A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy
Abstract 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 resu...
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2021
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oai:doaj.org-article:3d2fc42f3e4e427a80a49c09b7408bbb2021-12-02T14:21:53ZA meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy10.1038/s41598-021-82736-w2045-2322https://doaj.org/article/3d2fc42f3e4e427a80a49c09b7408bbb2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-82736-whttps://doaj.org/toc/2045-2322Abstract 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.Astros Th. SkuladottirGyda BjornsdottirGudmar ThorleifssonG. Bragi WaltersMuhammad Sulaman NawazKristjan Helgi Swerford MoorePall I. OlasonThorgeir E. ThorgeirssonBrynja SigurpalsdottirGardar SveinbjornssonHannes P. EggertssonSigurdur H. MagnussonAsmundur OddssonAnna BjornsdottirArnor VikingssonOlafur A. SveinssonMaria G. HrafnsdottirGudrun R. SigurdardottirBjarni V. HalldorssonThomas Folkmann HansenHelene PaarupChristian ErikstrupKaspar NielsenMads KlokkerMie Topholm BruunErik SorensenKarina BanasikKristoffer S. BurgdorfOle Birger PedersenHenrik UllumIngileif JonsdottirHreinn StefanssonKari StefanssonNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021) |
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Medicine R Science Q Astros Th. Skuladottir Gyda Bjornsdottir Gudmar Thorleifsson G. Bragi Walters Muhammad Sulaman Nawaz Kristjan Helgi Swerford Moore Pall I. Olason Thorgeir E. Thorgeirsson Brynja Sigurpalsdottir Gardar Sveinbjornsson Hannes P. Eggertsson Sigurdur H. Magnusson Asmundur Oddsson Anna Bjornsdottir Arnor Vikingsson Olafur A. Sveinsson Maria G. Hrafnsdottir Gudrun R. Sigurdardottir Bjarni V. Halldorsson Thomas Folkmann Hansen Helene Paarup Christian Erikstrup Kaspar Nielsen Mads Klokker Mie Topholm Bruun Erik Sorensen Karina Banasik Kristoffer S. Burgdorf Ole Birger Pedersen Henrik Ullum Ingileif Jonsdottir Hreinn Stefansson Kari Stefansson A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy |
| description |
Abstract 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 |
article |
| author |
Astros Th. Skuladottir Gyda Bjornsdottir Gudmar Thorleifsson G. Bragi Walters Muhammad Sulaman Nawaz Kristjan Helgi Swerford Moore Pall I. Olason Thorgeir E. Thorgeirsson Brynja Sigurpalsdottir Gardar Sveinbjornsson Hannes P. Eggertsson Sigurdur H. Magnusson Asmundur Oddsson Anna Bjornsdottir Arnor Vikingsson Olafur A. Sveinsson Maria G. Hrafnsdottir Gudrun R. Sigurdardottir Bjarni V. Halldorsson Thomas Folkmann Hansen Helene Paarup Christian Erikstrup Kaspar Nielsen Mads Klokker Mie Topholm Bruun Erik Sorensen Karina Banasik Kristoffer S. Burgdorf Ole Birger Pedersen Henrik Ullum Ingileif Jonsdottir Hreinn Stefansson Kari Stefansson |
| author_facet |
Astros Th. Skuladottir Gyda Bjornsdottir Gudmar Thorleifsson G. Bragi Walters Muhammad Sulaman Nawaz Kristjan Helgi Swerford Moore Pall I. Olason Thorgeir E. Thorgeirsson Brynja Sigurpalsdottir Gardar Sveinbjornsson Hannes P. Eggertsson Sigurdur H. Magnusson Asmundur Oddsson Anna Bjornsdottir Arnor Vikingsson Olafur A. Sveinsson Maria G. Hrafnsdottir Gudrun R. Sigurdardottir Bjarni V. Halldorsson Thomas Folkmann Hansen Helene Paarup Christian Erikstrup Kaspar Nielsen Mads Klokker Mie Topholm Bruun Erik Sorensen Karina Banasik Kristoffer S. Burgdorf Ole Birger Pedersen Henrik Ullum Ingileif Jonsdottir Hreinn Stefansson Kari Stefansson |
| author_sort |
Astros Th. Skuladottir |
| title |
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_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_sort |
meta-analysis uncovers the first sequence variant conferring risk of bell’s palsy |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/3d2fc42f3e4e427a80a49c09b7408bbb |
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