Polimorfismo do gene da eca e da α-actinina 3 na escoliose idiopática do adolescente

OBJECTIVE: The I/D polymorphism of angiotensin-converting enzyme (ACE) and R577X of the α-actinin-3 (ACTN3) is related to changes in skeletal muscle function. The aim of this study was to evaluate the distribution of these polymorphisms in a family with multiple members with adolescent idiopathic sc...

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Detalhes bibliográficos
Autores: Wajchenberg, Marcelo [UNIFESP], Luciano, Rafael de Paiva [UNIFESP], Araújo, Ronaldo de Carvalho [UNIFESP], Martins, Délio Eulálio [UNIFESP], Puertas, Eduardo Barros [UNIFESP], Almeida, Sandro Soares [UNIFESP]
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2013
País:Brasil
Recursos:Universidade Federal de São Paulo (UNIFESP)
Repositório:Repositório Institucional da UNIFESP
Idioma:português
OAI Identifier:oai:repositorio.unifesp.br:11600/7839
Acesso em linha:http://dx.doi.org/10.1590/S1413-78522013000300009
http://repositorio.unifesp.br/handle/11600/7839
Access Level:Acceso aberto
Palavra-chave:Scoliosis
Polymorphism, genetic
Spine
Escoliose
Polimorfismo genético
Coluna vertebral
Descrição
Resumo:OBJECTIVE: The I/D polymorphism of angiotensin-converting enzyme (ACE) and R577X of the α-actinin-3 (ACTN3) is related to changes in skeletal muscle function. The aim of this study was to evaluate the distribution of these polymorphisms in a family with multiple members with adolescent idiopathic scoliosis (AIS). METHODS: Evaluated 25 subjects from a family with multiple members with AIS, by collecting 10mL of blood for DNA isolation. The genotyping of the I/D polymorphism of the ACE gene and the R577X of the ACTN3 gene was performed using two specific primers to classify individuals as homozygous or heterozygous. RESULTS: Regarding the ACE polymorphism it was found that 19 (76%) subjects were DD and 6 (24%) ID. The prevalence of the D allele was 88% and the I allele was 12%. Regarding the ACTN3 polymorphism there were 6 subjects RR (24%), 11 RX (44%) and 8 XX (32%). The prevalence of the R allele was 23 (46%) and the X allele was 27 (54%). CONCLUSION: There was a difference between the distribution of the polymorphism of ACE and ACTN3 in the family studied. When assessing the ACE polymorphism a higher prevalence of the D allele was observed as compared with the I allele. Level of evidence iii, cross-sectional, clinical trial.

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