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A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy
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| Titill: | A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy |
| Höfundur: |
... 23 fleiri höfundar Sýna alla höfunda |
| Útgáfa: | 2021-02-18 |
| Tungumál: | Enska |
| Umfang: | 1563815 |
| Háskóli/Stofnun: | Reykjavik University |
| Deild: | Faculty of Medicine Internal Medicine and Emergency Services Other departments Clinical Laboratory Services, Diagnostics and Blood Bank |
| Birtist í: | Scientific Reports; 11(1) |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-021-82736-w |
| Efnisorð: | 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 |
Tilvitnun: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
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Útdráttur: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.
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Athugasemdir: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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