Avaliação genética de pacientes com osteoporose
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Data
2006-08-07
Autores
Tayar, Giullianna [UNESP]
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Universidade Estadual Paulista (Unesp)
Resumo
A osteoporose é uma doença metabólica, que se caracteriza por baixa massa e deterioração do tecido ósseo, conduzindo à fragilidade do osso com conseqüente aumento do risco de fraturas. O início da doença é influenciado por uma complexa interação entre fatores genéticos e ambientais, que pode afetar diferentemente os indivíduos. Por essa razão, faz-se necessário o estudo dos polimorfismos dos genes associados ao metabolismo ósseo, como os do Receptor para Vitamina D (VDR) e da Apolipoproteína E (APOE), além dos envolvidos no biometabolismo de agentes ambientais, como as Glutatião-S-Transferases (GSTs). Foram estudados 53 pacientes, homens e mulheres, com osteoporose e ou osteopenia, pareados por sexo e faixa etária com um grupo controle. O DNA foi extraído de leucócitos de sangue periférico e amplificado por Reação em Cadeia da Polimerase (PCR). Os polimorfismos GSTM1 e GSTT1 foram analisados em gel de agarose 2%, enquanto os da APOE e VDR foram submetidos à restrição enzimática com as enzimas Hha I e Fok I, respectivamente, seguido da análise em gel de poliacrilamida 6%, corados com brometo de etídeo e visualizados em luz UV. A análise estatística dos dados foi realizada, utilizando-se o teste t, teste de Fisher, a regressão multivariada e o teste de equilíbrio de Hardy-Weinberg. O genótipo nulo (0/0) de GSTM1 mostrou-se significantemente mais freqüente nos pacientes (64,1%) comparado ao dos controles (37,7%; P= 0,00112). Por outro lado, pacientes e controles não diferiram quanto à presença (+/+) e ausência (0/0) do gene GSTT1 (P=0,5328). A distribuição genotípica do polimorfismo VDR – Fok I revelou freqüência significantemente aumentada do genótipo ff nos pacientes (22,6%; P=0,0078). Para o gene da APOE, o alelo e3 foi significantemente mais freqüente nos controles (0,85; P=0,0431), enquanto...
Osteoporosis is a metabolic disease characterized by low body mass and bone deterioration, leading to bone fragility with the consequent increase of fractures risk. The disease onset is influenced by a complex interaction between genetic, and environment factors that can affect differently the individuals’ response. Therefore, the study of polymorphisms regarding the genes involved in bone metabolism is of upgrade necessity, such as the Vitamin D Receptor gene (VDR), Apolipoprotein E (APOE), besides the genes involved in xenobiotic metabolism, it means, the Glutathion-S-Transferases (GSTs). We have studied 53 patients, men and women, with osteoporosis and/or osteopenia, matched by gender and age with a control group. The DNA was extracted from peripheral blood lymphocytes and amplified through Polimerase Chain Reaction (PCR). GSTM1, and GSTT1 polymorphisms were analyzed in 2% agarose gel, while APOE, and VDR had been submitted to enzymatic restriction with Hha I and Fok I enzymes, respectively, followed by the analysis in 6% polyacrilamide gel, stained with ethidium bromide and visualized under UV light. The statistic analysis was carried on using test t, test of Fisher, the multi-varied regression and the test of Hardy-Weinberg balance. The GSTM1 null genotype (0/0) was significantly more frequent in patients (64.1%) compared to the controls (37.7%; P= 0.00112). On the other hand, patients, and controls did not differ concerning the presence (++) and absence (0/0) of GSTT1 gene (P=0.5328). The genotypic distribution of VDR –Fok I polymorphism showed a significantly increased frequency of the genotype ff in patients (22.6%; P=0.0078). For the APOE, the allele e3 was significantly more frequent in controls (0.85; P=0.0431), while the allele e4 was in patients (0.20; P=0.0075). The genotype...(Complete abstract click electronic access below)
Osteoporosis is a metabolic disease characterized by low body mass and bone deterioration, leading to bone fragility with the consequent increase of fractures risk. The disease onset is influenced by a complex interaction between genetic, and environment factors that can affect differently the individuals’ response. Therefore, the study of polymorphisms regarding the genes involved in bone metabolism is of upgrade necessity, such as the Vitamin D Receptor gene (VDR), Apolipoprotein E (APOE), besides the genes involved in xenobiotic metabolism, it means, the Glutathion-S-Transferases (GSTs). We have studied 53 patients, men and women, with osteoporosis and/or osteopenia, matched by gender and age with a control group. The DNA was extracted from peripheral blood lymphocytes and amplified through Polimerase Chain Reaction (PCR). GSTM1, and GSTT1 polymorphisms were analyzed in 2% agarose gel, while APOE, and VDR had been submitted to enzymatic restriction with Hha I and Fok I enzymes, respectively, followed by the analysis in 6% polyacrilamide gel, stained with ethidium bromide and visualized under UV light. The statistic analysis was carried on using test t, test of Fisher, the multi-varied regression and the test of Hardy-Weinberg balance. The GSTM1 null genotype (0/0) was significantly more frequent in patients (64.1%) compared to the controls (37.7%; P= 0.00112). On the other hand, patients, and controls did not differ concerning the presence (++) and absence (0/0) of GSTT1 gene (P=0.5328). The genotypic distribution of VDR –Fok I polymorphism showed a significantly increased frequency of the genotype ff in patients (22.6%; P=0.0078). For the APOE, the allele e3 was significantly more frequent in controls (0.85; P=0.0431), while the allele e4 was in patients (0.20; P=0.0075). The genotype...(Complete abstract click electronic access below)
Descrição
Palavras-chave
Genetic polymorphism, Osteoporosis, Smoking habit, Bone Mineral Density (BMD), Osteoporose - Aspectos genéticos, Polimorfismo (Genética)
Como citar
TAYAR, Giullianna. Avaliação genética de pacientes com osteoporose. 2006. 111 f. Dissertação (mestrado) - Universidade Estadual Paulista, Instituto de Biociências, Letras e Ciências Exatas, 2006.