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

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dc.contributor Reykjavik University
dc.contributor.author Skuladottir, Astros Th
dc.contributor.author Bjornsdottir, Gyda
dc.contributor.author Thorleifsson, Gudmar
dc.contributor.author Walters, G. Bragi
dc.contributor.author Nawaz, Muhammad Sulaman
dc.contributor.author Moore, Kristjan Helgi Swerford
dc.contributor.author Olason, Pall I.
dc.contributor.author Thorgeirsson, Thorgeir E.
dc.contributor.author Sigurpalsdottir, Brynja
dc.contributor.author Sveinbjornsson, Gardar
dc.contributor.author Eggertsson, Hannes P.
dc.contributor.author Magnusson, Sigurdur H.
dc.contributor.author Oddsson, Asmundur
dc.contributor.author Bjornsdottir, Anna
dc.contributor.author Vikingsson, Arnor
dc.contributor.author Sveinsson, Olafur A.
dc.contributor.author Hrafnsdottir, Maria G.
dc.contributor.author Sigurdardottir, Gudrun R.
dc.contributor.author Halldorsson, Bjarni V.
dc.contributor.author Hansen, Thomas Folkmann
dc.contributor.author Paarup, Helene
dc.contributor.author Erikstrup, Christian
dc.contributor.author Nielsen, Kaspar
dc.contributor.author Klokker, Mads
dc.contributor.author Bruun, Mie Topholm
dc.contributor.author Sorensen, Erik
dc.contributor.author Banasik, Karina
dc.contributor.author Burgdorf, Kristoffer S.
dc.contributor.author Pedersen, Ole Birger
dc.contributor.author Ullum, Henrik
dc.contributor.author Jonsdottir, Ingileif
dc.contributor.author Stefansson, Hreinn
dc.contributor.author Stefansson, Kari
dc.date.accessioned 2022-04-23T01:01:37Z
dc.date.available 2022-04-23T01:01:37Z
dc.date.issued 2021-02-18
dc.identifier.citation 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
dc.identifier.issn 2045-2322
dc.identifier.other 36965801
dc.identifier.other 10d9fef1-2dca-456b-9445-bf4a7fc8f0e2
dc.identifier.other 85101028953
dc.identifier.other 33602968
dc.identifier.other 000621416400061
dc.identifier.other unpaywall: 10.1038/s41598-021-82736-w
dc.identifier.uri https://hdl.handle.net/20.500.11815/3068
dc.description 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).
dc.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; 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.
dc.format.extent 1563815
dc.format.extent 4188
dc.language.iso en
dc.relation info:eu-repo/grantAgreement/EC/FP7/
dc.relation info:eu-repo/grantAgreement/EC/FH2020/
dc.relation.ispartofseries Scientific Reports; 11(1)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Andlit
dc.subject Lömun
dc.subject Taugar
dc.subject Erfðafræði
dc.subject Ball's Palsy
dc.subject Prospective Studies
dc.subject Humans
dc.subject Middle Aged
dc.subject Male
dc.subject Risk
dc.subject Bell Palsy/genetics
dc.subject Facial Nerve/pathology
dc.subject Facial Paralysis/genetics
dc.subject Genome-Wide Association Study/methods
dc.subject Inflammation/genetics
dc.subject Adult
dc.subject Female
dc.subject Aged
dc.subject Facial Muscles/pathology
dc.subject Movement/physiology
dc.subject Multidisciplinary
dc.subject 602891
dc.subject 848099
dc.title A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article
dc.description.version Peer reviewed
dc.identifier.doi 10.1038/s41598-021-82736-w
dc.relation.url http://www.scopus.com/inward/record.url?scp=85101028953&partnerID=8YFLogxK
dc.contributor.department Faculty of Medicine
dc.contributor.department Internal Medicine and Emergency Services
dc.contributor.department Other departments
dc.contributor.department Clinical Laboratory Services, Diagnostics and Blood Bank


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