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Rigshospitalet - en del af Københavns Universitetshospital
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A meta-analysis uncovers the first sequence variant conferring risk of Bell's palsy

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DOI

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  • 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
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftScientific Reports
Vol/bind11
Udgave nummer1
Sider (fra-til)4188
ISSN2045-2322
DOI
StatusUdgivet - 18 feb. 2021

ID: 63735403