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Plasma Kallikrein and Angiotensin I-converting enzyme N- and C-terminal domain activities are modulated by the insertion/deletion polymorphism

ALMEIDA, S. S.; BARROS, C. C.; MORAES, M. R.; RUSSO, F. J.; HARO, A. S.; ROSA, T. S.; ALVES, M. F.; PESQUERO, J. B.; CARMONA, A. K.; BACURAU, R. F. P.; ARAUJO, R. C.
Fonte: CHURCHILL LIVINGSTONE Publicador: CHURCHILL LIVINGSTONE
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
36.6%
Angiotensin I-converting enzyme (ACE) is recognized as one of the main effector molecules involved in blood pressure regulation. In the last few years some polymorphisms of ACE such as the insertion/deletion (I/D) polymorphism have been described, but their physiologic relevance is poorly understood. In addition, few studies investigated if the specific activity of ACE domain is related to the I/D polymorphism and if it can affect other systems. The aim of this study was to establish a biochemical and functional characterization of the I/D polymorphism and correlate this with the corresponding ACE activity. For this purpose, 119 male brazilian army recruits were genotyped and their ACE plasma activities evaluated from the C- and N-terminal catalytic domains using fluorescence resonance energy transfer (FRET) peptides, specific for the C-domain (Abz-LFK(Dnp)OH), N-domain (Abz-SDK(Dnp)P-OH) and both C- and N-domains (Abz-FRK(Dnp)P-OH). Plasma kallikrein activity was measured using Z-Phe-Arg-AMC as substrate and inhibited by selective plasma kallikrein inhibitor (PKSI). Some physiological parameters previously described related to the I/D polymorphism such as handgrip strength, blood pressure, heart rate and BMI were also evaluated. The genotype distribution was II n = 27...

Association of the MCP-1-2518 A/G Polymorphism and No Association of Its Receptor CCR2-64 V/I Polymorphism with Lupus Nephritis

MALAFRONTE, Patricia; VIEIRA JR., Jose Mauro; PEREIRA, Alexandre Carlos; KRIEGER, Jose Eduardo; BARROS, Rui Toledo; WORONIK, Viktoria
Fonte: J RHEUMATOL PUBL CO Publicador: J RHEUMATOL PUBL CO
Tipo: Artigo de Revista Científica
ENG
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36.54%
Objective. To evaluate whether the A/G polymorphism at position 2518 in the regulatory region of the monocyte chemoattractant protein-1 (MCP-1) or the V/I polymorphism at position 64 of the receptor. CCR2, are associated with lupus nephritis (LN) or any clinical characteristics of the disease or with renal survival in a patient population. Methods. We selected 197 patients with lupus nephritis and 220 matched healthy controls for study. MCP-1 and CCR2 genotyping was performed by polymerase chain reaction. Clinical and laboratory data were compiled from patients` charts over followup that ranged from 6 months to 10 years. Results. The GIG genotype of MCP-1 was more common in LN patients (p = 0.019), while the A allele was associated with healthy controls (p = 0.007) as was the V allele of CCR2 (p = 0.046) compared to LN patients. Clinical index measures [SLE Disease Activity Index (SLEDAI)], immunological markers, renal histology, renal function at enrollment, and renal survival were not influenced by these polymorphisms. A less aggressive renal disease, measured by renal SLEDAI index, was associated with the V allele of the CCR2 gene polymorphism. Conclusion. These findings support that MCP-1 2518 GIG is associated with LN but there was no association of this genotype with renal function or renal survival. When studying CCR2 64 V/I polymorphism we showed a positive association of the V allele with healthy controls but no association of the genotype with LN patients. (First Release March 152010; J Rheumatol 2010;37:776-82; doi:10.3899/jrheum.090681); Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)

Reciprocal interactions of obstructive sleep apnea and hypertension associated with ACE I/D polymorphism in males

KOYAMA, Renata G.; DRAGER, Luciano F.; LORENZI-FILHO, Geraldo; CINTRA, Fatima D.; PEREIRA, Alexandre C.; POYARES, Dalva; KRIEGER, Jose Eduardo; CASTRO, Rosa M. R. P. S.; TUFIK, Sergio; MELLO, Marco Tulio de; PEDRAZZOLI, Mario
Fonte: ELSEVIER SCIENCE BV Publicador: ELSEVIER SCIENCE BV
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
36.54%
Background: The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism gene contributes to the genesis of hypertension (HTN) and may help explain the relationship between obstructive sleep apnea (OSA) and HTN. However, ACE is a pleiotropic gene that has several influences, including skeletal muscle and control of ventilation. We therefore tested the hypothesis that ACE polymorphism influences OSA severity. Methods: Male OSA patients (apnea-hypopnea index [AHI] > 5 events/h) from 2 university sleep centers were evaluated by polysomnography and ACE I/D polymorphism genotyping. Results: We studied 266 males with OSA (age = 48 +/- 13y, body mass index = 29 5kg/m(2), AHI = 34 +/- 25events/h). HTN was present in 114 patients (43%) who were older (p < 0.01), heavier (p < 0.05) and had more severe OSA (p < 0.01). The I allele was associated with HTN in patients with mild to moderate OSA (p < 0.01), but not in those with severe OSA. ACE I/D polymorphism was not associated with apnea severity among normotensive patients. In contrast. the only variables independently associated with OSA severity among patients with hypertension in multivariate analysis were BMI (OR = 1.12) and 11 genotype (OR = 0.27). Conclusions: Our results indicate reciprocal interactions between OSA and HTN with ACE I/D polymorphism...

Expression of TLR-4 and -2 in peripheral mononuclear cells in renal transplant patients with TLR-4 gene polymorphism

NOGUEIRA, Eliana; SALOMAO, Reinaldo; BRUNIALTI, Milena Karina Collo; OZAKI, Kikumi S.; MARQUES, Georgia D. M.; CENEDEZE, Marcos A.; CAMARA, Niels Olsen Saraiva; PACHECO-SILVA, Alvaro
Fonte: ELSEVIER SCIENCE BV Publicador: ELSEVIER SCIENCE BV
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
36.62%
Introduction: TLR-4 has also been identified as a receptor for endogenous alarmins, which are increased post transplantation. TLR-4 has also been associated with a polymorphism that could impact graft outcome. Objective: To assess the expression of TLR-4 in kidney transplant patients carrying or not a polymorphism. Methods: TLR-4 polymorphism (A299G/T399I) was studied in 200 renal transplant patients. Healthy volunteers were also enrolled as control group. The polymorphism analysis was performed using restriction enzymes technique (RFLP). Functionality of TLR-4 polymorphism was assessed in samples from controls by quantification of TNF-alpha after LPS stimulus. TLR-4 and -2 expressions were also analyzed by flow cytometry. Results: TLR-4 polymorphism was present in 8.5% of renal transplant patients. This polymorphism was associated with impairment in TNF-alpha secretion. In general, in renal transplant patients, TLR-4 expression in monocytes and in neutrophils was lower than in health volunteers. TLR-2 and TLR-4 expressions in healthy volunteers with A299G/T399I TLR-4 polymorphism was higher than in wild-type genotype healthy volunteers (p<0.01 and p<0.05, respectively), and also higher than A299G/T399I TLR-4 polymorphism renal transplant patients (p<0.05). TLR-2 expression on neutrophils in wild-type genotype renal transplant patients was higher compared to wild-type genotype healthy volunteers...

Correlação entre polimorfismo e atividade da enzima conversora da angiotensina com o grau de hipertrofia miocárdica nas formas familiar e não familiar em pacientes com cardiomiopatia hipertrófica; Correlation between polymorphism and activity of the angiotensin converting enzyme with the degree of myocardium hypertrophy in the familial and nonfamilial forms of the hypertrophic cardiomyopathy

Buck, Paula de Cássia
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 23/02/2007 PT
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36.54%
FUNDAMENTOS: O polimorfismo e a atividade da enzima conversora da angiotensina (ECA) contribuem, de forma significante, na expressão fenotípica e no prognóstico de pacientes com cardiomiopatia. OBJETIVOS: Determinar o polimorfismo da ECA, realizar a sua dosagem sérica e correlacioná-los com o grau de hipertrofia miocárdica e o índice de massa do ventrículo esquerdo em pacientes com cardiomiopatia hipertrófica (CMH) nas formas familiar e não familiar. CASUÍSTICA E MÉTODO: Foram estudados 136 pacientes consecutivos com CMH (69 da forma familiar e 67 da forma não familiar) com média de idade de 40,53±17,45 anos, sendo 76 do sexo masculino. Os indivíduos foram submetidos ao ecocardiograma para obtenção das medidas do septo interventricular, parede posterior e massa do ventrículo esquerdo e coleta de sangue para determinação do polimorfismo e dosagem sérica da atividade da ECA. RESULTADOS: Quanto ao genótipo do polimorfismo do gene da ECA, encontramos DD 47(35%), ID 71(52%) e II 18 (13%), sendo que do genótipo DD 34% na forma familiar e 36% na forma não familiar. A média da atividade da ECA foi de 56.414±19.236 para os pacientes com CMH na forma familiar e de 55.085±22.634 para a forma não familiar (p = 0,714). A média do índice de massa do ventrículo esquerdo na forma familiar foi 154±63 g/m2 e na forma não familiar foi 174±57 g/m2 (p = 0...

Polimorfismo PRO198LEU no gene para a enzima antioxidante dependente de selênio glutationa peroxidase 1 e risco de câncer epidermóide da cavidade oral e orofaringe; PRO198LEU polymorphism in the gene for the selenium-dependent antioxidant enzyme glutathione peroxidase 1 and risk of oral cavity and oropharyngeal squamous cell cancer

Nishimura, Luciana Sigueta
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 09/09/2010 PT
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36.59%
O selênio é um micronutriente essencial que apresenta ação antioxidante por meio de selenoproteínas, como a glutationa peroxidase 1 (GPX1). O polimorfismo PRO198LEU no gene em questão tem sido relacionado ao aumento do risco para alguns tipos de câncer, como o de mama e pulmão. Atualmente, o câncer de cabeça e pescoço é um importante problema de saúde pública no mundo e, inclusive, no Brasil. O objetivo do presente estudo foi avaliar eventual associação entre o polimorfismo GPX1 PRO198LEU e risco de câncer epidermóide da cavidade oral e orofaringe, bem como possível interação com utilização de tabaco e ingestão de álcool. O genótipo para o polimorfismo GPX1 PRO198LEU foi determinado pela técnica de PCR-RFLP (Reação em cadeia da polimerase - Polimorfismo no comprimento do fragmento de restrição) e seqüenciamento do DNA em 175 pacientes com câncer epidermóide da cavidade oral e orofaringe (grupo caso) integrantes de parte da casuística do Projeto Genoma Clínico do Câncer de Cabeça e Pescoço, e em 203 indivíduos sem a doença, internados nas enfermarias do Hospital Heliópolis (grupo controle). A freqüência do alelo de referência e do polimórfico foi de 0,72 e 0,28, respectivamente, em ambos os grupos. A freqüência dos genótipos encontrou-se em equilíbrio de Hardy-Weinberg nos grupos caso e controle. Não houve diferença estatisticamente significante (p>0...

Polimorfismo dos genes CD14, TLR2, TLR4, IL6 e sua associação com o infarto do miocárdio em adultos jovens; Polymorphism of the gene CD14, TLR2, TLR4, IL6 and your association with myocardial infarction in young adults

Lima Neto, Lídio Gonçalves
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 20/12/2007 PT
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36.54%
O objetivo deste estudo foi avaliar a possível associação entre os polimorfismos -260C/T do gene CD14, Arg753Gln do gene TLR2, Asp299Gli e Thr39911e do gene TLR4 e -174G/C do gene IL6 com o infarto do miocárdio em adultos jovens. Para isso, foi realizado um estudo caso controle, sendo o grupo de estudo constituído por 102 pacientes que tiveram de infarto do miocárdio (34,5 ± 5 anos) e o grupo controle (35,1±8,7 anos) por 108 indivíduos sem histórico de doenças cardiovasculares. A genotipagem foi realizada pela PCRRFLP. Houve ausência de associação entre a distribuição dos genótipos dos SNPs -260C/T do gene CD14, Arg753Gln do gene TLR2, Asp299Gli e Thr39911e do gene TLR4 e -174G/C do gene IL6 entre os dois grupos estudados (p<0,05). O perfil sérico inflamatório e hematológico relacionou-se com polimorfismo -174G/C IL-6 do grupo IAM. O genótipo GG relacionou com elevação nas concentrações de PAI-1 (p<0,0001), o genótipo GC com maiores quantidades de hemácias (p=0,02) e o genótipo CC com concentrações elevadas de fibrinogênio (p<0,01) e quantidade aumentada de leucócitos (p<0,05). O genótipo CC do polimorfismo -260C/T CD14 também mostrou relação com a elevação nas concentrações de PAI-1 (0,0001) e o genótipo CT com o de fibrinogênio (p<0...

Angiotensin converting enzyme polymorphism in type 2 diabetes mellitus

Bonini-Domingos, Ana Carolina; Bonini-Domingos, Claudia Regina; Lacida, Edi Carlos; Mattos, Cinara de Cássia Brandão de; Mattos, Luiz Carlos de
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 99-104
ENG
Relevância na Pesquisa
36.54%
This study was undertaken to assess the frequency of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism in patients with type 2 diabetes mellitus. A total of 162 patients with type 2 diabetes and 160 individuals without this disease were analyzed. From the diabetes group, 81 patients with cardiovascular risk (according to American Diabetes Association parameters) were selected to form another subgroup. For polymorphism identification, two polymerase chain reactions were performed: one reaction to identify all genotypes and a second one to confirm the presence of the I allele. The observed genotype frequencies were as follows: diabetes group I/I (19.1%), I/D (52.5%), D/D (28.4%); control group I/I (12.5%), I/D (55.6%), D/D (31.9%); and diabetes with cardiovascular risk group I/I (16.0%), I/ D (59.3%), D/D (24.7%). No statistically significant difference was observed between the allelic and genotypic frequencies in the analyzed groups. Previous studies reported an association between the D allele and type 2 diabetes in Caucasian and East Asian populations. However, in mixed populations, such as those found in Brazil, such an association was not found. This fact does not discard the need for more studies on the frequencies of this polymorphism in the Brazilian population and the associations with risk factors...

Polimorfismo CYP3A4-290A>G relacionado ao metabolismo do mesilato de imatinibe, no prognóstico de pacientes com leucemia mielóide crônica; CYP3A4-A-290G polymorphism, enrolled in metabolism of imatinib mesylate, in prognosis of chronic myelogenous leukemia patients

Iramaia Angelica Neri Numa
Fonte: Biblioteca Digital da Unicamp Publicador: Biblioteca Digital da Unicamp
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 19/12/2012 PT
Relevância na Pesquisa
36.54%
O mesilato de imatinibe (MI) é o tratamento de escolha para pacientes com leucemia mielóide crônica (LMC) em fase crônica, mas a resposta ao medicamento é variável em indivíduos distintos. A CYP3A4 é a principal enzima responsável pelo metabolismo hepático do MI. O alelo variante G do polimorfismo CYP3A4 A-290G codifica menor quantidade de enzima do que o alelo selvagem A, mas o papel do referido polimorfismo em pacientes com LMC tratados com MI é desconhecido. Os objetivos deste trabalho foram os de avaliar a eficácia, a toxicidade a sobrevida livre de progressão (SLP) e global (SG) de pacientes com LMC durante a administração de MI e verificar se estes parâmetros são alterados pela variabilidade interindividual no metabolismo do fármaco, relacionada ao polimorfismo CYP3A4 A-290G. Foram avaliados 100 pacientes com LMC em FC precoce atendidos no Centro de Hematologia e Hemoterapia da UNICAMP. O diagnóstico da LMC, o exame hematológico, o cariótipo, a pesquisa do gene BCR-ABL e os genótipos do polimorfismo CYP3A4 A-290G foram realizados por métodos convencionais. Os pacientes receberam o MI na dose de 400mg e a resposta ao tratamento foi avaliada segundo os critérios do European Leukemia Net. Identificamos respostas hematológicas...

The polymorphism of the serotonin-2A receptor T102C is associated with age

Jobim,P.F.C.; Prado-Lima,P.A.S.; Schwanke,C.H.A.; Giugliani,R.; Cruz,I.B.M.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/11/2008 EN
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36.54%
Epidemiological investigations suggest that T102C polymorphism of gene 5-HT2A may be associated with mean life span because diseases and behaviors related to this polymorphism, such as schizophrenia, suicide, aggression, and addiction, may potentially shorten mean life span. A sample of 687 individuals without previous neuropsychiatric disease was genotyped and separated into 3 groups according to their gender and age: 14-45 years old, 46-64 years old and 65-100 years old. Molecular genotyping was performed using the technique of polymerase chain reaction followed by restriction fragment length polymorphism using HpaII restriction enzyme. 5-HT2A genotype frequencies were: TT = 21.5% (148), CC = 16.6% (114) and TC = 61.9% (425) and allele frequencies were T = 52.5% and C = 46.5%. Significant differences were found between mean age of the TT genotype carriers (60.27 ± 12.60 years) and TC genotype carriers (56.80 ± 13.18 years) of T102C polymorphism of gene 5-HT2A (P = 0.026) as well as the age groups (P = 0.012). Carriers of genotype TT were older than the other two genotypes, whereas carriers of genotype CC had an intermediate age compared with TT and CC subjects. The present results demonstrate an association between T102C polymorphism of gene 5-HT2A and age. Our results suggest that T102C polymorphism of gene 5-HT2A is associated with mean life span...

5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer

Galbiatti,A.L.S.; Ruiz,M.T.; Biselli-Chicote,P.M.; Raposo,L.S.; Maniglia,J.V.; Pavarino-Bertelli,E.C.; Goloni-Bertollo,E.M.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/05/2010 EN
Relevância na Pesquisa
36.57%
The functional effect of the A>G transition at position 2756 on the MTR gene (5-methyltetrahydrofolate-homocysteine methyltransferase), involved in folate metabolism, may be a risk factor for head and neck squamous cell carcinoma (HNSCC). The frequency of MTR A2756G (rs1805087) polymorphism was compared between HNSCC patients and individuals without history of neoplasias. The association of this polymorphism with clinical histopathological parameters was evaluated. A total of 705 individuals were included in the study. The polymerase chain reaction-restriction fragment length polymorphism technique was used to genotype the polymorphism. For statistical analysis, the chi-square test (univariate analysis) was used for comparisons between groups and multiple logistic regression (multivariate analysis) was used for interactions between the polymorphism and risk factors and clinical histopathological parameters. Using univariate analysis, the results did not show significant differences in allelic or genotypic distributions. Multivariable analysis showed that tobacco and alcohol consumption (P < 0.05), AG genotype (P = 0.019) and G allele (P = 0.028) may be predictors of the disease and a higher frequency of the G polymorphic allele was detected in men with HNSCC compared to male controls (P = 0.008). The analysis of polymorphism regarding clinical histopathological parameters did not show any association with the primary site...

Effects of 174 G/C polymorphism in the promoter region of the interleukin-6 gene on plasma IL-6 levels and muscle strength in elderly women

Pereira,D.S.; Garcia,D.M.; Narciso,F.M.S.; Santos,M.L.A.S.; Dias,J.M.D.; Queiroz,B.Z.; Souza,E.R.; Nóbrega,O.T.; Pereira,L.S.M.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/02/2011 EN
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36.57%
We investigated the effect of -174 G/C single-nucleotide polymorphism in the promoter region of the IL6 gene on plasma IL-6 levels and muscle strength, and the relationship between IL-6 levels and muscle strength in elderly women. The sample consisted of 199 elderly residents (73.0 ± 7.8 years old) from rest homes and the community in Belo Horizonte, MG, Brazil. -174 G/C polymorphism was determined by direct sequencing of the product by PCR, and plasma IL-6 concentrations were measured by ELISA. Muscle strength in the knee joint was evaluated using a Biodex System 3 Pro® isokinetic dynamometer. ANCOVA was used to determine the effect of polymorphism on IL-6 levels and muscle strength, and the Pearson correlation coefficient to assess the relationship between IL-6 levels and muscle strength. -174 G/C polymorphism was associated with the plasma IL-6 levels of elderly women (P < 0.01) since homozygotes for the G allele showed high IL-6 levels (GG 3.85 pg/mL, GC + CC 2.13 pg/mL). There was no association of polymorphism on muscle strength (P > 0.05). No association was found between IL-6 levels and knee extensor muscle (r = 0.087, P = 0.306) or flexor (r = -0.011, P = 0.894) strength. An interaction between -174 G/C polymorphism and housing conditions of the sample of elderly women was identified...

Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

Noronha,Thiago Rodrigo de; Rohr,Sandra Serson; Chauffaille,Maria de Lourdes Lopes Ferrari
Fonte: Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular Publicador: Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/02/2015 EN
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36.54%
Objective: To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differ- ences between the results of this method and karyotyping. Methods: Twenty-two patients diagnosed with acute myeloid leukemia and three with myelodysplastic syndromes were studied. The G-banding karyotyping and single nucleotide polymorphism array analysis (CytoScan(r) HD) were performed using cells from bone marrow, DNA extracted from mononuclear cells from bone marrow and buccal cells (BC). Results: The mean age of the patients studied was 54 years old, and the median age was 55 years (range: 28-93). Twelve (48%) were male and 13 (52%) female. Ten patients showed abnormal karyotypes (40.0%), 11 normal (44.0%) and four had no mitosis (16.0%). Regarding the results of bone marrow single nucleotide polymorphism array analysis: 17 were abnor- mal (68.0%) and eight were normal (32.0%). Comparing the two methods, karyotyping identified a total of 17 alterations (8 deletions/losses, 7 trissomies/gains, and 2 translocations) and single nucleotide polymorphism array analysis identified a total of 42 alterations (17 losses, 16 gains and 9 copy-neutral loss of heterozygosity). Conclusion: It is possible to standardize single nucleotide polymorphism array analysis in acute myeloid leukemia/myelodysplastic syndromes and compare the results with the abnormalities detected by karyotyping. Single nucleotide polymorphism array analysis increased the detection rate of abnormalities compared to karyotyping and also identified a new set of abnormalities that deserve further investigation in future studies.

Analysis of the association between lactotransferrin (LTF) gene polymorphism and dental caries

Azevedo,Luiza Foltran; Pecharki,Giovana Daniela; Brancher,João Armando; Cordeiro Junior,Carlos Alberto; Medeiros,Kamilla Gabriella dos Santos; Antunes,Alessandra Armstrong; Arruda,Eduardo Silva; Werneck,Renata Iani; Azevedo,Luciana Reis de; Mazur,Rui Fer
Fonte: Faculdade De Odontologia De Bauru - USP Publicador: Faculdade De Odontologia De Bauru - USP
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/04/2010 EN
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36.54%
OBJECTIVE: The present study evaluated the association between lactotransferrin (LTF) gene polymorphism (exon 2, A/G, Lys/Arg) and dental caries. MATERIAL AND METHODS: A convenience sample of 110 individuals, 12 years old, was divided into: group 1, 48 individuals without caries experience (DMFT=0), and group 2, 62 subjects with caries experience (DMFT>1). DNA was obtained from a mouthwash with 3% glucose solution, followed by a scrapping of the oral mucosa. After DNA purification, polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) was performed to access the study polymorphism. The LTF A/G (Lys/Arg) polymorphism had been previously reported as located in exon 1. RESULTS: Allele 1 of the study polymorphism was associated with low DMFT index and showed a protective effect against caries experience (OR=0.16, IC=0.03-0.76, p=0.01). CONCLUSIONS: Lactotransferrin A/G (exon 2, Lys/Arg) polymorphism was associated with susceptibility to dental caries in 12-year-old students.

A novel polymorphism in a forkhead box A1 (FOXA1) binding site of the human UDP glucuronosyltransferase 2B17 gene modulates promoter activity and is associated with altered levels of circulating androstane-3α,17β-diol glucuronide; A novel polymorphism in a forkhead box A1 (FOXA1) binding site of the human UDP glucuronosyltransferase 2B17 gene modulates promoter activity and is associated with altered levels of circulating androstane-3alpha,17beta-diol glucuronide

Hu, D.; Gardner-Stephen, D.; Severi, G.; Gregory, P.; Treloar, J.; Giles, G.; English, D.; Hopper, J.; Tilley, W.; MacKenzie, P.
Fonte: Amer Soc Pharmacology Experimental Therapeutics Publicador: Amer Soc Pharmacology Experimental Therapeutics
Tipo: Artigo de Revista Científica
Publicado em //2010 EN
Relevância na Pesquisa
36.54%
UDP glucuronosyltransferase 2B17 is present in the prostate, where it catalyzes the addition of glucuronic acid to testosterone and dihydrotestosterone and their metabolites androsterone and androstane-3α,17β-diol. Hence, changes in UGT2B17 gene expression may affect the capacity of the prostate to inactivate and eliminate male sex hormones. In this work, we identify a prevalent polymorphism, -155G/A, in the proximal promoter of the UGT2B17 gene. This polymorphism modulates UGT2B17 promoter activity, because luciferase-gene reporter constructs containing the -155A allele were 13-fold more active than those containing the -155G allele in prostate cancer LNCaP cells. The -155G/A polymorphism is contained within a putative binding site for the transcription factor Forkhead Box A1 (FOXA1). Using gene reporter, electromobility shift, and chromatin immunoprecipitation analyses, we show that FOXA1 binds to this site and stimulates the UGT2B17 promoter. Furthermore, down-regulation of FOXA1 in LNCaP cells substantially reduces UGT2B17 mRNA levels. The binding of FOXA1 and subsequent stimulation of the UGT2B17 promoter is greatly reduced in the presence of the -155G allele compared with the -155A allele. Consonant with its capacity to be stimulated by FOXA1...

High resolution melting as an alternative method to genotype diacylglycerol O-acyltransferase 1 (DGAT1) K232A polymorphism in cattle

Abdolmohammadi, A.; Atashi, H.; Zamani, P.; Bottema, C.
Fonte: Inst Agricultural Food Information Publicador: Inst Agricultural Food Information
Tipo: Artigo de Revista Científica
Publicado em //2011 EN
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PCR-RFLP analysis is a common method for genotyping the DGAT1 K232A polymorphism in cattle. Our purpose was to develop a high resolution melting (HRM) assay in order to genotype the polymorphic alleles. Firstly, the PCR-RFLP method was used and the 411 bp products including the DGAT1 polymorphism were digested by CfrI enzyme. Direct sequencing was performed to confirm genotypes of the K232A polymorphism for 30 samples that presented different PCR-RFLP patterns. It was determined according to sequencing results that partial enzyme digestion had occurred for some samples. A 130 bp fragment including the polymorphism was amplified for real time PCR. Then, the HRM analysis was carried out using two fluorescent dyes, SYBR Green I and EvaGreenTM. Although the HRM genotyping using SYBR Green I was contradicted by the sequencing results, three correct melting curves were obtained for the K232A polymorphism when EvaGreenTM was used. There were no false genotypes and all genotypes were in agreement with their sequencing results. The difference in the Tm between the two homozygous groups was about 0.5°C and the AA genotypes showed a higher Tm than the KK genotypes. The heterozygous genotypes showed a different pattern. Similar results were obtained from different concentrations of EvaGreenTM in the reactions. All 206 DNA samples were genotyped using this fluorescent dye with estimated allele frequencies of 0.66 and 0.34 for the A and K alleles...

Association between methylenetetrahydrofolate reductase C677T polymorphism and epilepsy susceptibility: A meta-analysis

Wu, Y.L.; Yang, H.Y.; Ding, X.X.; Zhao, X.; Chen, J.; Bi, P.; Sun, Y.H.
Fonte: Elsevier Publicador: Elsevier
Tipo: Artigo de Revista Científica
Publicado em //2014 EN
Relevância na Pesquisa
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PURPOSE: Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been implicated as a potential risk factor for epilepsy. To date, many case-control studies have investigated the association between MTHFR C677T polymorphism and epilepsy susceptibility. However, those findings were inconsistent. The objective of this study is to evaluate the precise association between MTHFR C677T polymorphism and epilepsy. METHODS: An electronic search of PubMed, EMBASE for papers on the MTHFR C677T polymorphism and epilepsy susceptibility was performed. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the association. RESULTS: Ten case-control studies containing 1713 cases and 1867 controls regarding MTHFR C677T polymorphism were selected. A significant association between the MTHFR C677T polymorphism and epilepsy susceptibility was revealed in this meta-analysis (for T vs. C: OR=1.19, 95% CI=1.08-1.32; for TT+CT vs. CC: OR=1.20, 95% CI=1.05-1.38; for TT vs. CC: OR=1.48, 95% CI=1.20-1.83; for TT vs. CT+CC: OR=1.35, 95% CI=1.12-1.64). In subgroup analysis by ethnicity, the results also indicated the association between the MTHFR C677T polymorphism and epilepsy susceptibility within the Asian populations (for T vs. C: OR=1.55...

TP53 codon 72 polymorphism as a risk factor for cardiovascular disease in a Brazilian population

Smith,M.A.C.; Silva,M.D.A.; Cendoroglo,M.S.; Ramos,L.R.; Araujo,L.M.Q.; Labio,R.W.; Burbano,R.R.; Chen,E.S.; Payão,S.L.M.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/11/2007 EN
Relevância na Pesquisa
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TP53, a tumor suppressor gene, has a critical role in cell cycle, apoptosis and cell senescence and participates in many crucial physiological and pathological processes. Identification of TP53 polymorphism in older people and age-related diseases may provide an understanding of its physiology and pathophysiological role as well as risk factors for complex diseases. TP53 codon 72 (TP53:72) polymorphism was investigated in 383 individuals aged 66 to 97 years in a cohort from a Brazilian Elderly Longitudinal Study. We investigated allele frequency, genotype distribution and allele association with morbidities such as cardiovascular disease, type II diabetes, obesity, neoplasia, low cognitive level (dementia), and depression. We also determined the association of this polymorphism with serum lipid fractions and urea, creatinine, albumin, fasting glucose, and glycated hemoglobin levels. DNA was isolated from blood cells, amplified by PCR using sense 5'-TTGCCGTCCCAAGCAATGGATGA-3' and antisense 5'-TCTGGGAAGGGACAGAAGATGAC-3' primers and digested with the BstUI enzyme. This polymorphism is within exon 4 at nucleotide residue 347. Descriptive statistics, logistic regression analysis and Student t-test using the multiple comparison test were used. Allele frequencies...

Identification of a new human mtDNA polymorphism (A14290G) in the NADH dehydrogenase subunit 6 gene

Houshmand,M.; Mahmoudi,T.; Shafa Shariat Panahi,M.; Seyedena,Y.; Saber,S.; Ataei,M.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2006 EN
Relevância na Pesquisa
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Leber's hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. Several mutations in different genes can cause LHON (heterogeneity). The ND6 gene is one of the mitochondrial genes that encodes subunit 6 of complex I of the respiratory chain. This gene is a hot spot gene. Fourteen Persian LHON patients were analyzed with single-strand conformational polymorphism and DNA sequencing techniques. None of these patients had four primary mutations, G3460A, G11788A, T14484C, and G14459A, related to this disease. We identified twelve nucleotide substitutions, G13702C, T13879C, T14110C, C14167T, G14199T, A14233G, G14272C, A14290G, G14365C, G14368C, T14766C, and T14798C. Eleven of twelve nucleotide substitutions had already been reported as polymorphism. One of the nucleotide substitutions (A14290G) has not been reported. The A14290G nucleotide substitution does not change its amino acid (glutamic acid). We looked for base conservation using DNA star software (MEGALIGN program) as a criterion for pathogenic or nonpathogenic nucleotide substitution in A14290G. The results of ND6 gene alignment in humans and in other species (mouse, cow, elegans worm, and Neurospora crassa mold) revealed that the 14290th base was not conserved. Fifty normal controls were also investigated for this polymorphism in the Iranian population and two had A14290G polymorphism (4%). This study provides evidence that the mtDNA A14290G allele is a new nonpathogenic polymorphism. We suggest follow-up studies regarding this polymorphism in different populations.

Association of uricemia with biochemical and dietary factors in human adults with metabolic syndrome genotyped to C677T polymorphism in the methylenetetrahydrofolate reductase gene

Kimi Uehara,S.; Rosa,G.
Fonte: Nutrición Hospitalaria Publicador: Nutrición Hospitalaria
Tipo: info:eu-repo/semantics/article; journal article; info:eu-repo/semantics/publishedVersion Formato: text/html; application/pdf
Publicado em 01/04/2011 ENG
Relevância na Pesquisa
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It is suggested that hyperuricemia is a marker of cardiovascular risk in human adults with metabolic syndrome (MS). The C677T polymorphism in the gene encoding the enzyme methylenetetrahydrofolate reductase (MTHFR) is associated with hyperuricemia. Data on factors associated with uricemia in human adults with MS genotyped for this polymorphism are lacking. We aimed to investigate the factors associated with uricemia in human adults with MS genotyped for the C677T polymorphism in the MTHFR gene. Cross-sectional study was conducted with 63 human adults (24 men and 39 women) with MS. Body weight, body mass index, waist circumference, body fat, glycemia, lipid profile, uricemia, insulinemia, homocysteinemia, plasma folate, erythrocyte folate, blood pressure, smoking, diuretics use, usual dietary alcohol and protein intakes, MTHFR and the presence of the C677T polymorphism in the gene were assessed. Hyperuricemia was observed in 16 (25.4%) human adults (10 men and 6 women). In the group, 33% (n = 21) showed the C677T polymorphism, being 19 heterozygous and 2 mutant homozygous. A significant association between hyperuricemia and C677T polymorphism was not verified. Uricemia was positively associated with homocys-teinemia (r = 0.43, p < 0.05)...