ABSTRACT
Objective This study aimed to get the genotypic and allelic frequencies of rs1801282 in 179 volunteer donors and 154 patients with Metabolic syndrome (MetS) in Brasilia, Brazil and also examine the association with anthropometric, biochemical and hemodynamic variables in the latter group. MetS comprises a group of diseases resulting from insulin resistance, in-creased risk of type 2 diabetes and atherosclerotic cardiovascular disease. MetS is defined by the presence of increased visceral fat, atherogenic dyslipidemia (elevated triglycerides (TGL)), with decreased high density lipoprotein (HDL) and increased low density lipoprotein (LDL) levels, hypertension (BPH) and disturbances in glucose homeostasis representing a significant burden across the world due to the alarming increase in the incidence over the last decades besides their significant morbidity and mortality. Peroxisome proliferator activated receptor-gamma (PPARg) has been mentioned as a candidate gene for determining the risk of MetS. It is a member of the nuclear receptors superfamily and a ligand-activated transcription factor, which regulates the expression of genes involved in the network lipogenesis and adipogenesis, insulin sensitivity, energy balance, inflammation, angiogenesis and atherosclerosis. Among the PPARG genetic variants, single nucleotide polymorphism rs1801282 has been the most extensively studied one since it was first described by Yen and cols. in 1997. This polymorphism is characterized by the replacement of a proline (CCC) to an alanine (GCA) at codon 12 of exon B, due to the exchange of a cytosine with a guanine. The Ala allele frequency varies in different ethnic groups.Materials and methods DNA was extracted using Chelex-100 method and determinations of genotypes were performed by allele-specific chain reaction.Results The distribution of genotype frequency of the MetS group was not statistically different from the frequency in the donor population at large. In the first group, genotype frequency was CC to 0.869 and 0.103 for CG, while allelic frequencies were 0.948 for C and 0.052 for G allele. In the group of donors, the genotype and allele frequencies were 0.882 for CC, 0.117 to CG; and 0.941 to 0.059 for G and C, respectively. GG genotype was not found in any of the two groups. The genotype distribution and allele frequencies were in Hardy-Weinberg equilibrium. No marker could be detected from the analysis of anthropometric, biochemical and hemodynamic variables in the MetS group.Conclusion Our data suggest that this polymorphism is not correlated with predisposition to MetS. The results obtained on a small sample of the population of Brasilia, corroborate the data reported in the literature on the prevalence of this polymorphism in PPAR in populations of different ethnic origins.
Subject(s)
Humans , Male , Female , Middle Aged , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide/genetics , Metabolic Syndrome/genetics , PPAR gamma/genetics , Prevalence , Gene Frequency , GenotypeABSTRACT
OBJECTIVE:To investigate the association of the T allele of the single nucleotide polymorphism (SNP) rs7903146 of TCF7L2 with the occurrence of T2D in a sample of subjects followed up at the Brasilia University Hospital. SUBJECTS AND METHODS: The SNP rs7903146 of TCF7L2 was genotyped by allele-specific PCR in 113 patients with known T2D and in 139 non-diabetic controls in Brasilia, Brazil. RESULTS:We found that the T allele of the SNP rs7903146 of TCF7L2 was significantly associated with T2D risk (odds ratio of 3.92 for genotype TT in the recessive genetic model, p = 0.004 and 1.5 for T allele, p = 0.032). CONCLUSION:These results reinforce previous findings on the consistent association of this genetic factor and the risk of T2D in populations of diverse ethnic backgrounds. Arq Bras Endocrinol Metab. 2012;56(8):479-84.
OBJETIVO: Investigar a associação do alelo T do polimorfismo de nucleotídeo único (SNP) rs7903146 do TCF7L2 com a ocorrência de DM2 em uma amostra de indivíduos acompanhados no Hospital Universitário de Brasília. SUJEITOS E MÉTODOS: O SNP 7903146 do TCF7L2 foi genotipado por PCR alelo-específica em 113 pacientes portadores de DM2 e em 139 controles não diabéticos em Brasília, Brasil. RESULTADOS: Foi observada associação significativa do alelo T do SNP rs7903146 do TCF7L2 com a ocorrência de DM2 (razão de chances de 3,92 para o genótipo TT utilizando o modelo genético recessivo, p = 0,003; e de 1,5 para o alelo T, p = 0,032). CONCLUSÃO: Esse resultado reforça os achados prévios de associação consistente desse fator genético com o risco de diabetes em populações de origens étnicas diversas. Arq Bras Endocrinol Metab. 2012;56(8):479-84.
Subject(s)
Female , Humans , Male , Middle Aged , /genetics , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide/genetics , /genetics , Alleles , Case-Control Studies , Gene Frequency , Genotype , Models, Genetic , Polymorphism, GeneticABSTRACT
Differentiated thyroid cancer rarely occurs in association with hyperfunctioning nodules. We describe a case of a 47-year-old woman who developed symptoms of hyperthyroidism associated with a palpable thyroid nodule. Thyroid scintigraphy showed an autonomous nodule, and fine-needle aspiration biopsy was suggestive of papillary carcinoma. Laboratorial findings were consistent with the diagnosis of hyperthyroidism. The patient underwent thyroidectomy and a papillary carcinoma of 3.0 x 3.0 x 2.0 cm, follicular variant, was described by histological examination. The surrounding thyroid tissue was normal. Postoperatively, the patient received 100 mCi of 131I, and whole body scans detected only residual uptake. No evidence of metastasis was detected during five years of follow-up. Hot thyroid nodules rarely harbor malignancies, and this case illustrated that, when a carcinoma occurs the prognosis seems to be very good with no evidence of metastatic dissemination during a long-term follow-up.
O câncer diferenciado de tireoide raramente ocorre em associação a nódulos hiperfuncionantes. Foi descrito aqui o caso de uma paciente de 47 anos de idade que desenvolveu sintomas de hipertireoidismo associados a um nódulo tireoidiano palpável. A cintilografia da tireoide mostrou tratar-se de um nódulo autônomo, e a biópsia por punção aspirativa por agulha fina foi sugestiva de carcinoma papilar. Os achados laboratoriais foram consistentes com o diagnóstico de hipertireoidismo. A paciente foi submetida à tireoidectomia e um carcinoma papilar de 3,0 x 3,0 x 2,0 cm, variante folicular, foi descrito por exame histopatológico. O tecido tireoidiano circunjacente era normal. No pós-operatório a paciente recebeu 100 mCi de 131I, e a cintilografia de corpo inteiro mostrou apenas captação residual. Nenhuma metástase foi identificada ao longo de cinco anos de acompanhamento. Nódulos quentes raramente albergam doença maligna, e este caso demonstrou que, quando ocorre carcinoma, o prognóstico parece ser muito bom, sem evidência de disseminação metastática em longo prazo.
Subject(s)
Female , Humans , Middle Aged , Carcinoma, Papillary/complications , Hyperthyroidism/etiology , Thyroid Neoplasms/complications , Thyroid Nodule/complications , Neoplasm, ResidualABSTRACT
A síndrome de Down está frequentemente associada ao hipotireoidismo, e o derrame pericárdico sem comprometimento hemodinâmico tem sido descrito na literatura. O tamponamento cardíaco representa complicação extremamente rara nesses pacientes. Os autores descrevem paciente feminina de 20 anos de idade, com síndrome de Down, que apresentou quadro de derrame pericárdico e tamponamento cardíaco, em consequência de hipotireoidismo não reconhecido previamente. Todos os pacientes com síndrome de Down devem ter rastreamento de rotina com vistas ao hipotireoidismo.
Down syndrome is frequently associated to hypothyroidism, and pericardial effusions without hemodynamic compromise have been described in the literature, while cardiac tamponade represents an extremely rare complication in these patients. We describe a 20-year-old female with Down syndrome who presented with cardiac tamponade from pericardial effusion due to previously unrecognized hypothyroidism. All patients with Down syndrome should be routinely screened for hypothyroidism.
Subject(s)
Humans , Female , Adult , Cardiac Tamponade , Hypothyroidism , Pericardial Effusion , Down Syndrome/complicationsABSTRACT
A disfunção tireoidiana subclínica é uma alteração comum, definida como condição assintomática com níveis séricos anormais de hormônio estimulador da tireóide, e níveis de tiroxina e de triiodotironina dentro dos limites de referência. O manejo dessa desordem é muito controverso. A maioria das organizações norte-americanas não recomenda o rastreamento de rotina em indivíduos assintomáticos. No entanto, é recomendado o rastreamento nas populações de alto risco. Com relação ao tratamento, as evidências existentes são insuficientes para indicar o tratamento para todos os pacientes. O julgamento clínico é ainda a ferramenta mais importante no manejo do hipotireoidismo e do hipertireoidismo subclínicos.
Subclinical thyroid dysfunction is a common disease, defined as an assintomatic condition with an abnormal serum thyroid-stimulating hormone and free thyroxine and triiodothyronine levels within their reference ranges. The management of this disorder is very controversial. Most North American organizations recommend against routine screening of asymptomatic patients, but screening is recommended for high-risk populations. Regarding treatment, there is insufficient evidence for treating all patients. Clinical judgment is still the most important tool concerning management of subclinical hypothyroidism and hyperthyroidism.