Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"

Henne Holstege; Marc Hulsman; Camille Charbonnier; Benjamin Grenier-Boley; Olivier Quenez; Detelina Grozeva; Jeroen G.J. van Rooij; Rebecca Sims; Shahzad Ahmad; Najaf Amin; Penny J. Norsworthy; Oriol Dols-Icardo; Holger Hummerich; Amit Kawalia; Alzheimer's Disease Neuroimaging Initiative (ADNI) database; Philippe Amouyel; Gary W. Beecham; Claudine Berr; Joshua C. Bis; Anne Boland; Paola Bossù; Femke Bouwman; Jose Bras; Dominique Campion; J. Nicholas Cochran; Antonio Daniele; Jean-François Dartigues; Stéphanie Debette; Jean-François Deleuze; Nicola Denning; Anita L DeStefano; Lindsay A. Farrer; Maria Victoria Fernandez; Nick C. Fox; Daniela Galimberti; Emmanuelle Genin; Hans Gille; Yann Le Guen; Rita Guerreiro; Jonathan L. Haines; Clive Holmes; M. Arfan Ikram; M. Kamran Ikram; Iris Jansen; Robert Kraaij; Marc Lathrop; Afina W. Lemstra; Alberto Lleó; Lauren Luckcuck; Marcel M. A. M. Mannens; Rachel Marshall; Eden R Martin; Carlo Masullo; Richard Mayeux; Patrizia Mecocci; Alun Meggy; Merel O. Mol; Kevin Morgan; Richard M. Myers; Benedetta Nacmias; Adam C Naj; Valerio Napolioni; Florence Pasquier; Pau Pastor; Margaret A. Pericak-Vance; Rachel Raybould; Richard Redon; Marcel J.T. Reinders; Anne-Claire Richard; Steffi G Riedel-Heller; Fernando Rivadeneira; Stéphane Rousseau; Natalie S. Ryan; Salha Saad; Pascual Sanchez-Juan; Gerard D. Schellenberg; Philip Scheltens; Jonathan M. Schott; Davide Seripa; Sudha Seshadri; Daoud Sie; Erik Sistermans; Sandro Sorbi; Resie van Spaendonk; Gianfranco Spalletta; Niccólo Tesi; Betty Tijms; André G Uitterlinden; Sven J. van der Lee; Pieter Jelle de Visser; Michael Wagner; David Wallon; Li-San Wang; Aline Zarea; Jordi Clarimon; John C. van Swieten; Michael Greicius; Jennifer S. Yokoyama; Carlos Cruchaga; John Hardy; Alfredo Ramirez; Simon Mead; Wiesje M. van der Flier; Cornelia M van Duijn; Julie Williams; Gaël Nicolas; Céline Bellenguez; Jean-Charles Lambert

doi:10.5281/zenodo.6818051

Published July 11, 2022 | Version 1.0

Dataset Open

Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"

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

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.

Files

Files (3.0 MB)

Name	Size	Download all
AD_burden_summary_stats.tsv md5:39990c9fa4fedc28b09ade076432ff73	3.0 MB	Download

	All versions	This version
Views	1,360	1,358
Downloads	384	382
Data volume	1.2 GB	1.2 GB

Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"

Authors/Creators

Description

Files

Files (3.0 MB)