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Genetic Aspects in Shoulder Disorders

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 profile...

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Autores principales: Cohen, Carina, Figueiredo, Eduardo A., Belangero, Paulo S., Andreoli, Carlos Vicente, Leal, Mariana Ferreira, Ejnisman, Benno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Ortopedia e Traumatologia. Published by Thieme Revinter Publicações Ltda 2020
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575388/
https://www.ncbi.nlm.nih.gov/pubmed/33093716
http://dx.doi.org/10.1055/s-0040-1702955
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author Cohen, Carina
Figueiredo, Eduardo A.
Belangero, Paulo S.
Andreoli, Carlos Vicente
Leal, Mariana Ferreira
Ejnisman, Benno
author_facet Cohen, Carina
Figueiredo, Eduardo A.
Belangero, Paulo S.
Andreoli, Carlos Vicente
Leal, Mariana Ferreira
Ejnisman, Benno
author_sort Cohen, Carina
collection PubMed
description 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.
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spelling pubmed-75753882020-10-21 Genetic Aspects in Shoulder Disorders Cohen, Carina Figueiredo, Eduardo A. Belangero, Paulo S. Andreoli, Carlos Vicente Leal, Mariana Ferreira Ejnisman, Benno Rev Bras Ortop (Sao Paulo) 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. Sociedade Brasileira de Ortopedia e Traumatologia. Published by Thieme Revinter Publicações Ltda 2020-10 2020-06-08 /pmc/articles/PMC7575388/ /pubmed/33093716 http://dx.doi.org/10.1055/s-0040-1702955 Text en 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/ ). https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Cohen, Carina
Figueiredo, Eduardo A.
Belangero, Paulo S.
Andreoli, Carlos Vicente
Leal, Mariana Ferreira
Ejnisman, Benno
Genetic Aspects in Shoulder Disorders
title Genetic Aspects in Shoulder Disorders
title_full Genetic Aspects in Shoulder Disorders
title_fullStr Genetic Aspects in Shoulder Disorders
title_full_unstemmed Genetic Aspects in Shoulder Disorders
title_short Genetic Aspects in Shoulder Disorders
title_sort genetic aspects in shoulder disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575388/
https://www.ncbi.nlm.nih.gov/pubmed/33093716
http://dx.doi.org/10.1055/s-0040-1702955
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