Evidence map›Paper›PMID 28376694›Full record

ArticleNeurocase2017

Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer's disease.

Luke W Bonham, Daniel W Sirkis, Jia Fan, Renan E Aparicio, Marian Tse, Eliana Marisa Ramos, Qing Wang, Giovanni Coppola, Howard J Rosen, Bruce L Miller and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurocase, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 28% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. HeterozygousJournal of clinical neurology (Seoul, Korea) · 2020
    Article
  5. The Genetics of Alzheimer's Disease in the Chinese Population.International journal of molecular sciences · 2020
    Review
  6. Review
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

11 authors at 4 institutions in 2 countries.

Luke W Bonhama Memory and Aging Center, Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
Daniel W Sirkisb Department of Molecular and Cell Biology, Howard Hughes Medical Institute , University of California, Berkeley , Berkeley , CA , USA.
Jia Fana Memory and Aging Center, Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
Renan E Apariciob Department of Molecular and Cell Biology, Howard Hughes Medical Institute , University of California, Berkeley , Berkeley , CA , USA.
Marian Tsea Memory and Aging Center, Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
Eliana Marisa Ramosd Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior , The David Geffen School of Medicine at University of California Los Angeles , Los Angeles , CA , USA.
Qing Wangd Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior , The David Geffen School of Medicine at University of California Los Angeles , Los Angeles , CA , USA.
Giovanni Coppolad Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior , The David Geffen School of Medicine at University of California Los Angeles , Los Angeles , CA , USA.
Howard J Rosena Memory and Aging Center, Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
Bruce L Millera Memory and Aging Center, Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
Jennifer S Yokoyamaa Memory and Aging Center, Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
University of California, San Francisco · USUniversity of California, Los Angeles · USHoward Hughes Medical Institute · USUniversity Memory and Aging Center · US

Funding

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
PrPSc SPECIFIC INTERACTION WITH NOVEL PrP-Fc FUSION PROTEINSP50AG023501 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MILLER, BRUCE L · 2004 to 2018
$27.1M
Multimodal Imaging in Frontotemporal DegenerationK24AG045333 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ROSEN, HOWARD J · 2013 to 2023
$1.9M
RNA signatures of frontotemporal dementia and ALS due to C9ORF72 expansionK01AG049152 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI YOKOYAMA, JENNIFER S · 2015 to 2019
$648k
Biochemical dissection of amyloid precursor protein transport from the GolgiF32AG050404 · NIA · UNIVERSITY OF CALIFORNIA BERKELEY · PI SIRKIS, DANIEL W. · 2015 to 2017
$173k
NIA NIH HHS F32 AG050404NIA NIH HHS K01 AG049152NIA NIH HHS K24 AG045333NIA NIH HHS P50 AG023501NIA NIH HHS U24 AG021886
6 · The paper itself

Abstract

Rare variation in the TREM2 gene is associated with a broad spectrum of neurodegenerative disorders including Alzheimer's disease (AD). TREM2 encodes a receptor expressed in microglia which is thought to influence neurodegeneration by sensing damage signals and regulating neuroinflammation. Many of the variants reported to be associated with AD, including the rare R47H variant, were discovered in populations of European ancestry and have not replicated in diverse populations from other genetic backgrounds. We utilized a cohort of elderly Chinese individuals diagnosed as cognitively normal, or with mild cognitive impairment or AD to identify a rare variant, A192T, present in a single patient diagnosed with AD. We characterized this variant using biochemical cell surface expression assays and found that it significantly altered cell surface expression of the TREM2 protein. Together these data provide evidence that the A192T variant in TREM2 could contribute risk for AD. This study underscores the increasingly recognized role of immune-related processes in AD and highlights the importance of including diverse populations in research to identify genetic variation that contributes risk for AD and other neurodegenerative disorders.

Indexed as

AgedAged, 80 and overAlzheimer DiseaseAsian PeopleBiotinylationCognition DisordersCohort StudiesFemaleHEK293 CellsHumansMaleMembrane GlycoproteinsMolecular BiologyPolymorphism, Single NucleotideReceptors, ImmunologicTransfectionMembrane GlycoproteinsReceptors, ImmunologicTREM2 protein, humanAlzheimer’s diseasecase reportChinesedementiageneticsrare variantTREM2

Identifiers

PMID28376694
PMCPMC5639900
OpenAlexW2605301967

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.