Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture - Sorbonne Université Access content directly
Journal Articles Nature Genetics Year : 2021

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Ruth Chia , Marya Sabir , Sara Bandres-Ciga , Sara Saez-Atienzar , Regina Reynolds , Emil Gustavsson , Ronald Walton , Sarah Ahmed , Coralie Viollet , Jinhui Ding , Mary Makarious , Monica Diez-Fairen , Makayla Portley , Zalak Shah , Yevgeniya Abramzon , Dena Hernandez , Cornelis Blauwendraat , David Stone , John Eicher , Laura Parkkinen , Olaf Ansorge , Lorraine Clark , Lawrence Honig , Karen Marder , Afina Lemstra , Peter St George-Hyslop , Elisabet Londos , Kevin Morgan , Tammaryn Lashley , Thomas Warner , Zane Jaunmuktane , Douglas Galasko , Isabel Santana , Pentti Tienari , Liisa Myllykangas , Minna Oinas , Nigel Cairns , John Morris , Glenda Halliday , Vivianna van Deerlin , John Trojanowski , Maurizio Grassano , Andrea Calvo , Gabriele Mora , Antonio Canosa , Gianluca Floris , Ryan Bohannan , Francesca Brett , Ziv Gan-Or , Joshua Geiger , Anni Moore , Patrick May , Rejko Krüger , David Goldstein , Grisel Lopez , Nahid Tayebi , Ellen Sidransky , Anthony Sotis , Gauthaman Sukumar , Camille Alba , Nathaniel Lott , Elisa Mcgrath Martinez , Meila Tuck , Jatinder Singh , Dagmar Bacikova , Xijun Zhang , Daniel Hupalo , Adelani Adeleye , Matthew Wilkerson , Harvey Pollard , Lucy Norcliffe-Kaufmann , Jose-Alberto Palma , Horacio Kaufmann , Vikram Shakkottai , Matthew Perkins , Kathy Newell , Thomas Gasser , Claudia Schulte , Francesco Landi , Erika Salvi , Daniele Cusi , Eliezer Masliah , Ronald Kim , Chad Caraway , Edwin Monuki , Maura Brunetti , Ted Dawson , Liana Rosenthal , Marilyn Albert , Olga Pletnikova , Juan Troncoso , Margaret Flanagan , Qinwen Mao , Eileen Bigio , Eloy Rodríguez-Rodríguez , Jon Infante , Carmen Lage , Isabel González-Aramburu , Pascual Sanchez-Juan , Bernardino Ghetti , Julia Keith , Sandra Black , Mario Masellis , Ekaterina Rogaeva , Charles Duyckaerts (1) , Alexis Brice (1) , Suzanne Lesage (1) , Georgia Xiromerisiou , Matthew Barrett , Bension Tilley , Steve Gentleman , Giancarlo Logroscino , Geidy Serrano , Thomas Beach , Ian Mckeith , Alan Thomas , Johannes Attems , Christopher Morris , Laura Palmer , Seth Love , Claire Troakes , Safa Al-Sarraj , Angela Hodges , Dag Aarsland , Gregory Klein , Scott Kaiser , Randy Woltjer , Pau Pastor , Lynn Bekris , James Leverenz , Lilah Besser , Amanda Kuzma , Alan Renton , Alison Goate , David Bennett , Clemens Scherzer , Huw Morris , Raffaele Ferrari , Diego Albani , Stuart Pickering-Brown , Kelley Faber , Walter Kukull , Estrella Morenas-Rodriguez , Alberto Lleó , Juan Fortea , Daniel Alcolea , Jordi Clarimon , Mike Nalls , Luigi Ferrucci , Susan Resnick , Toshiko Tanaka , Tatiana Foroud , Neill Graff-Radford , Zbigniew Wszolek , Tanis Ferman , Bradley Boeve , John Hardy , Eric Topol , Ali Torkamani , Andrew Singleton , Mina Ryten , Dennis Dickson , Adriano Chiò , Owen Ross , J. Raphael Gibbs , Clifton Dalgard , Bryan Traynor , Sonja Scholz
Ruth Chia
  • Function : Author
Marya Sabir
  • Function : Author
Sara Bandres-Ciga
  • Function : Author
Sara Saez-Atienzar
  • Function : Author
Regina Reynolds
Emil Gustavsson
Ronald Walton
  • Function : Author
Sarah Ahmed
  • Function : Author
Coralie Viollet
  • Function : Author
Jinhui Ding
  • Function : Author
Mary Makarious
  • Function : Author
Monica Diez-Fairen
Makayla Portley
Zalak Shah
  • Function : Author
Yevgeniya Abramzon
  • Function : Author
Dena Hernandez
  • Function : Author
Cornelis Blauwendraat
David Stone
  • Function : Author
John Eicher
  • Function : Author
Laura Parkkinen
Olaf Ansorge
  • Function : Author
Lorraine Clark
  • Function : Author
Lawrence Honig
  • Function : Author
Karen Marder
  • Function : Author
Afina Lemstra
  • Function : Author
Peter St George-Hyslop
Elisabet Londos
  • Function : Author
Kevin Morgan
Tammaryn Lashley
  • Function : Author
Thomas Warner
  • Function : Author
Zane Jaunmuktane
  • Function : Author
Douglas Galasko
  • Function : Author
Isabel Santana
  • Function : Author
Pentti Tienari
Liisa Myllykangas
  • Function : Author
Minna Oinas
Nigel Cairns
John Morris
  • Function : Author
Glenda Halliday
Vivianna van Deerlin
John Trojanowski
Maurizio Grassano
  • Function : Author
Andrea Calvo
Gabriele Mora
  • Function : Author
Antonio Canosa
  • Function : Author
Gianluca Floris
  • Function : Author
Ryan Bohannan
  • Function : Author
Francesca Brett
  • Function : Author
Ziv Gan-Or
Joshua Geiger
  • Function : Author
Anni Moore
  • Function : Author
Patrick May
Rejko Krüger
  • Function : Author
David Goldstein
  • Function : Author
Grisel Lopez
  • Function : Author
Nahid Tayebi
Ellen Sidransky
  • Function : Author
Anthony Sotis
  • Function : Author
Gauthaman Sukumar
  • Function : Author
Camille Alba
  • Function : Author
Nathaniel Lott
  • Function : Author
Elisa Mcgrath Martinez
  • Function : Author
Meila Tuck
  • Function : Author
Jatinder Singh
  • Function : Author
Dagmar Bacikova
  • Function : Author
Xijun Zhang
  • Function : Author
Daniel Hupalo
  • Function : Author
Adelani Adeleye
  • Function : Author
Matthew Wilkerson
  • Function : Author
Harvey Pollard
  • Function : Author
Lucy Norcliffe-Kaufmann
  • Function : Author
Jose-Alberto Palma
  • Function : Author
Horacio Kaufmann
Vikram Shakkottai
Matthew Perkins
Kathy Newell
  • Function : Author
Thomas Gasser
  • Function : Author
Claudia Schulte
  • Function : Author
Francesco Landi
  • Function : Author
Erika Salvi
  • Function : Author
Daniele Cusi
Eliezer Masliah
  • Function : Author
Ronald Kim
  • Function : Author
Chad Caraway
  • Function : Author
Edwin Monuki
  • Function : Author
Maura Brunetti
  • Function : Author
Ted Dawson
  • Function : Author
Liana Rosenthal
  • Function : Author
Marilyn Albert
  • Function : Author
Olga Pletnikova
  • Function : Author
Juan Troncoso
  • Function : Author
Margaret Flanagan
  • Function : Author
Qinwen Mao
Eileen Bigio
  • Function : Author
Eloy Rodríguez-Rodríguez
Jon Infante
  • Function : Author
Carmen Lage
  • Function : Author
Isabel González-Aramburu
  • Function : Author
Pascual Sanchez-Juan
Bernardino Ghetti
  • Function : Author
Julia Keith
  • Function : Author
Sandra Black
Mario Masellis
  • Function : Author
Ekaterina Rogaeva
  • Function : Author
Georgia Xiromerisiou
  • Function : Author
Matthew Barrett
  • Function : Author
Bension Tilley
  • Function : Author
Steve Gentleman
  • Function : Author
Giancarlo Logroscino
  • Function : Author
Geidy Serrano
  • Function : Author
Thomas Beach
  • Function : Author
Ian Mckeith
  • Function : Author
Alan Thomas
  • Function : Author
Johannes Attems
  • Function : Author
Christopher Morris
  • Function : Author
Laura Palmer
  • Function : Author
Seth Love
  • Function : Author
Claire Troakes
Safa Al-Sarraj
  • Function : Author
Angela Hodges
Dag Aarsland
  • Function : Author
Gregory Klein
  • Function : Author
Scott Kaiser
  • Function : Author
Randy Woltjer
  • Function : Author
Pau Pastor
Lynn Bekris
  • Function : Author
James Leverenz
  • Function : Author
Lilah Besser
  • Function : Author
Amanda Kuzma
  • Function : Author
Alan Renton
Alison Goate
David Bennett
  • Function : Author
Clemens Scherzer
Huw Morris
Raffaele Ferrari
  • Function : Author
Diego Albani
Stuart Pickering-Brown
Kelley Faber
  • Function : Author
Walter Kukull
  • Function : Author
Estrella Morenas-Rodriguez
  • Function : Author
Alberto Lleó
  • Function : Author
Juan Fortea
  • Function : Author
Daniel Alcolea
Jordi Clarimon
  • Function : Author
Mike Nalls
  • Function : Author
Luigi Ferrucci
Susan Resnick
  • Function : Author
Toshiko Tanaka
  • Function : Author
Tatiana Foroud
Neill Graff-Radford
  • Function : Author
Zbigniew Wszolek
  • Function : Author
Tanis Ferman
  • Function : Author
Bradley Boeve
  • Function : Author
John Hardy
  • Function : Author
Eric Topol
Ali Torkamani
  • Function : Author
Andrew Singleton
  • Function : Author
Mina Ryten
Dennis Dickson
  • Function : Author
Adriano Chiò
Owen Ross
J. Raphael Gibbs
Clifton Dalgard
  • Function : Author
Bryan Traynor
  • Function : Author
Sonja Scholz

Abstract

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.

Dates and versions

hal-04563344 , version 1 (29-04-2024)

Identifiers

Cite

Ruth Chia, Marya Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar, Regina Reynolds, et al.. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics, 2021, 53 (3), pp.294-303. ⟨10.1038/s41588-021-00785-3⟩. ⟨hal-04563344⟩
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