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A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy
Bell’s palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous studies have implicated post-viral inflammation and resulting com...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893061/ https://www.ncbi.nlm.nih.gov/pubmed/33602968 http://dx.doi.org/10.1038/s41598-021-82736-w |
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| author | Skuladottir, Astros Th. Bjornsdottir, Gyda Thorleifsson, Gudmar Walters, G. Bragi Nawaz, Muhammad Sulaman Moore, Kristjan Helgi Swerford Olason, Pall I. Thorgeirsson, Thorgeir E. Sigurpalsdottir, Brynja Sveinbjornsson, Gardar Eggertsson, Hannes P. Magnusson, Sigurdur H. Oddsson, Asmundur Bjornsdottir, Anna Vikingsson, Arnor Sveinsson, Olafur A. Hrafnsdottir, Maria G. Sigurdardottir, Gudrun R. Halldorsson, Bjarni V. Hansen, Thomas Folkmann Paarup, Helene Erikstrup, Christian Nielsen, Kaspar Klokker, Mads Bruun, Mie Topholm Sorensen, Erik Banasik, Karina Burgdorf, Kristoffer S. Pedersen, Ole Birger Ullum, Henrik Jonsdottir, Ingileif Stefansson, Hreinn Stefansson, Kari |
| author_facet | Skuladottir, Astros Th. Bjornsdottir, Gyda Thorleifsson, Gudmar Walters, G. Bragi Nawaz, Muhammad Sulaman Moore, Kristjan Helgi Swerford Olason, Pall I. Thorgeirsson, Thorgeir E. Sigurpalsdottir, Brynja Sveinbjornsson, Gardar Eggertsson, Hannes P. Magnusson, Sigurdur H. Oddsson, Asmundur Bjornsdottir, Anna Vikingsson, Arnor Sveinsson, Olafur A. Hrafnsdottir, Maria G. Sigurdardottir, Gudrun R. Halldorsson, Bjarni V. Hansen, Thomas Folkmann Paarup, Helene Erikstrup, Christian Nielsen, Kaspar Klokker, Mads Bruun, Mie Topholm Sorensen, Erik Banasik, Karina Burgdorf, Kristoffer S. Pedersen, Ole Birger Ullum, Henrik Jonsdottir, Ingileif Stefansson, Hreinn Stefansson, Kari |
| author_sort | Skuladottir, Astros Th. |
| collection | PubMed |
| description | Bell’s palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous studies have implicated post-viral inflammation and resulting compression of the facial nerve. Reported heritability estimates of 4–14% suggest a genetic component in the etiology and an autosomal dominant inheritance has been proposed. Here, we report findings from a meta-analysis of genome-wide association studies uncovering the first unequivocal association with Bell’s palsy (rs9357446-A; P = 6.79 × 10(−23), OR = 1.23; N(cases) = 4714, N(controls) = 1,011,520). The variant also confers risk of intervertebral disc disorders (P = 2.99 × 10(−11), OR = 1.04) suggesting a common pathogenesis in part or a true pleiotropy. |
| format | Online Article Text |
| id | pubmed-7893061 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-78930612021-02-23 A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy Skuladottir, Astros Th. Bjornsdottir, Gyda Thorleifsson, Gudmar Walters, G. Bragi Nawaz, Muhammad Sulaman Moore, Kristjan Helgi Swerford Olason, Pall I. Thorgeirsson, Thorgeir E. Sigurpalsdottir, Brynja Sveinbjornsson, Gardar Eggertsson, Hannes P. Magnusson, Sigurdur H. Oddsson, Asmundur Bjornsdottir, Anna Vikingsson, Arnor Sveinsson, Olafur A. Hrafnsdottir, Maria G. Sigurdardottir, Gudrun R. Halldorsson, Bjarni V. Hansen, Thomas Folkmann Paarup, Helene Erikstrup, Christian Nielsen, Kaspar Klokker, Mads Bruun, Mie Topholm Sorensen, Erik Banasik, Karina Burgdorf, Kristoffer S. Pedersen, Ole Birger Ullum, Henrik Jonsdottir, Ingileif Stefansson, Hreinn Stefansson, Kari Sci Rep Article Bell’s palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous studies have implicated post-viral inflammation and resulting compression of the facial nerve. Reported heritability estimates of 4–14% suggest a genetic component in the etiology and an autosomal dominant inheritance has been proposed. Here, we report findings from a meta-analysis of genome-wide association studies uncovering the first unequivocal association with Bell’s palsy (rs9357446-A; P = 6.79 × 10(−23), OR = 1.23; N(cases) = 4714, N(controls) = 1,011,520). The variant also confers risk of intervertebral disc disorders (P = 2.99 × 10(−11), OR = 1.04) suggesting a common pathogenesis in part or a true pleiotropy. Nature Publishing Group UK 2021-02-18 /pmc/articles/PMC7893061/ /pubmed/33602968 http://dx.doi.org/10.1038/s41598-021-82736-w Text en © The Author(s) 2021 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Article Skuladottir, Astros Th. Bjornsdottir, Gyda Thorleifsson, Gudmar Walters, G. Bragi Nawaz, Muhammad Sulaman Moore, Kristjan Helgi Swerford Olason, Pall I. Thorgeirsson, Thorgeir E. Sigurpalsdottir, Brynja Sveinbjornsson, Gardar Eggertsson, Hannes P. Magnusson, Sigurdur H. Oddsson, Asmundur Bjornsdottir, Anna Vikingsson, Arnor Sveinsson, Olafur A. Hrafnsdottir, Maria G. Sigurdardottir, Gudrun R. Halldorsson, Bjarni V. Hansen, Thomas Folkmann Paarup, Helene Erikstrup, Christian Nielsen, Kaspar Klokker, Mads Bruun, Mie Topholm Sorensen, Erik Banasik, Karina Burgdorf, Kristoffer S. Pedersen, Ole Birger Ullum, Henrik Jonsdottir, Ingileif Stefansson, Hreinn Stefansson, Kari A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy |
| title | A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy |
| title_full | A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy |
| title_fullStr | A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy |
| title_full_unstemmed | A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy |
| title_short | A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy |
| title_sort | meta-analysis uncovers the first sequence variant conferring risk of bell’s palsy |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893061/ https://www.ncbi.nlm.nih.gov/pubmed/33602968 http://dx.doi.org/10.1038/s41598-021-82736-w |
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