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Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy

Achilles tendinopathy or rupture and anterior cruciate ligament (ACL) rupture are substantial injuries affecting athletes, associated with delayed recovery or inability to return to competition. To identify genetic markers that might be used to predict risk for these injuries, we performed genome-wi...

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Autores principales: Kim, Stuart K., Roos, Thomas R., Roos, Andrew K., Kleimeyer, John P., Ahmed, Marwa A., Goodlin, Gabrielle T., Fredericson, Michael, Ioannidis, John P. A., Avins, Andrew L., Dragoo, Jason L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373512/
https://www.ncbi.nlm.nih.gov/pubmed/28358823
http://dx.doi.org/10.1371/journal.pone.0170422
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author Kim, Stuart K.
Roos, Thomas R.
Roos, Andrew K.
Kleimeyer, John P.
Ahmed, Marwa A.
Goodlin, Gabrielle T.
Fredericson, Michael
Ioannidis, John P. A.
Avins, Andrew L.
Dragoo, Jason L.
author_facet Kim, Stuart K.
Roos, Thomas R.
Roos, Andrew K.
Kleimeyer, John P.
Ahmed, Marwa A.
Goodlin, Gabrielle T.
Fredericson, Michael
Ioannidis, John P. A.
Avins, Andrew L.
Dragoo, Jason L.
author_sort Kim, Stuart K.
collection PubMed
description Achilles tendinopathy or rupture and anterior cruciate ligament (ACL) rupture are substantial injuries affecting athletes, associated with delayed recovery or inability to return to competition. To identify genetic markers that might be used to predict risk for these injuries, we performed genome-wide association screens for these injuries using data from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort consisting of 102,979 individuals. We did not find any single nucleotide polymorphisms (SNPs) associated with either of these injuries with a p-value that was genome-wide significant (p<5x10(-8)). We found, however, four and three polymorphisms with p-values that were borderline significant (p<10(−6)) for Achilles tendon injury and ACL rupture, respectively. We then tested SNPs previously reported to be associated with either Achilles tendon injury or ACL rupture. None showed an association in our cohort with a false discovery rate of less than 5%. We obtained, however, moderate to weak evidence for replication in one case; specifically, rs4919510 in MIR608 had a p-value of 5.1x10(-3) for association with Achilles tendon injury, corresponding to a 7% chance of false replication. Finally, we tested 2855 SNPs in 90 candidate genes for musculoskeletal injury, but did not find any that showed a significant association below a false discovery rate of 5%. We provide data containing summary statistics for the entire genome, which will be useful for future genetic studies on these injuries.
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spelling pubmed-53735122017-04-07 Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy Kim, Stuart K. Roos, Thomas R. Roos, Andrew K. Kleimeyer, John P. Ahmed, Marwa A. Goodlin, Gabrielle T. Fredericson, Michael Ioannidis, John P. A. Avins, Andrew L. Dragoo, Jason L. PLoS One Research Article Achilles tendinopathy or rupture and anterior cruciate ligament (ACL) rupture are substantial injuries affecting athletes, associated with delayed recovery or inability to return to competition. To identify genetic markers that might be used to predict risk for these injuries, we performed genome-wide association screens for these injuries using data from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort consisting of 102,979 individuals. We did not find any single nucleotide polymorphisms (SNPs) associated with either of these injuries with a p-value that was genome-wide significant (p<5x10(-8)). We found, however, four and three polymorphisms with p-values that were borderline significant (p<10(−6)) for Achilles tendon injury and ACL rupture, respectively. We then tested SNPs previously reported to be associated with either Achilles tendon injury or ACL rupture. None showed an association in our cohort with a false discovery rate of less than 5%. We obtained, however, moderate to weak evidence for replication in one case; specifically, rs4919510 in MIR608 had a p-value of 5.1x10(-3) for association with Achilles tendon injury, corresponding to a 7% chance of false replication. Finally, we tested 2855 SNPs in 90 candidate genes for musculoskeletal injury, but did not find any that showed a significant association below a false discovery rate of 5%. We provide data containing summary statistics for the entire genome, which will be useful for future genetic studies on these injuries. Public Library of Science 2017-03-30 /pmc/articles/PMC5373512/ /pubmed/28358823 http://dx.doi.org/10.1371/journal.pone.0170422 Text en © 2017 Kim et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Kim, Stuart K.
Roos, Thomas R.
Roos, Andrew K.
Kleimeyer, John P.
Ahmed, Marwa A.
Goodlin, Gabrielle T.
Fredericson, Michael
Ioannidis, John P. A.
Avins, Andrew L.
Dragoo, Jason L.
Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy
title Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy
title_full Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy
title_fullStr Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy
title_full_unstemmed Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy
title_short Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy
title_sort genome-wide association screens for achilles tendon and acl tears and tendinopathy
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373512/
https://www.ncbi.nlm.nih.gov/pubmed/28358823
http://dx.doi.org/10.1371/journal.pone.0170422
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