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

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
Author: Skuladottir, Astros Th
Bjornsdottir, Gyda   orcid.org/0000-0002-8100-0306
Thorleifsson, Gudmar   orcid.org/0000-0003-4623-9087
Walters, G. Bragi   orcid.org/0000-0002-5415-6487
Nawaz, Muhammad Sulaman
Moore, Kristjan Helgi Swerford
Olason, Pall I.
Thorgeirsson, Thorgeir E.
Sigurpalsdottir, Brynja
Sveinbjornsson, Gardar   orcid.org/0000-0003-2429-9468
... 23 more authors Show all authors
Date: 2021-02-18
Language: English
Scope: 4188
University/Institute: Reykjavik University
Department: Faculty of Medicine
Internal Medicine and Emergency Services
Faculty of History and Philosophy
Clinical Laboratory Services, Diagnostics and Blood Bank
Series: Scientific Reports; 11(1)
ISSN: 2045-2322
DOI: https://doi.org/10.1038/s41598-021-82736-w
Subject: Andlit; Lömun; Taugar; Erfðafræði; Ball's Palsy; Prospective Studies; Humans; Middle Aged; Male; Risk; Bell Palsy/genetics; Facial Nerve/pathology; Facial Paralysis/genetics; Genome-Wide Association Study/methods; Inflammation/genetics; Adult; Female; Aged; Facial Muscles/pathology; Movement/physiology; Multidisciplinary; 602891; 848099
URI: https://hdl.handle.net/20.500.11815/3068

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Skuladottir , A T , Bjornsdottir , G , Thorleifsson , G , Walters , G B , Nawaz , M S , Moore , K H S , Olason , P I , Thorgeirsson , T E , Sigurpalsdottir , B , Sveinbjornsson , G , Eggertsson , H P , Magnusson , S H , Oddsson , A , Bjornsdottir , A , Vikingsson , A , Sveinsson , O A , Hrafnsdottir , M G , Sigurdardottir , G R , Halldorsson , B V , Hansen , T F , Paarup , H , Erikstrup , C , Nielsen , K , Klokker , M , Bruun , M T , Sorensen , E , Banasik , K , Burgdorf , K S , Pedersen , O B , Ullum , H , Jonsdottir , I , Stefansson , H & Stefansson , K 2021 , ' A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy ' , Scientific Reports , vol. 11 , no. 1 , 4188 , pp. 4188 . https://doi.org/10.1038/s41598-021-82736-w


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.


We thank all participants in this study for their valuable contribution to research. We further thank our colleagues who contributed to the data collection, phenotypic characterization of clinical samples, genotyping and analysis of the whole-genome association data. This research has been conducted using the UK Biobank Resource under Application Number 24898. We want to acknowledge the participants and investigators of the FinnGen study. The financial support from the European Commission to the NeuroPain project (FP7#HEALTH-2013-602891-2) and painFACT project (H2020-2020-848099), and the National Institutes of Health (R01DE022905) is acknowledged. Publisher Copyright: © 2021, The Author(s).

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