Evidence map›Paper›PMID 29486463›Full record

ArticleDementia and geriatric cognitive disorders2018

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

Elizabeth E Blue, Joshua C Bis, Michael O Dorschner, Debby W Tsuang, Sandra M Barral, Gary Beecham, Jennifer E Below, William S Bush, Mariusz Butkiewicz, Carlos Cruchaga and 33 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Dementia and geriatric cognitive disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
3.3field-weighted citation impact, top 8% 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

18 citing papers in PubMed, 33 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
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  11. Age-Related Macular Degeneration: From Epigenetics to Therapeutic Implications.Advances in experimental medicine and biology · 2021
    Article
  12. Review
  13. Review
  14. The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review.Journal of neuropathology and experimental neurology · 2020
    Review
  15. Article
  16. Review
  17. Article
  18. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

43 authors at 11 institutions in 1 country.

Elizabeth E BlueUniversity of Washington, Seattle, Washington, USA.
Joshua C BisUniversity of Washington, Seattle, Washington, USA.
Michael O DorschnerUniversity of Washington, Seattle, Washington, USA.
Debby W TsuangUniversity of Washington, Seattle, Washington, USA.
Sandra M BarralColumbia University, New York, New York, USA.
Gary BeechamUniversity of Miami, Miami, Florida, USA.
Jennifer E BelowVanderbilt University Medical Center, Nashville, Tennessee, USA.
William S BushCase Western Reserve University, Cleveland, Ohio, USA.
Mariusz ButkiewiczCase Western Reserve University, Cleveland, Ohio, USA.
Carlos CruchagaWashington University in St. Louis, St. Louis, Missouri, USA.
Anita DeStefanoBoston University, Boston, Massachusetts, USA.
Lindsay A FarrerBoston University, Boston, Massachusetts, USA.
Alison GoateMount Sinai School of Medicine, New York, New York, USA.
Jonathan HainesCase Western Reserve University, Cleveland, Ohio, USA.
Jim JaworskiUniversity of Miami, Miami, Florida, USA.
Gyungah JunBoston University, Boston, Massachusetts, USA.
Brian KunkleUniversity of Miami, Miami, Florida, USA.
Amanda KuzmaUniversity of Pennsylvania, Philadelphia, Pennsylvania, USA.
Jenny J LeeColumbia University, New York, New York, USA.
Kathryn L LunettaBoston University, Boston, Massachusetts, USA.
Yiyi MaBoston University, Boston, Massachusetts, USA.
Eden MartinUniversity of Miami, Miami, Florida, USA.
Adam NajUniversity of Pennsylvania, Philadelphia, Pennsylvania, USA.
Alejandro Q NatoUniversity of Washington, Seattle, Washington, USA.
Patrick NavasUniversity of Washington, Seattle, Washington, USA.
Hiep NguyenUniversity of Washington, Seattle, Washington, USA.
Christiane ReitzColumbia University, New York, New York, USA.
Dolly ReyesColumbia University, New York, New York, USA.
William SalernoBaylor College of Medicine, Houston, Texas, USA.
Gerard D SchellenbergUniversity of Pennsylvania, Philadelphia, Pennsylvania, USA.
Sudha SeshadriBoston University, Boston, Massachusetts, USA.
Harkirat SohiUniversity of Washington, Seattle, Washington, USA.
Timothy A ThorntonUniversity of Washington, Seattle, Washington, USA.
Otto ValadaresUniversity of Pennsylvania, Philadelphia, Pennsylvania, USA.
Cornelia van DuijnErasmus Medical University, Rotterdam, the Netherlands.
Badri N VardarajanColumbia University, New York, New York, USA.
Li-San WangUniversity of Pennsylvania, Philadelphia, Pennsylvania, USA.
Eric BoerwinkleBaylor College of Medicine, Houston, Texas, USA.
Josée DupuisBoston University, Boston, Massachusetts, USA.
Margaret A Pericak-VanceUniversity of Miami, Miami, Florida, USA.
Richard MayeuxColumbia University, New York, New York, USA.
Ellen M WijsmanUniversity of Washington, Seattle, Washington, USA.
on behalf of the Alzheimer’s Disease Sequencing Project
University of Washington · USBoston University · USColumbia University · USUniversity of Miami · USUniversity of Pennsylvania · USCase Western Reserve University · USBaylor College of Medicine · USIcahn School of Medicine at Mount Sinai · USVanderbilt University Medical Center · USVA Puget Sound Health Care System · USWashington University in St. Louis · US

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
Large Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7M
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
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
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 BREWER, JAMES B · 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
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6 · The paper itself

Abstract

BACKGROUND/

aimsThe Alzheimer's Disease Sequencing Project (ADSP) aims to identify novel genes influencing Alzheimer's disease (AD). Variants within genes known to cause dementias other than AD have previously been associated with AD risk. We describe evidence of co-segregation and associations between variants in dementia genes and clinically diagnosed AD within the ADSP.

methodsWe summarize the properties of known pathogenic variants within dementia genes, describe the co-segregation of variants annotated as "pathogenic" in ClinVar and new candidates observed in ADSP families, and test for associations between rare variants in dementia genes in the ADSP case-control study. The participants were clinically evaluated for AD, and they represent European, Caribbean Hispanic, and isolate Dutch populations. RESULTS/

conclusionsPathogenic variants in dementia genes were predominantly rare and conserved coding changes. Pathogenic variants within ARSA, CSF1R, and GRN were observed, and candidate variants in GRN and CHMP2B were nominated in ADSP families. An independent case-control study provided evidence of an association between variants in TREM2, APOE, ARSA, CSF1R, PSEN1, and MAPT and risk of AD. Variants in genes which cause dementing disorders may influence the clinical diagnosis of AD in a small proportion of cases within the ADSP.

Indexed as

AgedAged, 80 and overAlzheimer DiseaseCase-Control StudiesCohort StudiesDementiaFemaleGenetic VariationGenome-Wide Association StudyHumansMaleNerve Tissue ProteinsPolymorphism, Single NucleotidePrevalenceSequence Analysis, DNANerve Tissue ProteinsAlzheimer geneticsAlzheimer’s diseaseArylsulfatase A pseudodeficiencyCandidate genesClinVarFrontotemporal dementiaPathogenicityRare variants

Identifiers

PMID29486463
PMCPMC5971141
OpenAlexW2792286002

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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.