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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 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; Ncases?=?4714, Ncontrols?=?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.

SUBMITTER: Skuladottir AT 

PROVIDER: S-EPMC7893061 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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A meta-analysis uncovers the first sequence variant conferring risk of Bell's palsy.

Skuladottir Astros Th AT   Bjornsdottir Gyda G   Thorleifsson Gudmar G   Walters G Bragi GB   Nawaz Muhammad Sulaman MS   Moore Kristjan Helgi Swerford KHS   Olason Pall I PI   Thorgeirsson Thorgeir E TE   Sigurpalsdottir Brynja B   Sveinbjornsson Gardar G   Eggertsson Hannes P HP   Magnusson Sigurdur H SH   Oddsson Asmundur A   Bjornsdottir Anna A   Vikingsson Arnor A   Sveinsson Olafur A OA   Hrafnsdottir Maria G MG   Sigurdardottir Gudrun R GR   Halldorsson Bjarni V BV   Hansen Thomas Folkmann TF   Paarup Helene H   Erikstrup Christian C   Nielsen Kaspar K   Klokker Mads M   Bruun Mie Topholm MT   Sorensen Erik E   Banasik Karina K   Burgdorf Kristoffer S KS   Pedersen Ole Birger OB   Ullum Henrik H   Jonsdottir Ingileif I   Stefansson Hreinn H   Stefansson Kari K  

Scientific reports 20210218 1


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 fro  ...[more]

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