Evidence map›Paper›PMID 35399757›Full record

ArticleQuantitative biology (Beijing, China)2021

Integrating brain imaging endophenotypes with GWAS for Alzheimer's disease.

Katherine A Knutson, Wei Pan

Abstract read
In one paragraph

Article in Quantitative biology (Beijing, China), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

10 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026
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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

2 authors.

Katherine A KnutsonDivision of Biostatistics, University of Minnesota, Minneapolis, MN 55455, USA.
Wei PanDivision of Biostatistics, University of Minnesota, Minneapolis, MN 55455, USA.

Funding

Association analysis of rare variants with sequencing dataR01HL116720 · NHLBI · UNIVERSITY OF MINNESOTA · PI PAN, WEI, WEI, PENG · 2013 to 2020
$3.3M
Discovering causal genes, brain regions and other risk factors for Alzheimer's DiseaseR01AG065636 · NIA · UNIVERSITY OF MINNESOTA · PI PAN, WEI · 2020 to 2024
$3.1M
Estimation and Inference of Gene Regulatory NetworksR01GM126002 · NIGMS · UNIVERSITY OF MINNESOTA · PI PAN, WEI, SHEN, XIAOTONG TOM · 2017 to 2020
$1.4M
Statistical Methods for Genomic DataR01GM113250 · NIGMS · UNIVERSITY OF MINNESOTA · PI PAN, WEI · 2014 to 2017
$702k
Biostatistics in Genetics and Genomics Training ProgramT32GM108557 · NIGMS · UNIVERSITY OF MINNESOTA · PI PAN, WEI · 2014 to 2018
$583k
Integrating genomic and imaging endophenotypes in GWASR21AG057038 · NIA · UNIVERSITY OF MINNESOTA · PI PAN, WEI · 2017 to 2018
$405k
NHLBI NIH HHS R01 HL116720NIA NIH HHS R01 AG065636NIA NIH HHS R21 AG057038NIGMS NIH HHS R01 GM113250NIGMS NIH HHS R01 GM126002NIGMS NIH HHS T32 GM108557
6 · The paper itself

Abstract

Background: Genome wide association studies (GWAS) have identified many genetic variants associated with increased risk of Alzheimer's disease (AD). These susceptibility loci may effect AD indirectly through a combination of physiological brain changes. Many of these neuropathologic features are detectable via magnetic resonance imaging (MRI). Methods: In this study, we examine the effects of such brain imaging derived phenotypes (IDPs) with genetic etiology on AD, using and comparing the following methods: two-sample Mendelian randomization (2SMR), generalized summary statistics based Mendelian randomization (GSMR), transcriptome wide association studies (TWAS) and the adaptive sum of powered score (aSPU) test. These methods do not require individual-level genotypic and phenotypic data but instead can rely only on an external reference panel and GWAS summary statistics. Results: Using publicly available GWAS datasets from the International Genomics of Alzheimer's Project (IGAP) and UK Biobank's (UKBB) brain imaging initiatives, we identify 35 IDPs possibly associated with AD, many of which have well established or biologically plausible links to the characteristic cognitive impairments of this neurodegenerative disease. Conclusions: Our results highlight the increased power for detecting genetic associations achieved by multiple correlated SNP-based methods,

Indexed as

aSPU testMendelian randomizationMRISPU testsSum testTWAS

Identifiers

PMID35399757
PMCPMC8993183

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Registered trials

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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.