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

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A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy. / Skuladottir, Astros Th; Bjornsdottir, Gyda; Thorleifsson, Gudmar; Walters, G. Bragi; Nawaz, Muhammad Sulaman; Moore, Kristjan Helgi Swerford; Olason, Pall I.; Thorgeirsson, Thorgeir E.; Sigurpalsdottir, Brynja; Sveinbjornsson, Gardar; Eggertsson, Hannes P.; Magnusson, Sigurdur H.; Oddsson, Asmundur; Bjornsdottir, Anna; Vikingsson, Arnor; Sveinsson, Olafur A.; Hrafnsdottir, Maria G.; Sigurdardottir, Gudrun R.; Halldorsson, Bjarni V.; Hansen, Thomas Folkmann; Paarup, Helene; Erikstrup, Christian; Nielsen, Kaspar; Klokker, Mads; Bruun, Mie Topholm; Sorensen, Erik; Banasik, Karina; Burgdorf, Kristoffer S.; Pedersen, Ole Birger; Ullum, Henrik; Jonsdottir, Ingileif; Stefansson, Hreinn; Stefansson, Kari.

In: Scientific Reports, Vol. 11, No. 1, 4188, 12.2021.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Skuladottir, AT, Bjornsdottir, G, Thorleifsson, G, Walters, GB, Nawaz, MS, Moore, KHS, Olason, PI, Thorgeirsson, TE, Sigurpalsdottir, B, Sveinbjornsson, G, Eggertsson, HP, Magnusson, SH, Oddsson, A, Bjornsdottir, A, Vikingsson, A, Sveinsson, OA, Hrafnsdottir, MG, Sigurdardottir, GR, Halldorsson, BV, Hansen, TF, Paarup, H, Erikstrup, C, Nielsen, K, Klokker, M, Bruun, MT, Sorensen, E, Banasik, K, Burgdorf, KS, Pedersen, OB, 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. https://doi.org/10.1038/s41598-021-82736-w

APA

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., ... Stefansson, K. (2021). A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy. Scientific Reports, 11(1), [4188]. https://doi.org/10.1038/s41598-021-82736-w

CBE

Skuladottir AT, Bjornsdottir G, Thorleifsson G, Walters GB, Nawaz MS, Moore KHS, Olason PI, Thorgeirsson TE, Sigurpalsdottir B, Sveinbjornsson G, Eggertsson HP, Magnusson SH, Oddsson A, Bjornsdottir A, Vikingsson A, Sveinsson OA, Hrafnsdottir MG, Sigurdardottir GR, Halldorsson BV, Hansen TF, Paarup H, Erikstrup C, Nielsen K, Klokker M, Bruun MT, Sorensen E, Banasik K, Burgdorf KS, Pedersen OB, 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. 11(1):Article 4188. https://doi.org/10.1038/s41598-021-82736-w

MLA

Vancouver

Skuladottir AT, Bjornsdottir G, Thorleifsson G, Walters GB, Nawaz MS, Moore KHS et al. A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy. Scientific Reports. 2021 Dec;11(1). 4188. https://doi.org/10.1038/s41598-021-82736-w

Author

Skuladottir, Astros Th ; Bjornsdottir, Gyda ; Thorleifsson, Gudmar ; Walters, G. Bragi ; Nawaz, Muhammad Sulaman ; Moore, Kristjan Helgi Swerford ; Olason, Pall I. ; Thorgeirsson, Thorgeir E. ; Sigurpalsdottir, Brynja ; Sveinbjornsson, Gardar ; Eggertsson, Hannes P. ; Magnusson, Sigurdur H. ; Oddsson, Asmundur ; Bjornsdottir, Anna ; Vikingsson, Arnor ; Sveinsson, Olafur A. ; Hrafnsdottir, Maria G. ; Sigurdardottir, Gudrun R. ; Halldorsson, Bjarni V. ; Hansen, Thomas Folkmann ; Paarup, Helene ; Erikstrup, Christian ; Nielsen, Kaspar ; Klokker, Mads ; Bruun, Mie Topholm ; Sorensen, Erik ; Banasik, Karina ; Burgdorf, Kristoffer S. ; Pedersen, Ole Birger ; Ullum, Henrik ; Jonsdottir, Ingileif ; Stefansson, Hreinn ; Stefansson, Kari. / A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy. In: Scientific Reports. 2021 ; Vol. 11, No. 1.

Bibtex

@article{bb0f8e2626784e8598a0a9085e46ea2e,
title = "A meta-analysis uncovers the first sequence variant conferring risk of Bell{\textquoteright}s palsy",
abstract = "Bell{\textquoteright}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{\textquoteright}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.",
author = "Skuladottir, {Astros Th} and Gyda Bjornsdottir and Gudmar Thorleifsson and Walters, {G. Bragi} and Nawaz, {Muhammad Sulaman} and Moore, {Kristjan Helgi Swerford} and Olason, {Pall I.} and Thorgeirsson, {Thorgeir E.} and Brynja Sigurpalsdottir and Gardar Sveinbjornsson and Eggertsson, {Hannes P.} and Magnusson, {Sigurdur H.} and Asmundur Oddsson and Anna Bjornsdottir and Arnor Vikingsson and Sveinsson, {Olafur A.} and Hrafnsdottir, {Maria G.} and Sigurdardottir, {Gudrun R.} and Halldorsson, {Bjarni V.} and Hansen, {Thomas Folkmann} and Helene Paarup and Christian Erikstrup and Kaspar Nielsen and Mads Klokker and Bruun, {Mie Topholm} and Erik Sorensen and Karina Banasik and Burgdorf, {Kristoffer S.} and Pedersen, {Ole Birger} and Henrik Ullum and Ingileif Jonsdottir and Hreinn Stefansson and Kari Stefansson",
note = "Funding Information: 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: {\textcopyright} 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
month = dec,
doi = "10.1038/s41598-021-82736-w",
language = "English",
volume = "11",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "Nature Publishing Group",
number = "1",

}

RIS

TY - JOUR

T1 - A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy

AU - Skuladottir, Astros Th

AU - Bjornsdottir, Gyda

AU - Thorleifsson, Gudmar

AU - Walters, G. Bragi

AU - Nawaz, Muhammad Sulaman

AU - Moore, Kristjan Helgi Swerford

AU - Olason, Pall I.

AU - Thorgeirsson, Thorgeir E.

AU - Sigurpalsdottir, Brynja

AU - Sveinbjornsson, Gardar

AU - Eggertsson, Hannes P.

AU - Magnusson, Sigurdur H.

AU - Oddsson, Asmundur

AU - Bjornsdottir, Anna

AU - Vikingsson, Arnor

AU - Sveinsson, Olafur A.

AU - Hrafnsdottir, Maria G.

AU - Sigurdardottir, Gudrun R.

AU - Halldorsson, Bjarni V.

AU - Hansen, Thomas Folkmann

AU - Paarup, Helene

AU - Erikstrup, Christian

AU - Nielsen, Kaspar

AU - Klokker, Mads

AU - Bruun, Mie Topholm

AU - Sorensen, Erik

AU - Banasik, Karina

AU - Burgdorf, Kristoffer S.

AU - Pedersen, Ole Birger

AU - Ullum, Henrik

AU - Jonsdottir, Ingileif

AU - Stefansson, Hreinn

AU - Stefansson, Kari

N1 - Funding Information: 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). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85101028953&partnerID=8YFLogxK

U2 - 10.1038/s41598-021-82736-w

DO - 10.1038/s41598-021-82736-w

M3 - Journal article

C2 - 33602968

AN - SCOPUS:85101028953

VL - 11

JO - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

IS - 1

M1 - 4188

ER -