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

Autor: Thorgeir E. Thorgeirsson, Sigurdur H. Magnusson, Helene M. Paarup, Astros Skuladottir, Erik Elgaard Sørensen, Olafur A. Sveinsson, Gardar Sveinbjornsson, Brynja D. Sigurpalsdottir, Hreinn Stefansson, Christian Erikstrup, Muhammad Sulaman Nawaz, Gyda Bjornsdottir, Maria Gudlaug Hrafnsdottir, Gudrun R. Sigurdardottir, Pall I. Olason, G. Bragi Walters, Mie Topholm Bruun, Ingileif Jonsdottir, Thomas Hansen, Gudmar Thorleifsson, Bjarni V. Halldorsson, Kristoffer Sølvsten Burgdorf, Anna Bjornsdottir, Ole Birger Pedersen, Karina Banasik, Asmundur Oddsson, Henrik Ullum, Mads Klokker, Kari Stefansson, Kaspar René Nielsen, Arnor Vikingsson, Hannes P. Eggertsson, Kristjan H. S. Moore
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports
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 . https://doi.org/10.1038/s41598-021-82736-w
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, 4188 . https://doi.org/10.1038/s41598-021-82736-w
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, Sørensen, 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 . https://doi.org/10.1038/s41598-021-82736-w
ISSN: 2045-2322
DOI: 10.1038/s41598-021-82736-w
Popis: 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.
Databáze: OpenAIRE
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