OSCR

GWAS meta-analysis of cerebrospinal fluid Alzheimer's biomarkers reveals loci regulating lipids, brain volume and autophagy.

Code ↔ Paper

7 matches between paragraphs of the paper and lines of its authors' code, computed by the harvester (lexical-v1). Click a colored paragraph or line to see its counterpart.

The 7 matches · 5 of them tie a paragraph to a whole file, not to given lines: weak matches, whose lines are not tinted
  1. [1] § Methods › Statistical analysis › Mendelian randomization ↔ Mandelian_Randomization.R, the whole file · a weak match · score 0.95 · MR Egger intercept, Inverse Variance Weighted, rsID, Weighted Median, Weighted Mode, clumped
  2. [2] § Methods › Statistical analysis › Colocalization ↔ Colocalization.R, the whole file · a weak match · score 0.85 · coloc.abf, QTL summary statistics, eQTL, lead variants, Colocalization, GTEx
  3. [3] § Results › CSF Aβ42 is causally associated with increased risk of AD ↔ Mandelian_Randomization.R, the whole file · a weak match · score 0.82 · Inverse Variance Weighted, MR Egger, Weighted Median, Weighted Mode, exposure, randomization
  4. [4] § Methods › Statistical analysis › Comparison with other AD-related endophenotypes ↔ GWAS_catalog_Search.R, the whole file · a weak match · score 0.60 · get_associations, GWAS catalog, metadata, lead variants, queried, risk
  5. [5] § Methods › Statistical analysis › Gene prioritization ↔ Colocalization.R, the whole file · a weak match · score 0.60 · QTL summary statistics, lead variant, Mb, downstream, colocalized, locus
  6. [6] § Methods › Genotyping and quality control ↔ ldscore/ldscore.py, lines 304–357 · score 0.57 · removed SNPs, allele frequency, Genotyping, kept, PLINK, filter
  7. [7] § Methods › Genotyping and quality control ↔ munge_sumstats.py, lines 56–144 · score 0.52 · imputation quality, allele frequency, MAF, Genotyping, SNPs, variants

Paper

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The authors' code

R · 32 lines · 2.1 KB · no license · 2 matches

  1. rm(list = ls())
  2. library(TwoSampleMR) #v0.6.21
  3. library(ieugwasr)
  4. ab42_input <- read_exposure_data('Summary stats file with rsID', sep = '\t', snp_col = 'rsID', beta_col = 'Beta', se_col = 'SE', effect_allele_col = 'effect_allele', other_allele_col = 'other_allele', pval_col = 'P')
  5. ##try to subset to genome-wide variants and try again
  6. ab42_input_sub <- ab42_input[ab42_input$pval.exposure < 5e-8,]
  7. ##now reclump
  8. ab42_clumped <- clump_data(ab42_input_sub)
  9. ##succeeded, 6 variants remain after clumping: "rs3818361" "rs8106813" "rs117310449" "rs6733839" "rs73558179" "rs12972970"
  10. ##now import outcome data
  11. ad_output <- read_outcome_data('Bellenguez_etal_2022/GRCh38/GCST90027158_buildGRCh38.tsv.gz', snps = ab42_clumped$SNP, sep = '\t', snp_col = 'variant_id', beta_col = 'beta', se_col = 'standard_error', effect_allele_col = 'effect_allele', other_allele_col = 'other_allele', eaf_col = 'effect_allele_frequency', pval_col = 'p_value') ##5 variants overlapping between datasets
  12. ab42_harmonised <- harmonise_data(exposure_dat = ab42_clumped, outcome_dat = ad_output)
  13. ab42_harmonised
  14. ab42_mr_output <- mr(ab42_harmonised)
  15. ab42_mr_output
  16. # id.exposure id.outcome outcome exposure method nsnp b se pval
  17. #1 8ouM9e SzfNwa outcome exposure MR Egger 5 -1.477011 0.3857676 3.138679e-02
  18. #2 8ouM9e SzfNwa outcome exposure Weighted median 5 -1.804159 0.1374088 2.220508e-39
  19. #3 8ouM9e SzfNwa outcome exposure Inverse variance weighted 5 -1.806293 0.2178966 1.135503e-16
  20. #4 8ouM9e SzfNwa outcome exposure Simple mode 5 -1.764206 0.2035272 9.746752e-04
  21. #5 8ouM9e SzfNwa outcome exposure Weighted mode 5 -1.798011 0.1861702 6.429873e-04
  22. egger_intercept <- mr_pleiotropy_test(ab42_harmonised) ##p = 0.3785061, not evidence for pleiotropy
  23. write.table(ab42_mr_output, 'output file name', quote = F, row.names = F, sep = '\t')
  24. tiff('ab42_mr_plot.tiff', width = 5, height = 5, units = 'in', compression = 'lzw', res = 300)
  25. mr_scatter_plot(ab42_mr_output, ab42_harmonised)
  26. dev.off()

Mandelian_Randomization.R at commit 3515bb2, no license · at the source

Overview

Authors: Jigyasha Timsina1,2, Chenyang Jiang3,4, Daniel L McCartney5, Feifei Tao6, Maria Carolina Dalmasso7,8, Jenna Najar3,4,9, Federica Anastasi10,11,12, Olena Ohlei13, Raquel Puerta Fuentes14, Chenyu Yang2,15, Joseph Bradley1,2, Daniel Western1,2, Muhammad Ali1,2, Ciyang Wang1,2, Chengran Yang1,2, Ying Wu6, Menghan Liu1,2, John Budde1,2, Julie Williams16, Rebecca Mahoney16
and 135 other authorsAtahualpa Castillo Morales16, Timothy J Hohman17, Logan Dumitrescu17, Ting-Chen Wang17, Niccolo’ Tesi3,4,18, Silke Kern19,20, Margda Waern19, Ingmar Skoog19,20, Argonde van Harten3,4, Yolande A L Pijnenburg3,4, Wiesje M van der Flier3,4, Pascual Sánchez-Juan21, Eloy Rodriguez-Rodriguez22,23, Luca Kleineidam24,25, Oliver Peters26,27, Anja Schneider24,25, Fahri Küçükali28,29, Céline Bellenguez30, Benjamin Grenier-Boley30, Sami Heikkinen31, Itziar de Rojas14,22, Dan Rujescu32, Norbert Scherbaum33, Lucrezia Hausner34, Emrah Düzel35,36, Timo Grimmer37, Jens Wiltfang38,39,40, Rik Vandenberghe41, Sebastiaan Engelborghs28,42, Stefanie Heilmann-Heimbach43, Matthias Schmid25,44, Thomas Tegos45, Nikolaos Scarmeas46,47, Oriol Dols-Icardo22,48, Fermin Moreno22,49,50, Jordi Pérez-Tur22,51, María J Bullido22,52,53,54, Raquel Sánchez-Valle55, Victoria Álvarez56,57, Pablo García-González14, Pablo Mir22,58, Luis M Real59,60, Gerard Piñol-Ripoll61,62, Jose María García-Alberca22,62,63, Harro Seelaar4, Inez Ramakers64, Janne Papma65,66, Marc Hulsman3,4,67, Christoph Laske68,69, Stefan Teipel70,71, Josef Priller26,72,73, Robert Perneczky74,75,76,77, Katharina Buerger74,78, Markus M Nöthen79, Piotr Lewczuk80,81, Johannes Kornhuber80, Harald Hampel82, Ina Giegling83, Oliver Goldhardt38, Janine Diehl-Schmid38, Victor Andrade7,84, Michael MT Heneka7,25, Lutz Frölich34, Jonathan Vogelgsang38,85, Caroline Graff86,87, Hakan Thonberg86,87, Abbe Ullgren86,87, Goran Papenberg88, Jean-François Deleuze89, Carole Dufouil90,91, Michael Wagner24,25, Frank Jessen25,92,93, Henne Holstege3,4,67,94, Cornelia van Duijn95,96,97, Thibaud Lebouvier98, Olivier Hannon99, Ville Leinonen100, Hilkka Soininen101, Sanna-Kaisa Herukka101,102, Vilmantas Giedraitis103, Malin Löwenmark103, Lena Kilander103, Patricia Genius10,11,12, Blanca Rodríguez10,11,12, Emma S Luckett104,105,106,107, Arcadi Navarro10,11,108,109, Amanda Cano14,22, Marta Marquié14,22, Kaj Blennow110,111, Henrik Zetterberg110,112,113, Alberto Lleo22,48, Mercè Boada14,22, Agustin Ruiz14,22,114, Virginia Man-Yee Lee115, Vivianna M Van Deerlin115, Yuetiva Deming113,116, Sterling C Johnson116, Corinne D Engelman117, Pau Pastor118, Ignacio Alvarez118, Elaine R Peskind119,120, Amanda J Heslegrave112,121, Andrew J Saykin122, Kwangsik Nho122, Suzanne E Schindler15,123,124, John C Morris15, David M Holtzman15, Eric McDade15, Alan E Renton125,126,127, Alison Goate125,126, Laura Ibanez1,2,124, Matthias Riemenschneider128, Marilyn S Albert129, Simon M Laws130, Tenielle Porter130, Eleanor K O’Brien130, Leslie M Shaw114, Betty M Tijms3,4, Martin Ingelsson131,132,133, Pieter Jelle Visser134,135,136, Mikko Hiltunen31, Kristel Sleegers28,29, Craig W Ritchie137,138, Rebecca Sims139, Michael Belloy2,15, Jean-Charles Lambert30, Natalia Vilor-Tejedor10,11,12,140, Maria Victoria Fernández14, Qingqin S Li141,142,143, Michael W Nagle6, Riccardo E Marioni5, Alfredo Ramirez7,24,25,144,145, Lars Bertram13, Sven J van der Lee3,4,146, Carlos Cruchaga1,2,124
ORCID iDs: Jigyasha Timsina, Maria Carolina Dalmasso, Jenna Najar, Federica Anastasi, Raquel Puerta Fuentes, Joseph Bradley, Daniel Western, Muhammad Ali, Ciyang Wang, Chengran Yang, Menghan Liu, John Budde, Julie Williams, Timothy J Hohman, Logan Dumitrescu, Niccolo’ Tesi, Margda Waern, Wiesje M van der Flier, Eloy Rodriguez-Rodriguez, Luca Kleineidam, Oliver Peters, Fahri Küçükali, Céline Bellenguez, Sami Heikkinen, Itziar de Rojas, Dan Rujescu, Norbert Scherbaum, Lucrezia Hausner, Jens Wiltfang, Sebastiaan Engelborghs, Stefanie Heilmann-Heimbach, Matthias Schmid, Oriol Dols-Icardo, Fermin Moreno, Jordi Pérez-Tur, María J Bullido, Victoria Álvarez, Pablo García-González, Pablo Mir, Luis M Real, Jose María García-Alberca, Harro Seelaar, Marc Hulsman, Josef Priller, Robert Perneczky, Markus M Nöthen, Piotr Lewczuk, Johannes Kornhuber, Harald Hampel, Ina Giegling, Oliver Goldhardt, Lutz Frölich, Jonathan Vogelgsang, Caroline Graff, Jean-François Deleuze, Carole Dufouil, Michael Wagner, Henne Holstege, Cornelia van Duijn, Ville Leinonen, Hilkka Soininen, Kaj Blennow, Henrik Zetterberg, Alberto Lleo, Mercè Boada, Agustin Ruiz, Virginia Man-Yee Lee, Vivianna M Van Deerlin, Sterling C Johnson, Pau Pastor, Ignacio Alvarez, Andrew J Saykin, Suzanne E Schindler, David M Holtzman, Eric McDade, Alan E Renton, Alison Goate, Simon M Laws, Tenielle Porter, Eleanor K O’Brien, Betty M Tijms, Martin Ingelsson, Pieter Jelle Visser, Mikko Hiltunen, Rebecca Sims, Michael Belloy, Jean-Charles Lambert, Natalia Vilor-Tejedor, Qingqin S Li, Michael W Nagle, Riccardo E Marioni, Alfredo Ramirez, Lars Bertram, Sven J van der Lee, Carlos Cruchaga
146 affiliations
  1. Department of Psychiatry, Washington University School of Medicine, St. Louis, MO USA
  2. NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO USA
  3. Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands
  4. Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
  5. Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK
  6. Human Genetics and Causal Biology, Eisai Center for Genetics-Guided Dementia Discovery, Eisai Inc, Cambridge, MA USA
  7. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
  8. Estudios en Neurociencias y Sistemas Complejos (ENyS), CONICET-HEC-UNAJ, Buenos Aires, Argentina
  9. Department of Psychiatry and Neurochemistry, Institute of Neuroscience and physiology, the Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
  10. Barcelonaβeta Brain Research Center (BBRC), Pasqual Maragall Foundation, Barcelona, Spain
  11. Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain
  12. Hospital del Mar Research Institute, Barcelona, Spain
  13. Lübeck Interdisciplinary Platform for Genome Analytics, University of Lübeck, Lübeck, Germany
  14. Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain
  15. Department of Neurology, Washington University School of Medicine, St. Louis, MO USA
  16. UK Dementia Research Institute at Cardiff, Cardiff, UK
  17. Vanderbilt Memory and Alzheimer’s Center, Vanderbilt University Medical Center, Nashville, TN USA
  18. Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands
  19. Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy, Centre for Ageing and Health (AGECAP) at the University of Gothenburg, Gothenburg, Sweden
  20. Department of Neuropsychiatry, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden
  21. Reina Sofia Alzheimer Center, CIEN Foundation, ISCIII, Madrid, Spain
  22. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain
  23. Neurology Service, Marqués de Valdecilla University Hospital, Santander, Spain
  24. Department of Cognitive Disorders and Old Age Psychiatry, University Hospital Bonn, Bonn, Germany
  25. German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany
  26. German Center for Neurodegenerative Diseases (DZNE), Berlin, Germany
  27. Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Psychiatry and Psychotherapy, Berlin, Germany
  28. Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
  29. Complex Genetics of Alzheimer’s Disease Lab, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
  30. Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ-U1167-RID-AGE Facteurs de Risque et Determiants moléculaires des maladies liées au vieillissement, Lille, France
  31. Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland
  32. Martin-Luther-University Halle-Wittenberg, University Clinic and Outpatient Clinic for Psychiatry, Psychotherapy and Psychosomatics, Halle (Saale), Germany
  33. LVR-University Hospital Essen, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Duisburg-Essen, Essen, Germany
  34. Department of Geriatric Psychiatry, Central Institute for Mental Health Mannheim, Faculty Mannheim, University of Heidelberg, Heidelberg, Germany
  35. German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany
  36. Institute of Cognitive Neurology and Dementia Research (IKND), Otto-von-Guericke University, Magdeburg, Germany
  37. Center for Cognitive Disorders, Department of Psychiatry and Psychotherapy, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany
  38. Department of Psychiatry and Psychotherapy, University Medical Center Goettingen, Goettingen, Germany
  39. German Center for Neurodegenerative Diseases (DZNE), Goettingen, Germany
  40. Medical Science Department, iBiMED, Aveiro, Portugal
  41. Department of Neurology, UZ Leuven, Leuven, Belgium
  42. Department of Neurology, Universitair Ziekenhuis Brussel and Neuroprotection and Neuromodulation (NEUR) Research Group, Center for Neurosciences (C4N), Vrije Universiteit Brussel (VUB), Brussels, Belgium
  43. Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany
  44. Institute of Medical Biometry, Informatics and Epidemiology, University Hospital of Bonn, Bonn, Germany
  45. 1st Department of Neurology, Medical school, Aristotle University of Thessaloniki, Thessaloniki, Greece
  46. 1st Department of Neurology, Aiginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece
  47. Depatment of Neurology, Columbia University, New York, NY USA
  48. Sant Pau Memory Unit, Institut de Recerca Sant Pau, Department of Neurology, Hospital de la Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
  49. Department of Neurology, Hospital Universitario Donostia, San Sebastian, Spain
  50. Neurosciences Area, Instituto Biodonostia, San Sebastian, Spain
  51. Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, Valencia, Spain
  52. Centro de Biología Molecular Severo Ochoa (UAM-CSIC), Madrid, Spain
  53. Instituto de Investigacion Sanitaria ‘Hospital la Paz’ (IdIPaz), Madrid, Spain
  54. Universidad Autónoma de Madrid, Madrid, Spain
  55. Alzheimer’s disease and other cognitive disorders unit. Service of Neurology. Hospital Clínic of Barcelona. Institut d’Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona, Spain
  56. Laboratorio de Genética. Hospital Universitario Central de Asturias, Oviedo, Spain
  57. Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Av. del Hospital Universitario, Asturias, Spain
  58. Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología. Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain
  59. Unidad Clínica de Enfermedades Infecciosas y Microbiología. Hospital Universitario de Valme, Sevilla, Spain
  60. Depatamento de Especialidades Quirúrgicas, Bioquímica e Inmunología. Facultad de Medicina. Universidad de Málaga, Málaga, Spain
  61. Unitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida, Lleida, Spain
  62. Institut de Recerca Biomedica de Lleida (IRBLLeida), Lleida, Spain
  63. Alzheimer Research Center & Memory Clinic, Andalusian Institute for Neuroscience, Málaga, Spain
  64. Maastricht University, Department of Psychiatry & Neuropsychologie, Alzheimer Center Limburg, Maastricht, the Netherlands
  65. Neurology department Erasmus MC University Medical Center, Rotterdam, The Netherlands
  66. Internal Medicine Department, Erasmus MC University Medical Center, Rotterdam, The Netherlands
  67. Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, The Netherlands
  68. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
  69. Section for Dementia Research, Hertie Institute for Clinical Brain Research and Department of Psychiatry and Psychotherapy, University of Tübingen, Tübingen, Germany
  70. German Center for Neurodegenerative Diseases (DZNE), Rostock, Germany
  71. Department of Psychosomatic Medicine, Rostock University Medical Center, Rostock, Germany
  72. Department of Psychiatry and Psychotherapy, Charité – Universitätsmedizin Berlin, Berlin, Germany
  73. Department of Psychiatry and Psychotherapy, Klinikum rechts der Isar Technical University Munich, Munich, Germany
  74. German Center for Neurodegenerative Diseases (DZNE Munich), Munich, Germany
  75. Department of Psychiatry and Psychotherapy, University Hospital, LMU Munich, Munich, Germany
  76. Munich Cluster for Systems Neurology (SyNergy) Munich, Munich, Germany
  77. Ageing Epidemiology Research Unit, School of Public Health, Imperial College London, London, UK
  78. Institute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, Munich, Germany
  79. Institute of Human Genetics; University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany
  80. Department of Psychiatry and Psychotherapy, Universitätsklinikum Erlangen, and Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany
  81. Department of Neurodegeneration Diagnostics, Medical University of Białystok, Białystok, Poland
  82. Sorbonne University, Alzheimer Precision Medicine (APM), AP-HP, Pitié-Salpêtrière Hospital, Boulevard de l’hôpital, Paris, France
  83. Division of General Psychiatry, Dept. of Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria
  84. Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Hospital Bonn, Medical Faculty, Bonn, Germany
  85. Department of Psychiatry, Harvard Medical School McLean Hospital, Belmont, MA USA
  86. Division of Neurogeriatrics, Department NVS, Karolinska Institutet, Center for Alzheimer Research, Stockholm, Sweden
  87. Unit for Hereditary Dementias, Karolinska University Hospital-Solna, Stockholm, Sweden
  88. Aging Research Center, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet and Stockholm University, Stockholm, Sweden
  89. Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry, France
  90. Inserm, Bordeaux Population Health Research Center, UMR 1219, Univ. Bordeaux, ISPED, CIC 1401-EC, Univ Bordeaux, Bordeaux, France
  91. CHU de Bordeaux, Pole santé publique, Bordeaux, France
  92. Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
  93. Cluster of Excellence Cellular Stress Responses in Aging-associated Diseases (CECAD), University of Cologne, Cologne, Germany
  94. Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium
  95. Department of Epidemiology, ErasmusMC, Rotterdam, The Netherlands
  96. Nuffield Department of Population Health, University of Oxford, Oxford, UK
  97. Centre for Artificial Intelligence in Precision Medicine, University of Oxford, Oxford, UK
  98. Univ.Lille, Inserm, CHULille, Lille Neuroscience & Cognition, UMR-S1172, Lille, France
  99. Université de Paris, EA 4468, APHP, Hôpital Broca, Paris, France
  100. Department of Neurosurgery, Kuopio University Hospital and Institute of Clinical Medicine-Neurosurgery, University of Eastern Finland, Kuopio, Finland
  101. Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland
  102. Department of Neurology, NeuroCenter, Kuopio University Hospital, Kuopio, Finland
  103. Department of Public Health and Caring Sciences/Clinical Geriatrics, Uppsala University, Uppsala, Sweden
  104. Department of Radiology and Nuclear Medicine, Amsterdam UMC location VUmc, Amsterdam, Netherlands
  105. Amsterdam Neuroscience, Brain Imaging, Amsterdam, The Netherlands
  106. Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium
  107. Laboratory for Complex Genetics, KU Leuven, Leuven, Belgium
  108. Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
  109. Department of Experimental and Health Sciences, Institute of Evolutionary Biology (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain
  110. Clinical neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden
  111. Paris Brain Institute, ICM, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France
  112. UK Dementia Research Institute at UCL, London, UK
  113. Wisconsin Alzheimer’s Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI USA
  114. Glenn Biggs Institute for Alzheimer’s & Neurodegenerative Diseases and Department of Microbiology, Immunology and Molecular Genetics, Long School of Medicine, University of Texas Health Science Center, San Antonio, TX USA
  115. Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA
  116. Department of Medicine, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI USA
  117. Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI USA
  118. Unit of Neurodegenerative diseases, Department of Neurology, University Hospital Germans Trias i Pujol and The Germans Trias i Pujol Research Institute (IGTP) Badalona, Barcelona, Spain
  119. Veterans Affairs Northwest Mental Illness Research, Education, and Clinical Center, Seattle, WA USA
  120. Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA USA
  121. Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK
  122. Indiana Alzheimer’s Disease Research Center, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, Indiana, USA
  123. Department of Genetics, Washington University School of Medicine, St. Louis, MO USA
  124. Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO USA
  125. Ronald M. Loeb Center for Alzheimer’s Disease, Icahn School of Medicine at Mount Sinai, New York, NY USA
  126. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY USA
  127. Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY USA
  128. Department of Psychiatry, Saarland University, Homburg, Germany
  129. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD USA
  130. Centre for Precision Health, School of Medical Health Sciences, Edith Cowan University, Joondalup, WA Australia
  131. Krembil Brain Institute, University Health Network, Toronto, ON Canada
  132. Tanz Centre for Research in Neurodegenerative Diseases, Departments of Medicine and Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON Canada
  133. Department of Public Health and Caring Sciences, Molecular Geriatrics, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
  134. Department of Neurology, Alzheimer Center Amsterdam, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, VUmc, Amsterdam, the Netherlands
  135. Department of Neurobiology, Care Sciences and Society, Division of Neurogeriatrics, Karolinska Institutet, Stockholm, Sweden
  136. Alzheimer Center Limburg, School for Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands
  137. Scottish Brain Sciences, Scottish Gas Murrayfield Stadium, Edinburgh, UK
  138. School of Medicine, University of St Andrews, St Andrews, UK
  139. Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK
  140. Department of Human Genetics, Radboud University Medical Center, Nijgmegen, the Netherlands
  141. Neuroscience, Janssen Research & Development LLC, Titusville, NJ USA
  142. JRD Data Science, Janssen Research & Development LLC, Titusville, NJ USA
  143. CHDI Management Inc., Princeton, NJ USA
  144. Department of Psychiatry, Glenn Biggs Institute for Alzheimer’s and Neurodegenerative Diseases, San Antonio, TX USA
  145. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Disease (CECAD), University of Cologne, Cologne, Germany
  146. Section Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, The Netherlands
Institutions: Washington University in St. Louis (United States); Amsterdam Neuroscience (Netherlands); Amsterdam UMC Location Vrije Universiteit Amsterdam (Netherlands); Institute of Genetics and Cancer (United Kingdom); University of Edinburgh (United Kingdom); Eisai (United States) (United States); Consejo Nacional de Investigaciones Científicas y Técnicas (Argentina); University of Cologne (Germany); Universidad Nacional Arturo Jauretche (Argentina); University Hospital Cologne (Germany); University of Gothenburg (Sweden); Pasqual Maragall Foundation (Spain); Barcelonaβeta Brain Research Center (Spain); Barcelona Institute of Science and Technology (Spain); Centre for Genomic Regulation (Spain); Hospital del Mar Research Institute (Spain); University of Lübeck (Germany); Universitat Internacional de Catalunya (Spain); UK Dementia Research Institute (United Kingdom); Vanderbilt University Medical Center (United States); Delft University of Technology (Netherlands); Sahlgrenska University Hospital (Sweden); Region Västra Götaland (Sweden); Instituto de Salud Carlos III (Spain); Fundacion Centro De Investigacion De Enfermedades Neurologicas (Spain); Biomedical Research Networking Center on Neurodegenerative Diseases (Spain); Marqués de Valdecilla University Hospital (Spain); Centro de Investigación Biomédica en Red (Spain); University of Bonn (Germany); University Hospital Bonn (Germany); German Center for Neurodegenerative Diseases (Germany); Humboldt-Universität zu Berlin (Germany); Charité - Universitätsmedizin Berlin (Germany); University of Antwerp (Belgium); VIB-UAntwerp Center for Molecular Neurology (Belgium); Inserm (France); Université de Lille (France); Institut Pasteur de Lille (France); Centre Hospitalier Universitaire de Lille (France); Approches épidémiologiques et moléculaires intégratives visant à améliorer la compréhension des maladies chroniques liées au vieillissement (France); LabEx DISTALZ (France); University of Eastern Finland (Finland); Martin Luther University Halle-Wittenberg (Germany); University of Duisburg-Essen (Germany); Heidelberg University (Germany); Central Institute of Mental Health (Germany); Otto-von-Guericke-Universität Magdeburg (Germany); Technical University of Munich (Germany); Universitätsmedizin Göttingen (Germany); University of Aveiro (Portugal); Universitair Ziekenhuis Leuven (Belgium); Vrije Universiteit Brussel (Belgium); Universitair Ziekenhuis Brussel (Belgium); Institut für Medizinische Biometrie, Informatik und Epidemiologie (Germany); Aristotle University of Thessaloniki (Greece); National and Kapodistrian University of Athens (Greece); Columbia University (United States); Universitat Autònoma de Barcelona (Spain); Hospital de Sant Pau (Spain); Institut de Recerca Sant Pau (Spain); Biogipuzkoa Health Research Institute (Spain); Donostiako Unibertsitate Ospitalea (Spain); Instituto de Biomedicina de Valencia (Spain); Consejo Superior de Investigaciones Científicas (Spain); Hospital La Paz Institute for Health Research (Spain); Centro de Biología Molecular Severo Ochoa (Spain); Universidad Autónoma de Madrid (Spain); Hospital Clínic de Barcelona (Spain); Universitat de Barcelona (Spain); Hospital Universitario Central de Asturias (Spain); Instituto de Investigación Sanitaria del Principado de Asturias (Spain); Instituto de Biomedicina de Sevilla (Spain); Hospital Universitario Virgen del Rocío (Spain); Universidad de Sevilla (Spain); Hospital Universitario de Valme (Spain); Universidad de Málaga (Spain); Hospital Universitari de Santa Maria (Spain); Instituto de Investigación Biomédica de Lleida (Spain); Maastricht University (Netherlands); Erasmus MC (Netherlands); Vrije Universiteit Amsterdam (Netherlands); Hertie Institute for Clinical Brain Research (Germany); University of Tübingen (Germany); Universitätsmedizin Rostock (Germany); TUM Klinikum (Germany); Munich Cluster for Systems Neurology (Germany); Imperial College London (United Kingdom); Ludwig-Maximilians-Universität München (Germany); Institut für Schlaganfall- und Demenzforschung (Germany); Medical University of Białystok (Poland); Friedrich-Alexander-Universität Erlangen-Nürnberg (Germany); Universitätsklinikum Erlangen (Germany); Sorbonne Université (France); Assistance Publique – Hôpitaux de Paris (France); Pitié-Salpêtrière Hospital (France); Alzheimer Precision Medicine (France); Medical University of Vienna (Austria); Harvard University (United States); McLean Hospital (United States); Karolinska University Hospital (Sweden); Karolinska Institutet (Sweden); Stockholm University (Sweden); Commissariat à l'Énergie Atomique et aux Énergies Alternatives (France); Université Paris-Saclay (France); Centre National de Recherche en Génomique Humaine (France); Université de Bordeaux (France); Centre Hospitalier Universitaire de Bordeaux (France); Bordeaux Population Health (France); Centre d'Investigation Clinique Plurithématique de Bordeaux; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (Germany); KU Leuven (Belgium); University of Oxford (United Kingdom); Lille Neurosciences & Cognition (France); Université Paris Cité (France); Hôpital Broca (France); Maladie d'Alzheimer : marqueurs génétiques et vasculaires, neuropsychologie (France); Kuopio University Hospital (Finland); Uppsala University (Sweden); Institució Catalana de Recerca i Estudis Avançats (Spain); Universitat Pompeu Fabra (Spain); Institut de Biologia Evolutiva (Spain); Institut des Sciences Moléculaires (France); Institut du Cerveau (France); University of Wisconsin–Madison (United States); University College London (United Kingdom); The University of Texas at San Antonio Health Science Center (United States); University of Pennsylvania (United States); Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (Spain); Hospital Universitari Germans Trias i Pujol (Spain); University of Washington (United States); UCL Queen Square Institute of Neurology (United Kingdom); Indiana University Indianapolis (United States); Indiana University School of Medicine; Indiana University – Purdue University Indianapolis (United States); Hope Center for Neurological Disorders (United States); Icahn School of Medicine at Mount Sinai (United States); Saarland University (Germany); Johns Hopkins University (United States); Johns Hopkins Medicine (United States); Edith Cowan University (Australia); University Health Network (Canada); University of Toronto (Canada); Krembil Brain Institute; Amsterdam University Medical Centers (Netherlands); University of St Andrews (United Kingdom); Cardiff University (United Kingdom); Radboud University Medical Center (Netherlands)
Journal: Nature communications, volume 17, issue 1, article 7385
Dates: received 23 June 2025; accepted 27 March 2026; published online 21 April 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1038/s41467-026-71682-8 · PMID 42014397 · PMCID PMC13402690 · OpenAlex W7155048442
Open access: gold, a free copy (OpenAlex)
Status: code verified
Categories: genetics / omics (modality), structural MRI / diffusion (modality), human (organism), Alzheimer's / dementia (population)
Methods: Statistics, Smoothing, state filtering, decompositions, Preprocessing
Keywords: Genome-wide association studies, Alzheimer's disease
MeSH: Alzheimer Disease*, Autophagy*, Brain*, Lipid Metabolism*, Amyloid beta-Peptides, Apolipoproteins E, Biomarkers, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide, tau Proteins (* major topic)
Topic: Alzheimer's disease research and treatments (Physiology, Medicine), according to OpenAlex
Funding: NIA NIH HHS (P30 AG062715, P30 AG072973, RF1 AG054080, U01 AG072177, P01 AG003991, P01 AG026276, P20 AG068077, P30 AG066530, P30 AG072972, R01 AG022018, R01 AG054047, U01 AG024904, U01 AG058922, P30 AG010161, P30 AG062422, P30 AG062429, P30 AG062677, P30 AG066462, P30 AG066511, R01 AG015819, R01 AG042210, R01 AG059716, R01 AG064614, R01 AG064877, U24 AG041689, P20 AG068082, P30 AG066507, P30 AG072931, P30 AG072978, R01 AG017917, U01 AG006781, U01 AG052410, U24 AG056270, P20 AG068024, P30 AG066514, P30 AG072946, P30 AG072947, P30 AG072959, P30 AG072975, P30 AG072976, R01 AG073439, R01 AG079280, U19 AG074879, U24 AG074855, P20 AG068053, P30 AG062421, P30 AG066508, P30 AG066509, P30 AG072977, R00 AG075238, R01 AG044546, R01 AG067505, RF1 AG053303, RF1 AG054047, P30 AG066512, P30 AG066519, P30 AG066546, P30 AG072979, RF1 AG058501, U19 AG024904, U19 AG066567, P30 AG066444, P30 AG066468, P30 AG066506, P30 AG066515, P30 AG066518, P30 AG072958, RF1 AG074007, U01 AG068057, U19 AG032438, U24 AG072122); ZonMw (73305095007, 733051061); U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) (R01AG044546); Alzheimer’s Association (ZEN-22-848604); Alzheimer's Society (010)
Citations: not cited yet (Europe PMC); 89 references in the paper

Abstract

Cerebrospinal fluid amyloid beta 42, total tau, and phosphorylated tau 181 are well accepted markers of Alzheimer’s disease. These biomarkers better reflect disease pathogenesis compared to clinical diagnosis. Here, we perform a genome wide association study meta-analysis including 18,948 individuals of European ancestry and identify 12 genome-wide significant loci across all three biomarkers, eight of them novel. We replicate the association of biomarkers with APOE, CR1, GMNC/CCDC50 and C16orf95/MAP1LC3B. Novel loci include BIN1 for amyloid beta and GNA12, MS4A6A, SLCO1A2 with both total tau and phosphorylated tau 181, as well as additional loci on chr. 8, near ANGPT1 and chr. 9 near SMARCA2. We also demonstrate that these variants have significant association with Alzheimer’s disease risk, disease progression and/or brain amyloidosis. The associated genes are implicated in lipid metabolism independent of APOE, coupled with autophagy and brain volume regulation driven by total tau and phosphorylated tau 181 dysregulation.

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NeuroGenomicsAndInformatics/GWAS-project

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Zenodo 17780074

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bulik/ldsc

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xtonyjiang/GNOVA

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jigyasha-timsina/gwas-project

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Code availability

We used publicly available software for all analyses in this study. This included: PLINK 2 version 2.00a3.6LM for all single variant analysis, METAL (https://csg.sph.umich.edu/abecasis/metal/download/) for meta-analysis, mtag (Multi-Trait Analysis of GWAS; https://github.com/JonJala/mtag) for pleiotropy analysis, TwoSampleMR R package (version 0.5.8) to perform MR and the coloc R package (version 5.2.2) to perform colocalization. Pathway analysis was performed using the clusterProfiler (version 4.8.2), org.Hs.eg.db (version 3.17.0), DOSE (version 3.26.1) and ReactomePA (version 1.44.0) R packages. LD Score Regression (LDSC; https://github.com/bulik/ldsc) and GNOVA (https://github.com/xtonyjiang/GNOVA) were used for genetic covariance test. Variant annotation and gene-based analysis were performed using ANNOVAR and MAGMA as part of FUMA pipeline (https://fuma.ctglab.nl/). Detailed code used in this project is available on github (https://github.com/NeuroGenomicsAndInformatics/GWAS-project) and on Zenodo (https://zenodo.org/records/17780074).

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Data

Datasets cited

Data Availability Statement

The GWAS meta-analysis summary statistics generated in this study have been deposited in the NIAGADS database under accession code NG00191 (https://dss.niagads.org/datasets/ng00191/) and GWAS catalog (GCST90726396 [https://www.ebi.ac.uk/gwas/studies/GCST90726396]; GCST90726397 (https://www.ebi.ac.uk/gwas/studies/GCST90726397); GCST90726398 (https://www.ebi.ac.uk/gwas/studies/GCST90726398)). The files are also available to download from the Washington University in St. Louis NeuroGenomics and Informatics Center web portal (https://neurogenomics.wustl.edu/open-science/raw-data/). The raw data from ACE, ALFA+, EADB, and EMIF are restricted in accordance with European Union law on participant privacy (General Data Protection Regulation). EPAD, MISSION-AD and Janssen are protected data are not available due to data privacy laws. Please contact individual study for their respective summary statistics access: ACE (http://www.fundacioace.com/en; ), ALFA+ (https://www.barcelonabeta.org/en/research/alfa; ), EADB, EPAD (https://ep-ad.org/index.php/open-source-data/; ), EMIF-AD (https://emif-catalogue.eu; ), MISSION-AD and Janssen. For any other data-related questions, please contact or access requests will be reviewed, and a response will be provided within one month of submission. Human Research Protection Office approval and an approved data request are needed to access the summary statistics and individual-level data. Data generated and analyzed in this study can be accessed via Aβ42 meta-analysis (https://wustl.box.com/s/nfexw54o37smdq84lz1inpqduqcf7ofa), tau meta-analysis (https://wustl.box.com/s/pydeqc87yke2ejvve5mrh9quyaikgq2p) and p-tau181meta-analysis (https://wustl.box.com/s/nmyjzql5awxu7qu57m33rkcvq1w3njj8). Data associated with Supplementary Figs. can be accessed using the following links: Non-European ancestry summary statistics (Aβ42 summary statistics, https://wustl.box.com/s/vyg6jy8utsusfgt0hq982l9sxwelyz6n; tau summary statistics, https://wustl.box.com/s/aij5urrr1p7y6xh9z3bmf3lzycukl3cn; p-tau181 summary statistics, https://wustl.box.com/s/1k8gnrcr3q0molmni9zmwh7ukofzcmil), MTAG (https://wustl.box.com/s/ktydbtjiqnfeta3kjll0ldfa8bywdrzy), Case-Control summary statistics (control Aβ42, https://wustl.box.com/s/fe7p346x1b0qbpb8x6ktr3tfe188zv1f; control tau, https://wustl.box.com/s/sw4c8a8oau6toxauwclfireuvb3xqdov; control p-tau181, https://wustl.box.com/s/nufk3uh6xtqokd24h1hupl7qed5pbuqc; case Aβ42, https://wustl.box.com/s/g3ouyb6auhbjfdevun4602iv6fth1vf9; case tau, https://wustl.box.com/s/ymjc7jwggdeiwnon6easnmcofdo5h2u7; case p-tau181, https://wustl.box.com/s/rdnhg8kn8i1u5p79h2nj2vt0lds5ewrr) and Interaction GWAS (Aβ42 summary statistics, https://wustl.box.com/s/i15maobgqjyki02crje5tdp18m0wadgy; tau summary statistics, https://wustl.box.com/s/5fdxh3ac8v4xgymu61j6xcqx2o0d2o0c; p-tau181 summary statistics, https://wustl.box.com/s/um5mydm5n78bqk5n6da4kbqrvfhkj4xg). The source data underlying Supplementary Figs. 10 and 20 is provided as a source data file. Source data underlying Supplementary Fig. 16 is available at Github (https://github.com/NeuroGenomicsAndInformatics/GWAS-project) and on Zenodo (https://zenodo.org/records/17780074). Source data for this manuscript is available in the Supplementary materials and in the Source Data file. Source data are provided with this paper.

We used publicly available software for all analyses in this study. This included: PLINK 2 version 2.00a3.6LM for all single variant analysis, METAL (https://csg.sph.umich.edu/abecasis/metal/download/) for meta-analysis, mtag (Multi-Trait Analysis of GWAS; https://github.com/JonJala/mtag) for pleiotropy analysis, TwoSampleMR R package (version 0.5.8) to perform MR and the coloc R package (version 5.2.2) to perform colocalization. Pathway analysis was performed using the clusterProfiler (version 4.8.2), org.Hs.eg.db (version 3.17.0), DOSE (version 3.26.1) and ReactomePA (version 1.44.0) R packages. LD Score Regression (LDSC; https://github.com/bulik/ldsc) and GNOVA (https://github.com/xtonyjiang/GNOVA) were used for genetic covariance test. Variant annotation and gene-based analysis were performed using ANNOVAR and MAGMA as part of FUMA pipeline (https://fuma.ctglab.nl/). Detailed code used in this project is available on github (https://github.com/NeuroGenomicsAndInformatics/GWAS-project) and on Zenodo (https://zenodo.org/records/17780074).

Reproduced under the paper's license (CC BY), from the paper cited above.

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Recorded: type, language, journal, volume, issue, pages, dates, 155 authors, 2 keywords, 14 MeSH terms, 5 funders, 88 references.

Cite

This paper

Timsina, J., Jiang, C., McCartney, D. L., Tao, F., Dalmasso, M. C., Najar, J., Anastasi, F., Ohlei, O., Puerta Fuentes, R., Yang, C., Bradley, J., Western, D., Ali, M., Wang, C., Yang, C., Wu, Y., Liu, M., Budde, J., Williams, J., . . . Cruchaga, C. (2026). GWAS meta-analysis of cerebrospinal fluid Alzheimer's biomarkers reveals loci regulating lipids, brain volume and autophagy. Nature communications, 17(1), 7385. https://doi.org/10.1038/s41467-026-71682-8

BibTeX

@article{timsina2026gwas,
author = {Timsina, Jigyasha and Jiang, Chenyang and McCartney, Daniel L and Tao, Feifei and Dalmasso, Maria Carolina and Najar, Jenna and Anastasi, Federica and Ohlei, Olena and Puerta Fuentes, Raquel and Yang, Chenyu and Bradley, Joseph and Western, Daniel and Ali, Muhammad and Wang, Ciyang and Yang, Chengran and Wu, Ying and Liu, Menghan and Budde, John and Williams, Julie and Mahoney, Rebecca and Castillo Morales, Atahualpa and Hohman, Timothy J and Dumitrescu, Logan and Wang, Ting-Chen and Tesi, Niccolo’ and Kern, Silke and Waern, Margda and Skoog, Ingmar and van Harten, Argonde and Pijnenburg, Yolande A L and van der Flier, Wiesje M and Sánchez-Juan, Pascual and Rodriguez-Rodriguez, Eloy and Kleineidam, Luca and Peters, Oliver and Schneider, Anja and Küçükali, Fahri and Bellenguez, Céline and Grenier-Boley, Benjamin and Heikkinen, Sami and de Rojas, Itziar and Rujescu, Dan and Scherbaum, Norbert and Hausner, Lucrezia and Düzel, Emrah and Grimmer, Timo and Wiltfang, Jens and Vandenberghe, Rik and Engelborghs, Sebastiaan and Heilmann-Heimbach, Stefanie and Schmid, Matthias and Tegos, Thomas and Scarmeas, Nikolaos and Dols-Icardo, Oriol and Moreno, Fermin and Pérez-Tur, Jordi and Bullido, María J and Sánchez-Valle, Raquel and Álvarez, Victoria and García-González, Pablo and Mir, Pablo and Real, Luis M and Piñol-Ripoll, Gerard and García-Alberca, Jose María and Seelaar, Harro and Ramakers, Inez and Papma, Janne and Hulsman, Marc and Laske, Christoph and Teipel, Stefan and Priller, Josef and Perneczky, Robert and Buerger, Katharina and Nöthen, Markus M and Lewczuk, Piotr and Kornhuber, Johannes and Hampel, Harald and Giegling, Ina and Goldhardt, Oliver and Diehl-Schmid, Janine and Andrade, Victor and Heneka, Michael MT and Frölich, Lutz and Vogelgsang, Jonathan and Graff, Caroline and Thonberg, Hakan and Ullgren, Abbe and Papenberg, Goran and Deleuze, Jean-François and Dufouil, Carole and Wagner, Michael and Jessen, Frank and Holstege, Henne and van Duijn, Cornelia and Lebouvier, Thibaud and Hannon, Olivier and Leinonen, Ville and Soininen, Hilkka and Herukka, Sanna-Kaisa and Giedraitis, Vilmantas and Löwenmark, Malin and Kilander, Lena and Genius, Patricia and Rodríguez, Blanca and Luckett, Emma S and Navarro, Arcadi and Cano, Amanda and Marquié, Marta and Blennow, Kaj and Zetterberg, Henrik and Lleo, Alberto and Boada, Mercè and Ruiz, Agustin and Lee, Virginia Man-Yee and Van Deerlin, Vivianna M and Deming, Yuetiva and Johnson, Sterling C and Engelman, Corinne D and Pastor, Pau and Alvarez, Ignacio and Peskind, Elaine R and Heslegrave, Amanda J and Saykin, Andrew J and Nho, Kwangsik and Schindler, Suzanne E and Morris, John C and Holtzman, David M and McDade, Eric and Renton, Alan E and Goate, Alison and Ibanez, Laura and Riemenschneider, Matthias and Albert, Marilyn S and Laws, Simon M and Porter, Tenielle and O’Brien, Eleanor K and Shaw, Leslie M and Tijms, Betty M and Ingelsson, Martin and Visser, Pieter Jelle and Hiltunen, Mikko and Sleegers, Kristel and Ritchie, Craig W and Sims, Rebecca and Belloy, Michael and Lambert, Jean-Charles and Vilor-Tejedor, Natalia and Fernández, Maria Victoria and Li, Qingqin S and Nagle, Michael W and Marioni, Riccardo E and Ramirez, Alfredo and Bertram, Lars and van der Lee, Sven J and Cruchaga, Carlos},
title = {{GWAS meta-analysis of cerebrospinal fluid Alzheimer's biomarkers reveals loci regulating lipids, brain volume and autophagy}},
journal = {Nature communications},
year = {2026},
month = apr,
volume = {17},
number = {1},
pages = {7385},
publisher = {Nature Publishing Group},
issn = {2041-1723},
doi = {10.1038/s41467-026-71682-8},
url = {https://doi.org/10.1038/s41467-026-71682-8},
pmid = {42014397},
pmcid = {PMC13402690}
}

RIS

TY - JOUR
AU - Timsina, Jigyasha
AU - Jiang, Chenyang
AU - McCartney, Daniel L
AU - Tao, Feifei
AU - Dalmasso, Maria Carolina
AU - Najar, Jenna
AU - Anastasi, Federica
AU - Ohlei, Olena
AU - Puerta Fuentes, Raquel
AU - Yang, Chenyu
AU - Bradley, Joseph
AU - Western, Daniel
AU - Ali, Muhammad
AU - Wang, Ciyang
AU - Yang, Chengran
AU - Wu, Ying
AU - Liu, Menghan
AU - Budde, John
AU - Williams, Julie
AU - Mahoney, Rebecca
AU - Castillo Morales, Atahualpa
AU - Hohman, Timothy J
AU - Dumitrescu, Logan
AU - Wang, Ting-Chen
AU - Tesi, Niccolo’
AU - Kern, Silke
AU - Waern, Margda
AU - Skoog, Ingmar
AU - van Harten, Argonde
AU - Pijnenburg, Yolande A L
AU - van der Flier, Wiesje M
AU - Sánchez-Juan, Pascual
AU - Rodriguez-Rodriguez, Eloy
AU - Kleineidam, Luca
AU - Peters, Oliver
AU - Schneider, Anja
AU - Küçükali, Fahri
AU - Bellenguez, Céline
AU - Grenier-Boley, Benjamin
AU - Heikkinen, Sami
AU - de Rojas, Itziar
AU - Rujescu, Dan
AU - Scherbaum, Norbert
AU - Hausner, Lucrezia
AU - Düzel, Emrah
AU - Grimmer, Timo
AU - Wiltfang, Jens
AU - Vandenberghe, Rik
AU - Engelborghs, Sebastiaan
AU - Heilmann-Heimbach, Stefanie
AU - Schmid, Matthias
AU - Tegos, Thomas
AU - Scarmeas, Nikolaos
AU - Dols-Icardo, Oriol
AU - Moreno, Fermin
AU - Pérez-Tur, Jordi
AU - Bullido, María J
AU - Sánchez-Valle, Raquel
AU - Álvarez, Victoria
AU - García-González, Pablo
AU - Mir, Pablo
AU - Real, Luis M
AU - Piñol-Ripoll, Gerard
AU - García-Alberca, Jose María
AU - Seelaar, Harro
AU - Ramakers, Inez
AU - Papma, Janne
AU - Hulsman, Marc
AU - Laske, Christoph
AU - Teipel, Stefan
AU - Priller, Josef
AU - Perneczky, Robert
AU - Buerger, Katharina
AU - Nöthen, Markus M
AU - Lewczuk, Piotr
AU - Kornhuber, Johannes
AU - Hampel, Harald
AU - Giegling, Ina
AU - Goldhardt, Oliver
AU - Diehl-Schmid, Janine
AU - Andrade, Victor
AU - Heneka, Michael MT
AU - Frölich, Lutz
AU - Vogelgsang, Jonathan
AU - Graff, Caroline
AU - Thonberg, Hakan
AU - Ullgren, Abbe
AU - Papenberg, Goran
AU - Deleuze, Jean-François
AU - Dufouil, Carole
AU - Wagner, Michael
AU - Jessen, Frank
AU - Holstege, Henne
AU - van Duijn, Cornelia
AU - Lebouvier, Thibaud
AU - Hannon, Olivier
AU - Leinonen, Ville
AU - Soininen, Hilkka
AU - Herukka, Sanna-Kaisa
AU - Giedraitis, Vilmantas
AU - Löwenmark, Malin
AU - Kilander, Lena
AU - Genius, Patricia
AU - Rodríguez, Blanca
AU - Luckett, Emma S
AU - Navarro, Arcadi
AU - Cano, Amanda
AU - Marquié, Marta
AU - Blennow, Kaj
AU - Zetterberg, Henrik
AU - Lleo, Alberto
AU - Boada, Mercè
AU - Ruiz, Agustin
AU - Lee, Virginia Man-Yee
AU - Van Deerlin, Vivianna M
AU - Deming, Yuetiva
AU - Johnson, Sterling C
AU - Engelman, Corinne D
AU - Pastor, Pau
AU - Alvarez, Ignacio
AU - Peskind, Elaine R
AU - Heslegrave, Amanda J
AU - Saykin, Andrew J
AU - Nho, Kwangsik
AU - Schindler, Suzanne E
AU - Morris, John C
AU - Holtzman, David M
AU - McDade, Eric
AU - Renton, Alan E
AU - Goate, Alison
AU - Ibanez, Laura
AU - Riemenschneider, Matthias
AU - Albert, Marilyn S
AU - Laws, Simon M
AU - Porter, Tenielle
AU - O’Brien, Eleanor K
AU - Shaw, Leslie M
AU - Tijms, Betty M
AU - Ingelsson, Martin
AU - Visser, Pieter Jelle
AU - Hiltunen, Mikko
AU - Sleegers, Kristel
AU - Ritchie, Craig W
AU - Sims, Rebecca
AU - Belloy, Michael
AU - Lambert, Jean-Charles
AU - Vilor-Tejedor, Natalia
AU - Fernández, Maria Victoria
AU - Li, Qingqin S
AU - Nagle, Michael W
AU - Marioni, Riccardo E
AU - Ramirez, Alfredo
AU - Bertram, Lars
AU - van der Lee, Sven J
AU - Cruchaga, Carlos
TI - GWAS meta-analysis of cerebrospinal fluid Alzheimer's biomarkers reveals loci regulating lipids, brain volume and autophagy
T2 - Nature communications
J2 - Nat Commun
PY - 2026
DA - 2026/04/21
VL - 17
IS - 1
SP - 7385
SN - 2041-1723
PB - Nature Publishing Group
DO - 10.1038/s41467-026-71682-8
UR - https://doi.org/10.1038/s41467-026-71682-8
LA - en
ER -

CSL-JSON

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"PMCID": "PMC13402690",
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}
}

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