Fatores genéticos e ambientais envolvidos na degeneração do disco intervertebral
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Data
2007-01-01
Autores
Nunes, Francine Teresa Brioni [UNESP]
Conforti-Froes, Nívea Dulce Tedeschi [UNESP]
Negrelli, Wilson Fábio
Souza, Dorotéia Rossi Silva [UNESP]
Título da Revista
ISSN da Revista
Título de Volume
Editor
Sociedade Brasileira de Ortopedia e Traumatologia
Resumo
A etiologia da degeneração do disco intervertebral (DDI) ainda não está totalmente esclarecida. O gene do receptor da vitamina D (VDR) tem sido apontado como um dos possíveis envolvidos no surgimento das discopatias. Por outro lado, este estudo relaciona pela primeira vez, a participação dos genes das glutatião transferases M1 e T1 (GSTT1 e GSTM1), responsáveis pela inativação dos componentes do cigarro, na DDI. Foi extraído DNA de leucócitos de 66 pacientes e 88 controles, pareados por gênero e idade. O polimorfismo VDR-FokI foi amplificado por reação em cadeia da polimerase (PCR) seguido de restrição com a enzima FokI. Os polimorfismos das GSTT1/M1 foram determinados por meio da PCR multiplex. A história familial e a gravidade da doença se destacaram nos pacientes portadores do alelo f do gene VDR-FokI (P=0,000 e 0,0012, respectivamente). A idade de surgimento da doença mostrou-se precoce nos indivíduos com genótipo _/f (média de 26 anos). Foi encontrada associação do polimorfismo FokI com a degeneração precoce e gravidade da DDI, sendo que o hábito de fumar também interferiu nesse processo, independente da presença ou não do genótipo favorável para GSTT1/M1.
The etiology of intervertebral disc degeneration (IDD) has not been fully clarified yet. Vitamin D receptor s gene (VDR) has been suggested as one of the potential entities involved in disc pathologies onset. on the other hand, this study correlates, for the first time, glutathione transferases M1 and T1 genes (GSTT1 and GSTM1) participation, which are responsible for cigarette components inactivation, in IDD. DNA was extracted from leukocytes of 66 patients and 88 controls, paired by gender and age. The VDR-Fokl polymorphism was amplified by polymerase chain reaction (PCR) followed by restriction with Fokl enzyme. GSTT1/M1 polymorphisms were determined by means of PCR multiplex. Family history and disease severity were highlighted in patients carrying the f allele of the VDR-Fokl gene (P=0.000 and 0.0012, respectively). The age at disease onset has shown to be early in individuals with _/f genotype (average 26 years old). A correlation was found between Fokl polymorphism and early degeneration and IDD severity, with smoking habit also interfering in this process, regardless of the presence or absence of a favorable genotype for GSTT1/M1.
The etiology of intervertebral disc degeneration (IDD) has not been fully clarified yet. Vitamin D receptor s gene (VDR) has been suggested as one of the potential entities involved in disc pathologies onset. on the other hand, this study correlates, for the first time, glutathione transferases M1 and T1 genes (GSTT1 and GSTM1) participation, which are responsible for cigarette components inactivation, in IDD. DNA was extracted from leukocytes of 66 patients and 88 controls, paired by gender and age. The VDR-Fokl polymorphism was amplified by polymerase chain reaction (PCR) followed by restriction with Fokl enzyme. GSTT1/M1 polymorphisms were determined by means of PCR multiplex. Family history and disease severity were highlighted in patients carrying the f allele of the VDR-Fokl gene (P=0.000 and 0.0012, respectively). The age at disease onset has shown to be early in individuals with _/f genotype (average 26 years old). A correlation was found between Fokl polymorphism and early degeneration and IDD severity, with smoking habit also interfering in this process, regardless of the presence or absence of a favorable genotype for GSTT1/M1.
Descrição
Palavras-chave
Fatores de risco, Polimorfismo genético, Disco intervertebral, Risk factors, Polymorphism, genetic, Intervertebral disc
Como citar
Acta Ortopédica Brasileira. Sociedade Brasileira de Ortopedia e Traumatologia, v. 15, n. 1, p. 9-13, 2007.