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

dc.contributor.authorSkuladottir, Astros Th
dc.contributor.authorBjornsdottir, Gyda
dc.contributor.authorThorleifsson, Gudmar
dc.contributor.authorWalters, G. Bragi
dc.contributor.authorNawaz, Muhammad Sulaman
dc.contributor.authorMoore, Kristjan Helgi Swerford
dc.contributor.authorOlason, Pall I.
dc.contributor.authorThorgeirsson, Thorgeir E.
dc.contributor.authorSigurpalsdottir, Brynja
dc.contributor.authorSveinbjornsson, Gardar
dc.contributor.authorEggertsson, Hannes P.
dc.contributor.authorMagnusson, Sigurdur H.
dc.contributor.authorOddsson, Asmundur
dc.contributor.authorBjornsdottir, Anna
dc.contributor.authorVikingsson, Arnor
dc.contributor.authorSveinsson, Olafur A.
dc.contributor.authorHrafnsdottir, Maria G.
dc.contributor.authorSigurdardottir, Gudrun R.
dc.contributor.authorHalldorsson, Bjarni V.
dc.contributor.authorHansen, Thomas Folkmann
dc.contributor.authorPaarup, Helene
dc.contributor.authorErikstrup, Christian
dc.contributor.authorNielsen, Kaspar
dc.contributor.authorKlokker, Mads
dc.contributor.authorBruun, Mie Topholm
dc.contributor.authorSorensen, Erik
dc.contributor.authorBanasik, Karina
dc.contributor.authorBurgdorf, Kristoffer S.
dc.contributor.authorPedersen, Ole Birger
dc.contributor.authorUllum, Henrik
dc.contributor.authorJonsdottir, Ingileif
dc.contributor.authorStefansson, Hreinn
dc.contributor.authorStefansson, Kari
dc.contributor.departmentFaculty of Medicine
dc.date.accessioned2025-11-20T08:19:10Z
dc.date.available2025-11-20T08:19:10Z
dc.date.issued2021-02-18
dc.descriptionWe 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).en
dc.description.abstractBell’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.en
dc.description.versionPeer revieweden
dc.format.extent1563815
dc.format.extent4188
dc.identifier.citationSkuladottir, 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-wen
dc.identifier.doi10.1038/s41598-021-82736-w
dc.identifier.issn2045-2322
dc.identifier.other36965801
dc.identifier.other10d9fef1-2dca-456b-9445-bf4a7fc8f0e2
dc.identifier.other85101028953
dc.identifier.other33602968
dc.identifier.other000621416400061
dc.identifier.otherunpaywall: 10.1038/s41598-021-82736-w
dc.identifier.urihttps://hdl.handle.net/20.500.11815/6270
dc.language.isoen
dc.relationinfo:eu-repo/grantAgreement/EC/FP7/
dc.relationinfo:eu-repo/grantAgreement/EC/FH2020/
dc.relation.ispartofseriesScientific Reports; 11(1)en
dc.relation.urlhttps://www.scopus.com/pages/publications/85101028953en
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.subjectBall's Palsyen
dc.subjectProspective Studiesen
dc.subjectHumansen
dc.subjectMiddle Ageden
dc.subjectMaleen
dc.subjectRisken
dc.subjectBell Palsy/geneticsen
dc.subjectFacial Nerve/pathologyen
dc.subjectFacial Paralysis/geneticsen
dc.subjectGenome-Wide Association Study/methodsen
dc.subjectInflammation/geneticsen
dc.subjectAdulten
dc.subjectFemaleen
dc.subjectAgeden
dc.subjectFacial Muscles/pathologyen
dc.subjectMovement/physiologyen
dc.subjectMultidisciplinaryen
dc.subject602891en
dc.subject848099en
dc.titleA meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsyen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/articleen

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