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A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome
Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948232/ https://www.ncbi.nlm.nih.gov/pubmed/35332129 http://dx.doi.org/10.1038/s41467-022-29133-7 |
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| author | Skuladottir, Astros Th. Bjornsdottir, Gyda Ferkingstad, Egil Einarsson, Gudmundur Stefansdottir, Lilja Nawaz, Muhammad Sulaman Oddsson, Asmundur Olafsdottir, Thorunn A. Saevarsdottir, Saedis Walters, G. Bragi Magnusson, Sigurdur H. Bjornsdottir, Anna Sveinsson, Olafur A. Vikingsson, Arnor Hansen, Thomas Folkmann Jacobsen, Rikke Louise Erikstrup, Christian Schwinn, Michael Brunak, Søren Banasik, Karina Ostrowski, Sisse Rye Troelsen, Anders Henkel, Cecilie Pedersen, Ole Birger Jonsdottir, Ingileif Gudbjartsson, Daniel F. Sulem, Patrick Thorgeirsson, Thorgeir E. Stefansson, Hreinn Stefansson, Kari |
| author_facet | Skuladottir, Astros Th. Bjornsdottir, Gyda Ferkingstad, Egil Einarsson, Gudmundur Stefansdottir, Lilja Nawaz, Muhammad Sulaman Oddsson, Asmundur Olafsdottir, Thorunn A. Saevarsdottir, Saedis Walters, G. Bragi Magnusson, Sigurdur H. Bjornsdottir, Anna Sveinsson, Olafur A. Vikingsson, Arnor Hansen, Thomas Folkmann Jacobsen, Rikke Louise Erikstrup, Christian Schwinn, Michael Brunak, Søren Banasik, Karina Ostrowski, Sisse Rye Troelsen, Anders Henkel, Cecilie Pedersen, Ole Birger Jonsdottir, Ingileif Gudbjartsson, Daniel F. Sulem, Patrick Thorgeirsson, Thorgeir E. Stefansson, Hreinn Stefansson, Kari |
| author_sort | Skuladottir, Astros Th. |
| collection | PubMed |
| description | Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10(−24), OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in bilateral/recurrent/persistent cases than nonrecurrent/nonpersistent cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS. |
| format | Online Article Text |
| id | pubmed-8948232 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-89482322022-04-08 A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome Skuladottir, Astros Th. Bjornsdottir, Gyda Ferkingstad, Egil Einarsson, Gudmundur Stefansdottir, Lilja Nawaz, Muhammad Sulaman Oddsson, Asmundur Olafsdottir, Thorunn A. Saevarsdottir, Saedis Walters, G. Bragi Magnusson, Sigurdur H. Bjornsdottir, Anna Sveinsson, Olafur A. Vikingsson, Arnor Hansen, Thomas Folkmann Jacobsen, Rikke Louise Erikstrup, Christian Schwinn, Michael Brunak, Søren Banasik, Karina Ostrowski, Sisse Rye Troelsen, Anders Henkel, Cecilie Pedersen, Ole Birger Jonsdottir, Ingileif Gudbjartsson, Daniel F. Sulem, Patrick Thorgeirsson, Thorgeir E. Stefansson, Hreinn Stefansson, Kari Nat Commun Article Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10(−24), OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in bilateral/recurrent/persistent cases than nonrecurrent/nonpersistent cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS. Nature Publishing Group UK 2022-03-24 /pmc/articles/PMC8948232/ /pubmed/35332129 http://dx.doi.org/10.1038/s41467-022-29133-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Article Skuladottir, Astros Th. Bjornsdottir, Gyda Ferkingstad, Egil Einarsson, Gudmundur Stefansdottir, Lilja Nawaz, Muhammad Sulaman Oddsson, Asmundur Olafsdottir, Thorunn A. Saevarsdottir, Saedis Walters, G. Bragi Magnusson, Sigurdur H. Bjornsdottir, Anna Sveinsson, Olafur A. Vikingsson, Arnor Hansen, Thomas Folkmann Jacobsen, Rikke Louise Erikstrup, Christian Schwinn, Michael Brunak, Søren Banasik, Karina Ostrowski, Sisse Rye Troelsen, Anders Henkel, Cecilie Pedersen, Ole Birger Jonsdottir, Ingileif Gudbjartsson, Daniel F. Sulem, Patrick Thorgeirsson, Thorgeir E. Stefansson, Hreinn Stefansson, Kari A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome |
| title | A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome |
| title_full | A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome |
| title_fullStr | A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome |
| title_full_unstemmed | A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome |
| title_short | A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome |
| title_sort | genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948232/ https://www.ncbi.nlm.nih.gov/pubmed/35332129 http://dx.doi.org/10.1038/s41467-022-29133-7 |
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