Published July 11, 2022
| Version 1.0
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Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"
Creators
- Henne Holstege1
- Marc Hulsman1
- Camille Charbonnier2
- Benjamin Grenier-Boley3
- Olivier Quenez2
- Detelina Grozeva4
- Jeroen G.J. van Rooij5
- Rebecca Sims4
- Shahzad Ahmad6
- Najaf Amin7
- Penny J. Norsworthy8
- Oriol Dols-Icardo9
- Holger Hummerich8
- Amit Kawalia10
- Alzheimer's Disease Neuroimaging Initiative (ADNI) database11
- Philippe Amouyel3
- Gary W. Beecham12
- Claudine Berr13
- Joshua C. Bis14
- Anne Boland15
- Paola Bossù16
- Femke Bouwman17
- Jose Bras18
- Dominique Campion2
- J. Nicholas Cochran19
- Antonio Daniele20
- Jean-François Dartigues21
- Stéphanie Debette22
- Jean-François Deleuze15
- Nicola Denning23
- Anita L DeStefano24
- Lindsay A. Farrer25
- Maria Victoria Fernandez26
- Nick C. Fox27
- Daniela Galimberti28
- Emmanuelle Genin29
- Hans Gille30
- Yann Le Guen31
- Rita Guerreiro18
- Jonathan L. Haines32
- Clive Holmes33
- M. Arfan Ikram34
- M. Kamran Ikram34
- Iris Jansen35
- Robert Kraaij36
- Marc Lathrop37
- Afina W. Lemstra17
- Alberto Lleó9
- Lauren Luckcuck4
- Marcel M. A. M. Mannens38
- Rachel Marshall4
- Eden R Martin39
- Carlo Masullo40
- Richard Mayeux41
- Patrizia Mecocci42
- Alun Meggy23
- Merel O. Mol43
- Kevin Morgan44
- Richard M. Myers19
- Benedetta Nacmias45
- Adam C Naj46
- Valerio Napolioni47
- Florence Pasquier48
- Pau Pastor49
- Margaret A. Pericak-Vance39
- Rachel Raybould23
- Richard Redon50
- Marcel J.T. Reinders51
- Anne-Claire Richard2
- Steffi G Riedel-Heller52
- Fernando Rivadeneira36
- Stéphane Rousseau2
- Natalie S. Ryan27
- Salha Saad4
- Pascual Sanchez-Juan53
- Gerard D. Schellenberg54
- Philip Scheltens17
- Jonathan M. Schott27
- Davide Seripa55
- Sudha Seshadri56
- Daoud Sie30
- Erik Sistermans30
- Sandro Sorbi45
- Resie van Spaendonk30
- Gianfranco Spalletta57
- Niccólo Tesi1
- Betty Tijms17
- André G Uitterlinden36
- Sven J. van der Lee1
- Pieter Jelle de Visser17
- Michael Wagner58
- David Wallon59
- Li-San Wang54
- Aline Zarea59
- Jordi Clarimon9
- John C. van Swieten43
- Michael Greicius31
- Jennifer S. Yokoyama60
- Carlos Cruchaga26
- John Hardy61
- Alfredo Ramirez62
- Simon Mead8
- Wiesje M. van der Flier17
- Cornelia M van Duijn7
- Julie Williams4
- Gaël Nicolas2
- Céline Bellenguez3
- Jean-Charles Lambert3
- 1. Genomics of Neurodegenerative Diseases and Aging, Department of Human Genetics, Amsterdam University Medical Center (location VUmc), Neuroscience Campus Amsterdam, Amsterdam, The Netherlands; Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands; Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands
- 2. Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, F-76000 Rouen, France
- 3. Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liés au vieillissement, Lille, France
- 4. MRC Centre for Neuropsychiatric Genetics and Genomics, , Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK
- 5. Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands; Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands
- 6. LACDR, Leiden, The Netherlands; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands
- 7. Nuffield Department of Population Health Oxford University; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands
- 8. MRC Prion Unit , UCL Institute of Prion Diseases, London, UK
- 9. Department of Neurology, II B Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain
- 10. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne, Medical Faculty, Cologne, Germany
- 11. ADNI consortium; see supplemental authors
- 12. The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA
- 13. Univ. Montpellier, Inserm U1061, Neuropsychiatry: epidemiological and clinical research, PSNREC, Montpellier, France
- 14. Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
- 15. Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine Evry, France
- 16. Experimental Neuro-psychobiology Laboratory, Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, Rome, Italy
- 17. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands
- 18. Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI USA; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.
- 19. HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
- 20. Department of Neuroscience, Catholic University of Sacred Heart, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
- 21. University Bordeaux, Inserm, Bordeaux Population Health Research Center, France
- 22. University Bordeaux, Inserm, Bordeaux Population Health Research Center, France; Department of Neurology, Bordeaux University Hospital, Bordeaux, France
- 23. UKDRI@ Cardiff, School of Medicine, Cardiff University, Cardiff, UK
- 24. Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; Framingham Heart Study, Framingham, MA, USA.; Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
- 25. Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; Department of Neurology, Boston University School of Medicine, Boston, MA, USA.; Department of Epidemiology, Boston University, Boston, MA, USA; Department of Medicine (Biomedical Genetics), Boston University, Boston, MA, USA
- 26. Neurogenomics and Informatics Center, Washington University School of Medicine, St Louis, MO USA ; Psychiatry Department, Washington University School of Medicine, St Louis, MO; Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, MO
- 27. Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK
- 28. Fondazione IRCCS Ca' Granda, Ospedale Policlinico, Milan, Italy; University of Milan, Milan, Italy
- 29. Univ Brest, Inserm, EFS, CHU Brest, UMR 1078, GGB, F-29200, Brest, France
- 30. Genome Diagnostics, Department of Human Genetics, VU University, AmsterdamUMC (location VUmc), Van Der Boechorststraat 7, 1081 BT Amsterdam
- 31. Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
- 32. Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
- 33. Clinical and Experimental Science, Faculty of Medicine, University of Southampton, Southampton, UK.
- 34. Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands
- 35. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije University, Amsterdam, The Netherlands.
- 36. Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands
- 37. McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada
- 38. Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute Amsterdam
- 39. The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA
- 40. Institute of Neurology, Catholic University of the Sacred Heart , Rome, Itlay
- 41. Taub Institute on Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University, New York, New York, USA; Gertrude H. Sergievsky Center, Columbia University, New York, New York,
- 42. Institute of Gerontology and Geriatrics, Department of Medicine and Surgery, University of Perugia, Perugia, Italy
- 43. Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands
- 44. Human Genetics, School of Life Sciences, University of Nottingham, UK
- 45. Department of Neuroscience, Psychology, Drug Research and Child Health University of Florence, Florence Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy
- 46. Penn Neurodegeneration Genomics Center, Department of Biostatistics, Epidemiology, and Informatics; University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania,; Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania,
- 47. Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.; Genomic And Molecular Epidemiology (GAME) Lab, School of Biosciences and Veterinary Medicine, University of Camerino (UNICAM) Camerino, 62032, Italy
- 48. Univ. Lille, Inserm, CHU Lille, UMR1172, Resources and Research Memory Center (MRRC) of Distalz, Licend, Lille France
- 49. Fundació Docència i Recerca MútuaTerrassa and Movement Disorders Unit, Department of Neurology, University Hospital MútuaTerrassa, Barcelona, Spain; Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain.
- 50. Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France
- 51. Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands
- 52. Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig, Leipzig, Germany.
- 53. CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain; Neurology Service, Marqués de Valdecilla University Hospital (University of Cantabria and IDIVAL), Santander, Spain.
- 54. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania,
- 55. Laboratory for Advanced Hematological Diagnostics, Department of Hematology and Stem Cell Transplant, Lecce, Italy
- 56. Framingham Heart Study, Framingham, MA, USA.; Department of Neurology, Boston University School of Medicine, Boston, MA, USA.; Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX, USA
- 57. Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, Rome, Italy
- 58. Department of Neurodegeneration and Geriatric Psychiatry, University of Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases (DZNE, Bonn), Bonn, Germany.
- 59. Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Neurology and CNR-MAJ, F-76000 Rouen, France
- 60. Memory and Aging Center, Department of Neurology, University of California, San Francisco, CA USA
- 61. Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
- 62. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne, Medical Faculty, Cologne, Germany; Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX, USA; Department of Neurodegeneration and Geriatric Psychiatry, University of Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases (DZNE, Bonn), Bonn, Germany.; Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
Description
These are the burden test results (summary statistics) for the publication:
"Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s Disease",
Nature Genetics, 2022.
Format: tab-separated-value.
Fields:
- gene_stable_id: Ensembl gene id
- gene_name: standard gene name
- pvalue: burden test significance (likelihood ratio test, population structure correction based on 6 PCA components)
- cmac_all: sum of minor allele dosages across all contributing samples and variants
- group: variant group (LOF, LOF+REVEL>=75, LOF+REVEL>=50, LOF+REVEL>=25, see publication methods for further selection criteria).
- beta/se: beta/se of logistic ordinal regression (see publication methods). Positive = risk-increasing. Negative = risk-decreasing.
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