Genetic Aspects in Shoulder Disorders

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.

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Main Authors: Cohen,Carina, Figueiredo,Eduardo A., Belangero,Paulo S., Andreoli,Carlos Vicente, Leal,Mariana Ferreira, Ejnisman,Benno
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Ortopedia e Traumatologia 2020
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-36162020000500537
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spelling oai:scielo:S0102-361620200005005372020-11-27Genetic Aspects in Shoulder DisordersCohen,CarinaFigueiredo,Eduardo A.Belangero,Paulo S.Andreoli,Carlos VicenteLeal,Mariana FerreiraEjnisman,Benno shoulder genetic polymorphism gene expression 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.info:eu-repo/semantics/openAccessSociedade Brasileira de Ortopedia e TraumatologiaRevista Brasileira de Ortopedia v.55 n.5 20202020-10-01info:eu-repo/semantics/othertext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-36162020000500537en10.1055/s-0040-1702955
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country Brasil
countrycode BR
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libraryname SciELO
language English
format Digital
author Cohen,Carina
Figueiredo,Eduardo A.
Belangero,Paulo S.
Andreoli,Carlos Vicente
Leal,Mariana Ferreira
Ejnisman,Benno
spellingShingle Cohen,Carina
Figueiredo,Eduardo A.
Belangero,Paulo S.
Andreoli,Carlos Vicente
Leal,Mariana Ferreira
Ejnisman,Benno
Genetic Aspects in Shoulder Disorders
author_facet Cohen,Carina
Figueiredo,Eduardo A.
Belangero,Paulo S.
Andreoli,Carlos Vicente
Leal,Mariana Ferreira
Ejnisman,Benno
author_sort Cohen,Carina
title Genetic Aspects in Shoulder Disorders
title_short 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_sort genetic aspects in shoulder disorders
description 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.
publisher Sociedade Brasileira de Ortopedia e Traumatologia
publishDate 2020
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-36162020000500537
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AT figueiredoeduardoa geneticaspectsinshoulderdisorders
AT belangeropaulos geneticaspectsinshoulderdisorders
AT andreolicarlosvicente geneticaspectsinshoulderdisorders
AT lealmarianaferreira geneticaspectsinshoulderdisorders
AT ejnismanbenno geneticaspectsinshoulderdisorders
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