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"

Creators

  • 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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