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

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

doi:10.1038/s41598-021-82736-w

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

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 HansenHelene 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

^*Corresponding author for this work

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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; N_cases = 4714, N_controls = 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.

Original language	English
Article number	4188
Journal	Scientific Reports
Volume	11
Issue number	1
ISSN	2045-2322
DOIs	https://doi.org/10.1038/s41598-021-82736-w
Publication status	Published - 18 Feb 2021

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Skuladottir et al (2021) A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsyFinal published version, 1.49 MBLicence: CC BY 4.0

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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), Article 4188. https://doi.org/10.1038/s41598-021-82736-w

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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",

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doi = "10.1038/s41598-021-82736-w",

language = "English",

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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

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

PY - 2021/2/18

Y1 - 2021/2/18

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.

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U2 - 10.1038/s41598-021-82736-w

DO - 10.1038/s41598-021-82736-w

M3 - Journal article

C2 - 33602968

AN - SCOPUS:85101028953

SN - 2045-2322

VL - 11

JO - Scientific Reports

JF - Scientific Reports

IS - 1

M1 - 4188

ER -

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

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