Evidence map›Paper›PMID 29091582›Full record

ArticleStatistical applications in genetics and molecular biology2017

Multivariate association between single-nucleotide polymorphisms in Alzgene linkage regions and structural changes in the brain: discovery, refinement and validation.

Elena Szefer, Donghuan Lu, Farouk Nathoo, Mirza Faisal Beg, Jinko Graham, Alzheimer’s Disease Neuroimaging Initiative

Open access · bronzeAbstract read
In one paragraph

Article in Statistical applications in genetics and molecular biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
2.2field-weighted citation impact, top 11% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review.Journal of neuropathology and experimental neurology · 2020
    Review
  5. Article
  6. Article
  7. A Review of Statistical Methods in Imaging Genetics.The Canadian journal of statistics = Revue canadienne de statistique · 2019
    Article
  8. 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

6 authors at 2 institutions in 1 country.

Elena Szefer.
Donghuan Lu.
Farouk Nathoo.
Mirza Faisal Beg.
Jinko Graham.
Alzheimer’s Disease Neuroimaging Initiative
Simon Fraser University · CAUniversity of Victoria · CA

Funding

Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0M
PREDICT-ADFTD: Multimodal Imaging Prediction of AD/FTD and Differential DiagnosisR01AG055121 · NIA · OHIO STATE UNIVERSITY · PI ROSEN, HOWARD J, WANG, LEI · 2017 to 2020
$2.8M
NIA NIH HHS R01 AG055121NIA NIH HHS U01 AG024904
6 · The paper itself

Abstract

Using publicly-available data from the Alzheimer's Disease Neuroimaging Initiative, we investigate the joint association between single-nucleotide polymorphisms (SNPs) in previously established linkage regions for Alzheimer's disease (AD) and rates of decline in brain structure. In an initial, discovery stage of analysis, we applied a weighted RV test to assess the association between 75,845 SNPs in the Alzgene linkage regions and rates of change in structural MRI measurements for 56 brain regions affected by AD, in 632 subjects. After confirming association, we selected refined lists of 1694 and 22 SNPs via a bootstrap-enhanced sparse canonical correlation analysis. In a final, validation stage, we confirmed association between the refined list of 1694 SNPs and the imaging phenotypes in an independent data set. Genes corresponding to priority SNPs having the highest contribution in the validation data have previously been implicated or hypothesized to be implicated in AD, including GCLC, IDE, and STAMBP1andFAS. Though the effect sizes of the 1694 SNPs in the priority set are likely small, further investigation within this set may advance understanding of the missing heritability in AD. Our analysis addresses challenges in current imaging-genetics studies such as biased sampling designs and high-dimensional data with low association signal.

Indexed as

Genetic LinkageMultivariate AnalysisPolymorphism, Single NucleotideAllelesAlzheimer DiseaseBrainBrain MappingGenome-Wide Association StudyHumansImage Processing, Computer-AssistedMagnetic Resonance ImagingReproducibility of ResultsEndophenotypesImaging geneticsInverse probability weightingLinkage regionsMultivariate analysisVariable importance probabilities

Identifiers

PMID29091582
PMCPMC9008768
OpenAlexW2950331006

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.