Evidence map›Paper›PMID 23562540›Full record

ArticleNeuron2013

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.

Carlos Cruchaga, John S K Kauwe, Oscar Harari, Sheng Chih Jin, Yefei Cai, Celeste M Karch, Bruno A Benitez, Amanda T Jeng, Tara Skorupa, David Carrell and 30 more

Open access · bronzeAbstract read
In one paragraph

Article in Neuron, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 262 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
262citing papers in PubMed, 11 pooled it
20.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

262 citing papers in PubMed, 11 syntheses or guidelines pooled it, 399 citations in OpenAlex.

  1. Pooled it
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  6. Genome-Wide Meta-Analysis of Cerebrospinal Fluid Biomarkers in Alzheimer's Disease and Parkinson's Disease Cohorts.Movement disorders : official journal of the Movement Disorder Society · 2023
    Pooled it
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  12. Trial
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  15. New Genetic Associations Between Alzheimer's Disease and Its Key Risk Factors.Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society · 2026
    Article
  16. Review
  17. Article
  18. Article
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  20. Article

202 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

40 authors at 14 institutions in 2 countries.

Carlos CruchagaDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.
John S K Kauwe
Oscar Harari
Sheng Chih Jin
Yefei Cai
Celeste M Karch
Bruno A Benitez
Amanda T Jeng
Tara Skorupa
David Carrell
Sarah Bertelsen
Matthew Bailey
David McKean
Joshua M Shulman
Philip L De Jager
Lori Chibnik
David A Bennett
Steve E Arnold
Denise Harold
Rebecca Sims
Amy Gerrish
Julie Williams
Vivianna M Van Deerlin
Virginia M-Y Lee
Leslie M Shaw
John Q Trojanowski
Jonathan L Haines
Richard Mayeux
Margaret A Pericak-Vance
Lindsay A Farrer
Gerard D Schellenberg
Elaine R Peskind
Douglas Galasko
Anne M Fagan
David M Holtzman
John C Morris
GERAD Consortium
Alzheimer’s Disease Neuroimaging Initiative (ADNI)
Alzheimer Disease Genetic Consortium (ADGC)
Alison M Goate
Washington University in St. Louis · USUniversity of Pennsylvania · USCardiff University · GBBrigham Young University · USHope Center for Neurological Disorders · USBrigham and Women's Hospital · USBoston University · USCenter for Human Genetics · USColumbia University · USNeurological Research Institute · USRush University Medical Center · USUniversity of California, San Diego · USUniversity of Miami · USUniversity of Washington · US

Funding

Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0M
National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8M
RECRUITMENT COREU19AG010483 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI FELDMAN, HOWARD · 2013 to 2020
$80.6M
NATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8M
Smartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5M
Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4M
THERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI GRABOWSKI, THOMAS J. · 1985 to 2019
$57.2M
VIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GOLDSTEIN, LAWRENCE S. · 1985 to 2018
$55.4M
WASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI FAGAN, ANNE · 1985 to 2019
$52.1M
The natural history of AB accumulation in preclinical ADP01AG026276 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 2005 to 2025
$49.5M
SUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI LEURGANS, SUE E. · 1991 to 2020
$49.1M
EPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3M
Medical Research Council G0300429Medical Research Council G0902227Medical Research Council MR/K013041/1NHGRI NIH HHS U01 HG006375NIA NIH HHS AG010124NIA NIH HHS AG05136NIA NIH HHS K01 AG030514NIA NIH HHS K08 AG034290NIA NIH HHS K25 AG041906NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG026276NIA NIH HHS P01 AG03991NIA NIH HHS P01 AG05131NIA NIH HHS P30 AG008051NIA NIH HHS P30 AG010124NIA NIH HHS P30 AG010129NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG013846NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG005136NIA NIH HHS P50 AG005138NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG05681NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG016208NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG030146NIA NIH HHS R01 AG035083NIA NIH HHS R01 AG042611NIA NIH HHS R01 AG16208NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG032984NIA NIH HHS U19 AG010483NIA NIH HHS U24 AG021886NIDA NIH HHS R25 DA027995NINDS NIH HHS P30 NS069329NINDS NIH HHS P30 NS069329-01Wellcome Trust
6 · The paper itself

Abstract

Cerebrospinal fluid (CSF) tau, tau phosphorylated at threonine 181 (ptau), and Aβ₄₂ are established biomarkers for Alzheimer's disease (AD) and have been used as quantitative traits for genetic analyses. We performed the largest genome-wide association study for cerebrospinal fluid (CSF) tau/ptau levels published to date (n = 1,269), identifying three genome-wide significant loci for CSF tau and ptau: rs9877502 (p = 4.89 × 10⁻⁹ for tau) located at 3q28 between GEMC1 and OSTN, rs514716 (p = 1.07 × 10⁻⁸ and p = 3.22 × 10⁻⁹ for tau and ptau, respectively), located at 9p24.2 within GLIS3 and rs6922617 (p = 3.58 × 10⁻⁸ for CSF ptau) at 6p21.1 within the TREM gene cluster, a region recently reported to harbor rare variants that increase AD risk. In independent data sets, rs9877502 showed a strong association with risk for AD, tangle pathology, and global cognitive decline (p = 2.67 × 10⁻⁴, 0.039, 4.86 × 10⁻⁵, respectively) illustrating how this endophenotype-based approach can be used to identify new AD risk loci.

Indexed as

Genome-Wide Association StudyAgedAged, 80 and overAlzheimer DiseaseAmyloid beta-PeptidesApolipoproteins ECase-Control StudiesChromosomes, Human, Pair 3Chromosomes, Human, Pair 6DNA-Binding ProteinsFemaleGenotypeHumansMaleMembrane GlycoproteinsMiddle AgedAmyloid beta-Peptidesamyloid beta-protein (1-42)Apolipoproteins EDNA-Binding ProteinsGLIS3 protein, humanMembrane GlycoproteinsMuscle ProteinsOSTN protein, humanPeptide FragmentsReceptors, ImmunologicRepressor ProteinsSerinetau ProteinsTrans-ActivatorsTranscription FactorsTREM2 protein, human

Identifiers

PMID23562540
PMCPMC3664945
OpenAlexW2124341714

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.