ArticleNeuroImage2010
Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.
Article in NeuroImage, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 237 papers, 4 of them syntheses that pooled 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.
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.
Alzheimer's Disease Neuroimaging Initiative Grand Opportunity
Alzheimer's Disease Neuroimaging Initiative 2
Who cites it
237 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Role of Imaging Genetics in Alzheimer's Disease: A Systematic Review and Current Update.CNS & neurological disorders drug targets · 2024Pooled it
- Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.Frontiers in aging neuroscience · 2021Pooled it
- Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers.Brain imaging and behavior · 2014Pooled it
- Genome-wide association analysis of age-at-onset in Alzheimer's disease.Molecular psychiatry · 2012Pooled it
- A Genome-Wide Association Study Suggests Novel Loci Associated with a Schizophrenia-Related Brain-Based Phenotype.PloS one · 2013Trial
- Macro-Micro structural integration for characterizing severity-related structural alterations in mild cognitive impairment.NeuroImage. Clinical · 2026Article
- Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026Review
- Neurovascular-metabolic dysregulation, metabolic connectomics, and metabolic functional changes in Alzheimer's disease: A preclinical and clinical comparison.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Neurexins, Ephrin receptors, and N-cadherin signaling as emerging mechanisms in synaptic dysfunction and neurodegenerative diseases.Communications biology · 2026Review
- Risk factors underlying brain structure change rate in cognitive decline: Results from genomewide and phenomewide investigations.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Interpretable multimodal learning for integrating neuroimaging and genetic data in Alzheimer's disease.Frontiers in radiology · 2026Article
- Predicting progression of Alzheimer's disease using blood-based multi-omics data.Bioinformatics advances · 2026Article
- Learning Explainable Imaging-Genetics Associations Related to a Neurological Disorder.Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention · 2026Article
- Neurometabolic and vascular dysfunction as an early diagnostic for Alzheimer's disease and related dementias.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- The Genetics of Amyloid Deposition: A Systematic Review of Genome-Wide Association Studies Using Amyloid PET Imaging in Alzheimer's Disease.Journal of imaging · 2025Review
- Functional Connectome of Superagers Reveals Early Markers of Resilience and Vulnerability to Alzheimer's Disease.bioRxiv : the preprint server for biology · 2025Article
- Trustworthy causal biomarker discovery: a multiomics brain imaging genetics-based approach.Bioinformatics (Oxford, England) · 2025Article
- A Module-Level Polygenic Risk Score-Based NetWAS Framework for Identifying AD Genetic Modules Mediated by Amygdala: An ADNI Study.International journal of molecular sciences · 2025Article
- Plasma Proteins Associated with the Mediterranean-Dietary Approaches to Stop Hypertension Intervention for Neurodegenerative Delay (MIND) Diet and Incident Dementia.The Journal of nutrition · 2025Article
- A genetically informed brain atlas for enhancing brain imaging genomics.Nature communications · 2025Article
177 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors.
Funding
Abstract
A genome-wide, whole brain approach to investigate genetic effects on neuroimaging phenotypes for identifying quantitative trait loci is described. The Alzheimer's Disease Neuroimaging Initiative 1.5 T MRI and genetic dataset was investigated using voxel-based morphometry (VBM) and FreeSurfer parcellation followed by genome-wide association studies (GWAS). One hundred forty-two measures of grey matter (GM) density, volume, and cortical thickness were extracted from baseline scans. GWAS, using PLINK, were performed on each phenotype using quality-controlled genotype and scan data including 530,992 of 620,903 single nucleotide polymorphisms (SNPs) and 733 of 818 participants (175 AD, 354 amnestic mild cognitive impairment, MCI, and 204 healthy controls, HC). Hierarchical clustering and heat maps were used to analyze the GWAS results and associations are reported at two significance thresholds (p<10(-7) and p<10(-6)). As expected, SNPs in the APOE and TOMM40 genes were confirmed as markers strongly associated with multiple brain regions. Other top SNPs were proximal to the EPHA4, TP63 and NXPH1 genes. Detailed image analyses of rs6463843 (flanking NXPH1) revealed reduced global and regional GM density across diagnostic groups in TT relative to GG homozygotes. Interaction analysis indicated that AD patients homozygous for the T allele showed differential vulnerability to right hippocampal GM density loss. NXPH1 codes for a protein implicated in promotion of adhesion between dendrites and axons, a key factor in synaptic integrity, the loss of which is a hallmark of AD. A genome-wide, whole brain search strategy has the potential to reveal novel candidate genes and loci warranting further investigation and replication.
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Identifiers
What OpenQuestion holds
Registered trials
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.