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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| Format: | Article |
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Nature Portfolio
2021-02-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-021-82736-w |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-14T16:01:36Z |
| format | Article |
| id | doaj.art-3d2fc42f3e4e427a80a49c09b7408bbb |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-14T16:01:36Z |
| publishDate | 2021-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-3d2fc42f3e4e427a80a49c09b7408bbb2022-12-21T22:55:10ZengNature PortfolioScientific Reports2045-23222021-02-011111810.1038/s41598-021-82736-wA meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsyAstros Th. Skuladottir0Gyda Bjornsdottir1Gudmar Thorleifsson2G. Bragi Walters3Muhammad Sulaman Nawaz4Kristjan Helgi Swerford Moore5Pall I. Olason6Thorgeir E. Thorgeirsson7Brynja Sigurpalsdottir8Gardar Sveinbjornsson9Hannes P. Eggertsson10Sigurdur H. Magnusson11Asmundur Oddsson12Anna Bjornsdottir13Arnor Vikingsson14Olafur A. Sveinsson15Maria G. Hrafnsdottir16Gudrun R. Sigurdardottir17Bjarni V. Halldorsson18Thomas Folkmann Hansen19Helene Paarup20Christian Erikstrup21Kaspar Nielsen22Mads Klokker23Mie Topholm Bruun24Erik Sorensen25Karina Banasik26Kristoffer S. Burgdorf27Ole Birger Pedersen28Henrik Ullum29Ingileif Jonsdottir30Hreinn Stefansson31Kari Stefansson32deCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncLaeknasetrid ClinicLandspitali - the National University Hospital of IcelandLandspitali - the National University Hospital of IcelandLandspitali - the National University Hospital of IcelandLaeknasetrid ClinicdeCODE Genetics/Amgen IncKobenhavns UniversitetOdense UniversitetshospitalAarhus UniversitetshospitalAalborg UniversitetshospitalRigshospitaletOdense UniversitetshospitalRigshospitaletKobenhavns UniversitetRigshospitaletNeastved HospitalRigshospitaletdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncdeCODE Genetics/Amgen IncAbstract 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.https://doi.org/10.1038/s41598-021-82736-w |
| spellingShingle | 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 Scientific Reports |
| 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 |
| url | https://doi.org/10.1038/s41598-021-82736-w |
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