mini and Maxi Kit, QIAG en GMBH). Enzyme polymorphisms of NAT2, GSTT1 and GSTM1 were determined using techniques of polymerase chain reaction and restriction/fragmentation. Results: 150 patients were included, of who 75 belonged to the control group and 75 had bladder cancer, the average of age of the bladder cancer group was 60.5 +/- 11.4 and of the control group 51.3 +/- 11.4. Regarding gender, in the bladder cancer group 64 percent were males. In the control group 41percent were males. 51 percent of the patients in the bladder cancer group continued being smokers, whereas only 21 percent smoked in control group. In NAT2 enzyme genotype analysis the bladder cancer group 52 percent were slow acetilators, and 4 percent fast acetilators. In the control group 45 percent were slow acetilators and 12 percent fast acetilators. Regarding GSTT1 determination, 19 percent of the bladder cancer group and 24 percent of the control group showed the non-active genotype. GSTM1 showed its non-active form in 44 percent of the bladder cancer group and 48 percent of the control group. Discussion: Bladder cancer is clearly related with smoking habit. We observed a very significant relationship when evaluating smoking habit, slow acetilators for NAT2, and none-active genotypes of GSTM1 and bladder cancer...
Descritores: Fumar/efeitos adversos
Neoplasias da Bexiga Urinária/enzimologia
Neoplasias da Bexiga Urinária/induzido quimicamente
-Acetilação
Distribuição por Idade e Sexo
Arilamina N-Acetiltransferase/genética
Carcinógenos
Genótipo
Glutationa Transferase/genética
Neoplasias da Bexiga Urinária/epidemiologia
Neoplasias da Bexiga Urinária/genética
Medição de Risco
Limites: Humanos
Masculino
Adulto
Feminino
Pessoa de Meia-Idade
Responsável: CL10.1 - Biblioteca Biomédica


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Id: lil-747580
Autor: Arias, I; Lecompte, N; Visbal, L; Curiel, I; Hernández, E; Garavito, P; Silvera-Redondo, C.
Título: NAT2 gene polymorphisms in three indigenous groups in the Colombian Caribbean Coast region / Polimorfismo del Gen NAT2 en tres grupos indígenas de la región Caribe Colombiana
Fonte: Colomb. med;45(4):148-153, Oct.-Dec. 2014. ilus, tab.
Idioma: en.
Resumo: Objective: To study the NAT2 gene polymorphisms 481T, 590A and 857A in the Chimila, Wiwa and Wayuu indigenous groups of the Colombian Caribbean to determine the frequencies of the alleles NAT2*4, NAT2*5, NAT2*6, and NAT2*7 and to determine the types of acetylators present in these populations. Methods: A total of 202 subjects were studied: 47 Chimila, 55 Wiwa, and 100 Wayuu. The polymorphisms were identified using a real-time PCR method for allelic discrimination designed using Taqman of Applied Biosystems. Results: The following alleles were found at the highest frequency in the following groups: the NAT2*4 allele (wild type) in the Wayuu group (55.3%), the NAT2*5 allele in the Wiwa group (34.5%), and the NAT2*7 allele in the Chimila group (24.2%). A higher frequency of the rapid acetylator status was found in the Wayuu group (31.3%) and Chimila group (29.5%) compared with the Wiwa group (12.7%). The intermediate acetylator status distribution was very similar in all three groups, and the frequency of the slow acetylator status was higher in the Wiwa group (32.7%) compared with the Chimila and Wayuu groups (20.5% and 21.2%, respectively). Conclusion: The results demonstrated the allelic distribution and pharmacogenetic differences of the three groups studied and revealed the most frequent acetylator status and phenotype. Because of the high prevalence of slow acetylators, a greater incidence of tuberculosis (TB) drug-induced hepatotoxicity is predicted in these populations, with a higher frequency in the Wiwa group.

Objetivo: Estudiar los polimorfismos tipo SNP (del inglés- single nucleotide polymorphism) 481T, 590A y 857A del gen NAT2, en los grupos indígenas Chimila, Wiwa y Wayúu del Caribe Colombiano para determinar las frecuencias de los alelos NAT2*4, NAT2*5, NAT2*6 y NAT2*7 y caracterizar el tipo de acetiladores presentes en estas poblaciones. Métodos: Se estudiaron 202 individuos en total, 47 Chimila, 55 Wiwa y 100 Wayúu. Los polimorfismos se determinaron mediante la técnica de PCR en tiempo real por el método de discriminación alélica Taqman de Applied Biosystems. Resultados: El alelo NAT2*4 (wild type) mostró una mayor frecuencia en el grupo Wayúu (55.3%), el alelo NAT2*5 en el grupo Wiwa (34.5%) y el alelo NAT2*7 en el grupo Chimila (24.2%). Se encontró una mayor frecuencia del estado acetilador rápido en el grupo Wayúu (31.3%) y en el grupo Chimila (29.5%) al compararse con el grupo Wiwa (12.7%). La distribución del estado acetilador intermedio es muy similar en los tres grupos, y para el estado acetilador lento observamos que en el grupo Wiwa la frecuencia es mayor (32.7%) con respecto a Chimila y Wayúu con 20.5% y 21.2% respectivamente. Conclusiones: Los resultados permitieron conocer la distribución alélica y el componente farmacogenético de los tres grupos estudiados; igualmente, deducir el estado acetilador y/o fenotipo más frecuente. Debido a la alta prevalencia de acetiladores lentos, se podría predecir un aumento de la incidencia de hepatotóxicidad inducida por medicamentos antituberculosos como la Isoniacida indicados en estas poblaciones y en mayor frecuencia en el grupo Wiwa.
Descritores: Arilamina N-Acetiltransferase/genética
Índios Sul-Americanos/genética
Farmacogenética
Polimorfismo de Nucleotídeo Único
-Acetilação
Alelos
Colômbia
Reação em Cadeia da Polimerase em Tempo Real
Limites: Feminino
Humanos
Masculino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: CO332 - Facultad de Medicina


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Id: lil-747550
Autor: Santos, María Rita; Ramallo, Virginia; Muzzio, Marina; López Camelo, Jorge S; Bailliet, Graciela.
Título: Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina / Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina
Fonte: Rev. méd. Chile;143(4):444-450, abr. 2015. tab.
Idioma: es.
Resumo: Background: NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment. Aim: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP. Material and Methods: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT). Results: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03). Conclusions: The presence of *5 allele is significantly higher in cases with congenital NSCLP.
Descritores: Arilamina N-Acetiltransferase/genética
Fenda Labial/genética
Fissura Palatina/genética
Polimorfismo de Fragmento de Restrição/genética
-Alelos
Análise do Polimorfismo de Comprimento de Fragmentos Amplificados
Análise de Variância
Argentina
Pai
Predisposição Genética para Doença
Genótipo
Triagem de Portadores Genéticos
Desequilíbrio de Ligação
Mães
Limites: Feminino
Humanos
Masculino
Responsável: CL1.1 - Biblioteca Central


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Cabello, Pedro Hernán
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Id: lil-602055
Autor: Teixeira, Raquel Lima de Figueiredo; Morato, Renata Gomes; Cabello, Pedro Hernan; Muniz, Ligia Mayumi Kitada; Moreira, Adriana da Silva Rezende; Kritski, Afrânio Lineu; Mello, Fernanda Carvalho Queiroz; Suffys, Philip Noel; Miranda, Antonio Basilio de; Santos, Adalberto Rezende.
Título: Genetic polymorphisms of NAT2, CYP2E1 and GST enzymes and the occurrence of antituberculosis drug-induced hepatitis in Brazilian TB patients
Fonte: Mem. Inst. Oswaldo Cruz;106(6):716-724, Sept. 2011. ilus, tab.
Idioma: en.
Projeto: FAPERJ. PRONEX; . FAPERJ; . CNPq.
Resumo: Isoniazid (INH), one of the most important drugs used in antituberculosis (anti-TB) treatment, is also the major drug involved in hepatotoxicity. Differences in INH-induced toxicity have been attributed to genetic variability at several loci, such as NAT2, CYP2E1, GSTM1 and GSTT1, that code for drug-metabolising enzymes. Our goal was to examine the polymorphisms in these enzymes as susceptibility factors to anti-TB drug-induced hepatitis in Brazilian individuals. In a case-control design, 167 unrelated active tuberculosis patients from the University Hospital of the Federal University of Rio de Janeiro, Brazil, were enrolled in this study. Patients with a history of anti-TB drug-induced acute hepatitis (cases with an increase to 3 times the upper limit of normal serum transaminases and symptoms of hepatitis) and patients with no evidence of anti-TB hepatic side effects (controls) were genotyped for NAT2, CYP2E1, GSTM1 and GSTT1 polymorphisms. Slow acetylators had a higher incidence of hepatitis than intermediate/rapid acetylators [22 percent (18/82) vs. 9.8 percent (6/61), odds ratio (OR), 2.86, 95 percent confidence interval (CI), 1.06-7.68, p = 0.04). Logistic regression showed that slow acetylation status was the only independent risk factor (OR 3.59, 95 percent CI, 2.53-4.64, p = 0.02) for the occurrence of anti-TB drug-induced hepatitis during anti-TB treatment with INH-containing schemes in Brazilian individuals.
Descritores: Antituberculosos/efeitos adversos
Arilamina N-Acetiltransferase/genética
/genética
CYTOCHROME P-ALDEHYDES CYPTEMEFOSE1/genética
Doença Hepática Induzida por Substâncias e Drogas/genética
Glutationa Transferase/genética
Isoniazida/efeitos adversos
Polimorfismo Genético
-Acetilação
Brasil/etnologia
Estudos de Casos e Controles
Doença Hepática Induzida por Substâncias e Drogas/etiologia
Predisposição Genética para Doença
Genótipo
Fenótipo
Fatores de Risco
Tuberculose Pulmonar/tratamento farmacológico
Limites: Adulto
Feminino
Humanos
Masculino
Pessoa de Meia-Idade
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Texto completo SciELO Brasil
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Id: lil-383742
Autor: Mittal, Rama D; Srivastava, Daya S. L; Mandhani, Anil.
Título: NAT2 gene polymorphism in bladder cancer: a study from North India
Fonte: Int. braz. j. urol;30(4):279-288, Jul.-Aug. 2004. ilus, tab.
Idioma: en.
Resumo: PURPOSE: This study was conducted to examine: 1) whether the NAT2 genotypes are risk factors for bladder cancer, 2) to study possible association of tobacco usage with NAT2 genotype of these patients. MATERIALS AND METHODS: This case control study was undertaken over a period of 19 months and included 101 bladder cancer patients and 110 controls. The NAT2 genotypes were identified by PCR-RFLP method in peripheral blood DNA samples. Genotypes frequencies and the association of the genotypes among patients and controls group were assessed by chi2 test and Fisher exact test. RESULTS: The NAT2 fast acetylator genotype frequency of slow or fast acetylator genotypes was not significant in bladder cancer patients alone (OR = 1.18, 95 percent CI: 0.69 - 2.03, p value = 0.583) or combination with tobacco users (OR = 0.84, 95 percent CI: 0.328 - 2.125, p value = 0.813) when compared with controls. CONCLUSION: These data demonstrate that the NAT2 fast or slow acetylators genotype did not associated with the risk of developing bladder cancer in North Indian population when compared with controls.
Descritores: Arilamina N-Acetiltransferase/genética
Carcinoma de Células de Transição/genética
Polimorfismo Genético
Neoplasias da Bexiga Urinária/genética
-Alelos
Estudos de Casos e Controles
DNA de Neoplasias/sangue
DNA de Neoplasias/genética
Frequência do Gene
Genótipo
Índia
Estadiamento de Neoplasias
Reação em Cadeia da Polimerase
Polimorfismo de Fragmento de Restrição
Fatores de Risco
Fumar
Limites: Adolescente
Idoso
Humanos
Pessoa de Meia-Idade
Responsável: BR1.1 - BIREME


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Id: lil-362900
Autor: Arslan, Serdal; Degerli, Naci; Bardakci, Fevzi.
Título: Distribution of N-acetyltransferase Type 1 (NAT1) genotypes and alleles in a Turkish population
Fonte: Genet. mol. biol;27(2):162-164, Jun. 2004. tab.
Idioma: en.
Projeto: Scientific Research Fund of Cumhuriyet University.
Resumo: NAT1 is an intronless gene on chromosome 8p21.3 encoding a 290-amino-acid-long protein showing acetyltransferase activity. Some 26 alleles of NAT1 gene have been identified in human populations. In the present study we determined the distributions of NAT1 genotypes and alleles in a sample of 201 individuals from the Turkish population in Central Anatolia. The most frequent genotypes were NAT1*4/NAT1*4 (51.74 percent), NAT1*10/NAT1*4 (22.39 percent), NAT1*11/NAT1*4 (7.46), NAT1*10/NAT1*10 (3.98 percent). Frequencies of NAT1*3, *4 (wild-type), *10 and *11 alleles were 3.73 percent, 69.6 percent, 17.66 percent and 7.2 percent, respectively. The frequency of NAT1*11 was the highest amongst the populations studied so far, the other allele frequencies being close to those described in Caucasian populations.
Descritores: Arilamina N-Acetiltransferase
Genética Populacional
Polimorfismo Genético
-Idoso de 80 Anos ou mais
Epidemiologia Molecular
Reação em Cadeia da Polimerase
Polimorfismo Conformacional de Fita Simples
Turquia
Limites: Humanos
Masculino
Feminino
Adolescente
Adulto
Pessoa de Meia-Idade
Responsável: BR26.1 - Biblioteca Central


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Id: lil-293885
Autor: Anon.
Título: Síndromes dolorosos crónicos e inhibidores de recaptación de serotonina
Fonte: Terapeutica;2(1):16-7, feb. 1998.
Idioma: es.
Descritores: Arilamina N-Acetiltransferase
Inibidores de Captação de Serotonina/administração & dosagem
Inibidores de Captação de Serotonina/uso terapêutico
Transtornos Somatoformes
Limites: Humanos
Responsável: CO47.1 - Centro de Documentación


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Id: lil-80399
Autor: Pelzer, Lilian E; Guzmán, Jorge A.
Título: Pineal serotonin N - acetyltransferase and hydroxyindole - 0 - methyltransferase activities in vizcacha (Lagostomus maximus maximus) maintained under various photoperiods
Fonte: Acta physiol. pharmacol. latinoam;39(3):299-305, 1989. tab.
Idioma: en.
Resumo: Este trabajo tiene como propósito estudiar las actividades de las enzimas NAT y HIOMT en glándula pineal de vizcacha, bajo distintos regímenes de iluminación. La actividad de NAT presentó marcada variación diaria en los animales mantenidos en condiciones de LD 12:12, permaneciendo descendida durante las horas de iluminación y siendo máxima en oscuridad. En oscuridad permanente aumenta significativamente y se anulan las variaciones diarias de NAT. La actividad de HIOMT en pineal de vizcachas mantenidas en LD 12:12 no presentó ritmos diarios; en iluminación la actividad desciende, no recuperándose en la etapa de oscuridad. En el lote de oscuridad permanente se observó un marcado aumento, mientras que en iluminación permanente descendió a 1/7 de los valores encontrados en oscuridad. En iluminación natural día-noche la HIOMT recuperó su actividad en las horas de oscuridad. Concluimos que en este roedor la actividad de las enzimas estudiadas es afectada por la luz, siendo la HIOMT la más sensible
Descritores: Acetilserotonina O-Metiltransferasa/metabolismo
Arilamina N-Acetiltransferase/metabolismo
Relâmpago
Glândula Pineal/enzimologia
-Escuridão
Roedores/fisiologia
Limites: Animais
Masculino
Feminino
Responsável: BR1.1 - BIREME



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