Evidence map›Paper›PMID 24787912›Full record

ArticleJournal of Alzheimer's disease : JAD2014

Ordered subset analysis of copy number variation association with age at onset of Alzheimer's disease.

Kinga Szigeti, Blanka Kellermayer, Jenna M Lentini, Brian Trummer, Deepika Lal, Rachelle S Doody, Li Yan, Song Liu, Changxing Ma, Texas Alzheimer Research and Care Consortium

Open access · greenAbstract read
In one paragraph

Article in Journal of Alzheimer's disease : JAD, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.2field-weighted citation impact, top 20% 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

11 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Article
  6. MAPT haplotype-stratified GWAS reveals differential association for AD risk variants.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020
    Article
  7. Article
  8. Review
  9. Article
  10. Genetics of psychosis of Alzheimer disease.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017
    Review
  11. 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

10 authors at 3 institutions in 1 country.

Kinga SzigetiDepartment of Neurology, University at Buffalo, SUNY, Buffalo, NY, USA.
Blanka KellermayerDepartment of Neurology, University at Buffalo, SUNY, Buffalo, NY, USA.
Jenna M LentiniDepartment of Neurology, University at Buffalo, SUNY, Buffalo, NY, USA.
Brian TrummerDepartment of Neurology, University at Buffalo, SUNY, Buffalo, NY, USA.
Deepika LalDepartment of Neurology, University at Buffalo, SUNY, Buffalo, NY, USA.
Rachelle S DoodyAlzheimer's Disease and Memory Disorders Center, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.
Li YanDepartment of Bioinformatics, University at Buffalo, SUNY, Buffalo, NY, USA.
Song LiuRoswell Park Cancer Institute, Buffalo, NY, USA.
Changxing MaDepartment of Bioinformatics, University at Buffalo, SUNY, Buffalo, NY, USA.
Texas Alzheimer Research and Care Consortium
University at Buffalo, State University of New York · USBaylor College of Medicine · USRoswell Park Comprehensive Cancer 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
The National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS)U24AG056270 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Gary Wayne Beecham, TATIANA M. FOROUD · 2017 to 2026
$31.4M
Epidemiology of Familial Late-Onset Alzheimer's DiseaseR01AG041797 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P · 2012 to 2016
$4.2M
OLFACTORY RECEPTOR COPY NUMBER ASSOCIATION WITH AGE AT ONSET OF ALZHEIMER DISEASEK23AG036852 · NIA · STATE UNIVERSITY OF NEW YORK AT BUFFALO · PI SZIGETI, KINGA · 2010 to 2014
$850k
NIA NIH HHS K23 AG036852NIA NIH HHS R01 AG041797NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG056270
6 · The paper itself

Abstract

Genetic heterogeneity is a common problem for genome-wide association studies of complex human diseases. Ordered-subset analysis (OSA) reduces genetic heterogeneity and optimizes the use of phenotypic information, thus improving power under some disease models. We hypothesized that in a genetically heterogeneous disorder such as Alzheimer's disease (AD), utilizing OSA by age at onset (AAO) of AD may increase the power to detect relevant loci. Using this approach, 8 loci were detected, including the chr15 : 30,44 region harboring CHRFAM7A. The association was replicated in the NIA-LOAD Familial Study dataset. CHRFAM7A is a dominant negative regulator of CHRNA7 function, the receptor that facilitates amyloid-β1-42 internalization through endocytosis and has been implicated in AD. OSA, using AAO as a quantitative trait, optimized power and detected replicable signals suggesting that AD is genetically heterogeneous between AAO subsets.

Indexed as

AgedAged, 80 and overAge of Onsetalpha7 Nicotinic Acetylcholine ReceptorAlzheimer DiseaseApolipoproteins EBrainCohort StudiesDatasets as TopicDNA Copy Number VariationsFemaleGene Expression ProfilingGenetic Association StudiesGenetic HeterogeneityGenetic Predisposition to DiseaseGenotypealpha7 Nicotinic Acetylcholine ReceptorApolipoproteins EChrna7 protein, humanAge at onsetAlzheimer's diseasecopy number variation

Identifiers

PMID24787912
PMCPMC4866488
OpenAlexW1577203367

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.