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CC BY-NC-ND 4.0 · Rev Bras Ortop (Sao Paulo) 2020; 55(05): 537-542
DOI: 10.1055/s-0040-1702955
Artigo de Atualização
Ombro e Cotovelo

Aspectos genéticos nas afecções do ombro[∗]

Article in several languages: português | English
Carina Cohen 
1   Disciplina de Medicina do Esporte e Atividade Física , Centro de Traumatologia do Esporte, Universidade Federal de São Paulo, São Paulo, SP, Brasil
,
Eduardo A. Figueiredo 
1   Disciplina de Medicina do Esporte e Atividade Física , Centro de Traumatologia do Esporte, Universidade Federal de São Paulo, São Paulo, SP, Brasil
,
Paulo S. Belangero 
1   Disciplina de Medicina do Esporte e Atividade Física , Centro de Traumatologia do Esporte, Universidade Federal de São Paulo, São Paulo, SP, Brasil
,
Carlos Vicente Andreoli 
1   Disciplina de Medicina do Esporte e Atividade Física , Centro de Traumatologia do Esporte, Universidade Federal de São Paulo, São Paulo, SP, Brasil
,
Mariana Ferreira Leal 
2   Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, SP, Brasil
,
Benno Ejnisman 
1   Disciplina de Medicina do Esporte e Atividade Física , Centro de Traumatologia do Esporte, Universidade Federal de São Paulo, São Paulo, SP, Brasil
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Resumo

A influência da herança genética tem sido cada vez mais investigada nas afecções do ombro, como a lesão do manguito rotador, instabilidade e ombro congelado. Ainda que os achados iniciais sejam pouco esclarecedores, é necessário construir progressivamente um banco de marcadores genéticos para catalogar perfis genômicos que, mais adiante, poderão contribuir para a previsão do risco da doença, desenvolvimento de melhores ferramentas de diagnóstico e tratamento. O presente artigo busca atualizar o que há de evidências de estudos genéticos na literatura para essas doenças, desde análises de polimorfismos, expressão de genes candidatos em tecidos e estudos de associação genômica ampla (GWAS, na sigla em inglês). Porém, é necessário apontar que existe grande dificuldade na replicação e utilização dos achados, principalmente em razão da falta de poder estatístico, da alta taxa de resultados falso-positivos e da grande quantidade de variáveis envolvidas.

Palavras-chave

ombro - polimorfismo genético - expressão gênica

∗ Trabalho desenvolvido na Disciplina de Medicina do Esporte e Atividade Física, Centro de Traumatologia do Esporte (CETE), Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brasil.




Publication History

Received: 05 September 2019

Accepted: 12 November 2019

Article published online:
08 June 2020

© 2020. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

Sociedade Brasileira de Ortopedia e Traumatologia. Published by Thieme Revinter Publicações Ltda
Rio de Janeiro, Brazil

 

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