Literature DB >> 33602968

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

Astros Th Skuladottir1, Gyda Bjornsdottir2, Gudmar Thorleifsson2, G Bragi Walters2,3, Muhammad Sulaman Nawaz2,3, Kristjan Helgi Swerford Moore2, Pall I Olason2, Thorgeir E Thorgeirsson2, Brynja Sigurpalsdottir2,4, Gardar Sveinbjornsson2, Hannes P Eggertsson2, Sigurdur H Magnusson2, Asmundur Oddsson2, Anna Bjornsdottir5, Arnor Vikingsson6, Olafur A Sveinsson6, Maria G Hrafnsdottir6, Gudrun R Sigurdardottir5, Bjarni V Halldorsson2, Thomas Folkmann Hansen7, Helene Paarup8, Christian Erikstrup9, Kaspar Nielsen10, Mads Klokker11, Mie Topholm Bruun8, Erik Sorensen11, Karina Banasik7, Kristoffer S Burgdorf11, Ole Birger Pedersen12, Henrik Ullum11, Ingileif Jonsdottir2,3, Hreinn Stefansson2, Kari Stefansson2,3.   

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.

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Year:  2021        PMID: 33602968      PMCID: PMC7893061          DOI: 10.1038/s41598-021-82736-w

Source DB:  PubMed          Journal:  Sci Rep        ISSN: 2045-2322            Impact factor:   4.379


  47 in total

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Authors:  Daniel F Gudbjartsson; Hannes Helgason; Sigurjon A Gudjonsson; Florian Zink; Asmundur Oddson; Arnaldur Gylfason; Soren Besenbacher; Gisli Magnusson; Bjarni V Halldorsson; Eirikur Hjartarson; Gunnar Th Sigurdsson; Simon N Stacey; Michael L Frigge; Hilma Holm; Jona Saemundsdottir; Hafdis Th Helgadottir; Hrefna Johannsdottir; Gunnlaugur Sigfusson; Gudmundur Thorgeirsson; Jon Th Sverrisson; Solveig Gretarsdottir; G Bragi Walters; Thorunn Rafnar; Bjarni Thjodleifsson; Einar S Bjornsson; Sigurdur Olafsson; Hildur Thorarinsdottir; Thora Steingrimsdottir; Thora S Gudmundsdottir; Asgeir Theodors; Jon G Jonasson; Asgeir Sigurdsson; Gyda Bjornsdottir; Jon J Jonsson; Olafur Thorarensen; Petur Ludvigsson; Hakon Gudbjartsson; Gudmundur I Eyjolfsson; Olof Sigurdardottir; Isleifur Olafsson; David O Arnar; Olafur Th Magnusson; Augustine Kong; Gisli Masson; Unnur Thorsteinsdottir; Agnar Helgason; Patrick Sulem; Kari Stefansson
Journal:  Nat Genet       Date:  2015-03-25       Impact factor: 38.330

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Journal:  Nat Genet       Date:  2018-10-22       Impact factor: 38.330

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4.  Prevalence of concurrent diabetes mellitus and idiopathic facial paralysis (Bell's palsy).

Authors:  K Adour; J Wingerd; H E Doty
Journal:  Diabetes       Date:  1975-05       Impact factor: 9.461

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Authors:  Hyo Geun Choi; Sung Kwang Hong; Su-Kyoung Park; Hyung-Jong Kim; Jiwon Chang
Journal:  Otol Neurotol       Date:  2020-01       Impact factor: 2.311

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Authors:  Reginald F Baugh; Gregory J Basura; Lisa E Ishii; Seth R Schwartz; Caitlin Murray Drumheller; Rebecca Burkholder; Nathan A Deckard; Cindy Dawson; Colin Driscoll; M Boyd Gillespie; Richard K Gurgel; John Halperin; Ayesha N Khalid; Kaparaboyna Ashok Kumar; Alan Micco; Debra Munsell; Steven Rosenbaum; William Vaughan
Journal:  Otolaryngol Head Neck Surg       Date:  2013-11       Impact factor: 3.497

7.  Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Authors:  Karol Estrada; Unnur Styrkarsdottir; Evangelos Evangelou; Yi-Hsiang Hsu; Emma L Duncan; Evangelia E Ntzani; Ling Oei; Omar M E Albagha; Najaf Amin; John P Kemp; Daniel L Koller; Guo Li; Ching-Ti Liu; Ryan L Minster; Alireza Moayyeri; Liesbeth Vandenput; Dana Willner; Su-Mei Xiao; Laura M Yerges-Armstrong; Hou-Feng Zheng; Nerea Alonso; Joel Eriksson; Candace M Kammerer; Stephen K Kaptoge; Paul J Leo; Gudmar Thorleifsson; Scott G Wilson; James F Wilson; Ville Aalto; Markku Alen; Aaron K Aragaki; Thor Aspelund; Jacqueline R Center; Zoe Dailiana; David J Duggan; Melissa Garcia; Natàlia Garcia-Giralt; Sylvie Giroux; Göran Hallmans; Lynne J Hocking; Lise Bjerre Husted; Karen A Jameson; Rita Khusainova; Ghi Su Kim; Charles Kooperberg; Theodora Koromila; Marcin Kruk; Marika Laaksonen; Andrea Z Lacroix; Seung Hun Lee; Ping C Leung; Joshua R Lewis; Laura Masi; Simona Mencej-Bedrac; Tuan V Nguyen; Xavier Nogues; Millan S Patel; Janez Prezelj; Lynda M Rose; Serena Scollen; Kristin Siggeirsdottir; Albert V Smith; Olle Svensson; Stella Trompet; Olivia Trummer; Natasja M van Schoor; Jean Woo; Kun Zhu; Susana Balcells; Maria Luisa Brandi; Brendan M Buckley; Sulin Cheng; Claus Christiansen; Cyrus Cooper; George Dedoussis; Ian Ford; Morten Frost; David Goltzman; Jesús González-Macías; Mika Kähönen; Magnus Karlsson; Elza Khusnutdinova; Jung-Min Koh; Panagoula Kollia; Bente Lomholt Langdahl; William D Leslie; Paul Lips; Östen Ljunggren; Roman S Lorenc; Janja Marc; Dan Mellström; Barbara Obermayer-Pietsch; José M Olmos; Ulrika Pettersson-Kymmer; David M Reid; José A Riancho; Paul M Ridker; François Rousseau; P Eline Slagboom; Nelson L S Tang; Roser Urreizti; Wim Van Hul; Jorma Viikari; María T Zarrabeitia; Yurii S Aulchenko; Martha Castano-Betancourt; Elin Grundberg; Lizbeth Herrera; Thorvaldur Ingvarsson; Hrefna Johannsdottir; Tony Kwan; Rui Li; Robert Luben; Carolina Medina-Gómez; Stefan Th Palsson; Sjur Reppe; Jerome I Rotter; Gunnar Sigurdsson; Joyce B J van Meurs; Dominique Verlaan; Frances M K Williams; Andrew R Wood; Yanhua Zhou; Kaare M Gautvik; Tomi Pastinen; Soumya Raychaudhuri; Jane A Cauley; Daniel I Chasman; Graeme R Clark; Steven R Cummings; Patrick Danoy; Elaine M Dennison; Richard Eastell; John A Eisman; Vilmundur Gudnason; Albert Hofman; Rebecca D Jackson; Graeme Jones; J Wouter Jukema; Kay-Tee Khaw; Terho Lehtimäki; Yongmei Liu; Mattias Lorentzon; Eugene McCloskey; Braxton D Mitchell; Kannabiran Nandakumar; Geoffrey C Nicholson; Ben A Oostra; Munro Peacock; Huibert A P Pols; Richard L Prince; Olli Raitakari; Ian R Reid; John Robbins; Philip N Sambrook; Pak Chung Sham; Alan R Shuldiner; Frances A Tylavsky; Cornelia M van Duijn; Nick J Wareham; L Adrienne Cupples; Michael J Econs; David M Evans; Tamara B Harris; Annie Wai Chee Kung; Bruce M Psaty; Jonathan Reeve; Timothy D Spector; Elizabeth A Streeten; M Carola Zillikens; Unnur Thorsteinsdottir; Claes Ohlsson; David Karasik; J Brent Richards; Matthew A Brown; Kari Stefansson; André G Uitterlinden; Stuart H Ralston; John P A Ioannidis; Douglas P Kiel; Fernando Rivadeneira
Journal:  Nat Genet       Date:  2012-04-15       Impact factor: 38.330

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Journal:  BMJ Open       Date:  2019-06-09       Impact factor: 2.692

9.  Reference-based phasing using the Haplotype Reference Consortium panel.

Authors:  Po-Ru Loh; Petr Danecek; Pier Francesco Palamara; Christian Fuchsberger; Yakir A Reshef; Hilary K Finucane; Sebastian Schoenherr; Lukas Forer; Shane McCarthy; Goncalo R Abecasis; Richard Durbin; Alkes L Price
Journal:  Nat Genet       Date:  2016-10-03       Impact factor: 38.330

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Journal:  Nature       Date:  2018-10-10       Impact factor: 49.962

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1.  A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Authors:  Astros Th Skuladottir; Gyda Bjornsdottir; Egil Ferkingstad; Gudmundur Einarsson; Lilja Stefansdottir; Muhammad Sulaman Nawaz; Asmundur Oddsson; Thorunn A Olafsdottir; Saedis Saevarsdottir; G Bragi Walters; Sigurdur H Magnusson; Anna Bjornsdottir; Olafur A Sveinsson; Arnor Vikingsson; Thomas Folkmann Hansen; Rikke Louise Jacobsen; Christian Erikstrup; Michael Schwinn; Søren Brunak; Karina Banasik; Sisse Rye Ostrowski; Anders Troelsen; Cecilie Henkel; Ole Birger Pedersen; Ingileif Jonsdottir; Daniel F Gudbjartsson; Patrick Sulem; Thorgeir E Thorgeirsson; Hreinn Stefansson; Kari Stefansson
Journal:  Nat Commun       Date:  2022-03-24       Impact factor: 17.694

  1 in total

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