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

Genetic Aspects in Shoulder Disorders[]

Article in several languages: português | English
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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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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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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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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2  Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, SP, Brasil
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1  Disciplina de Medicina do Esporte e Atividade Física , Centro de Traumatologia do Esporte, Universidade Federal de São Paulo, São Paulo, SP, Brasil
› Author Affiliations

Abstract

The influence of genetic inheritance has been increasingly investigated in shoulder disorders, such as rotator cuff injury, instability and frozen shoulder. Although the initial findings are enlightening, it is necessary to progressively build a database of genetic markers to catalog genomic profiles that, later, may contribute for predicting the risk of the disease, as well as to the development of better diagnostic and treatment tools. The present article seeks to update what is evidence of genetic studies in the literature for these diseases, from polymorphism analyses, expression of candidate genes in tissues and broad genomic association studies (GWAS). However, it is necessary to point out that there is great difficulty in replicating and using the findings, mainly due to the lack of statistical power, the high rate of false-positive results and the large number of variables involved.

Work developed in the Sports Medicine and Physical Activity Discipline, Sports Traumatology Center (CETE, in the Portuguese acronym), Universidade Federal de São Paulo (UNIFESP, in the Portuguese acronym), São Paulo, SP, Brazil.




Publication History

Received: 05 September 2019

Accepted: 12 November 2019

Publication Date:
08 June 2020 (online)

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