SynthesisAnnals of neurology2011
Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium.
Synthesis in Annals of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers, 14 of them syntheses that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
130 citing papers in PubMed, 14 syntheses or guidelines pooled it.
- Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities.Journal of human genetics · 2026Pooled it
- A population-based meta-analysis of circulating GFAP for cognition and dementia risk.Annals of clinical and translational neurology · 2022Pooled it
- Cerebral small vessel disease genomics and its implications across the lifespan.Nature communications · 2020Pooled it
- Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities.Stroke · 2020Pooled it
- Characterization of White Matter Hyperintensities in Large-Scale MRI-Studies.Frontiers in neurology · 2019Pooled it
- Pooled it
- Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies.The Lancet. Neurology · 2016Pooled it
- Candidate-gene analysis of white matter hyperintensities on neuroimaging.Journal of neurology, neurosurgery, and psychiatry · 2016Pooled it
- Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.Neurology · 2016Pooled it
- Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.Neurology · 2015Pooled it
- Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.American journal of human genetics · 2014Pooled it
- APOE genotype and MRI markers of cerebrovascular disease: systematic review and meta-analysis.Neurology · 2013Pooled it
- Pooled it
- Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2013Pooled it
- Menopausal hormone therapy, blood thrombogenicity, and development of white matter hyperintensities in women of the Kronos Early Estrogen Prevention Study.Menopause (New York, N.Y.) · 2020Trial
- Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.Circulation. Cardiovascular genetics · 2015Trial
- Multi-organ imaging genetics: towards an integrated view of brain, body and brain diseases.Nature reviews. Neurology · 2026Review
- Trim47 protects against hypoxic-ischaemic brain injury in neonatal rats by reducing brain microvascular endothelial inflammation and BBB disruption by interacting with ZO1.Acta pharmacologica Sinica · 2026Article
- Endothelial Cell TRIM47 Triggers Blood-Brain Barrier Disruption via CYLD Ubiquitination Degradation in an Intracerebral Hemorrhage Model.Neuroscience bulletin · 2026Article
- Genetic evidence links hypertension to accelerated brain aging.Biogerontology · 2026Article
70 more citing papers are in PubMed but not listed here.
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Authors and funding
63 authors.
Funding
Abstract
objectiveWhite matter hyperintensities (WMHs) detectable by magnetic resonance imaging are part of the spectrum of vascular injury associated with aging of the brain and are thought to reflect ischemic damage to the small deep cerebral vessels. WMHs are associated with an increased risk of cognitive and motor dysfunction, dementia, depression, and stroke. Despite a significant heritability, few genetic loci influencing WMH burden have been identified.
methodsWe performed a meta-analysis of genome-wide association studies (GWASs) for WMH burden in 9,361 stroke-free individuals of European descent from 7 community-based cohorts. Significant findings were tested for replication in 3,024 individuals from 2 additional cohorts.
resultsWe identified 6 novel risk-associated single nucleotide polymorphisms (SNPs) in 1 locus on chromosome 17q25 encompassing 6 known genes including WBP2, TRIM65, TRIM47, MRPL38, FBF1, and ACOX1. The most significant association was for rs3744028 (p(discovery) = 4.0 × 10(-9) ; p(replication) = 1.3 × 10(-7) ; p(combined) = 4.0 × 10(-15) ). Other SNPs in this region also reaching genome-wide significance were rs9894383 (p = 5.3 × 10(-9) ), rs11869977 (p = 5.7 × 10(-9) ), rs936393 (p = 6.8 × 10(-9) ), rs3744017 (p = 7.3 × 10(-9) ), and rs1055129 (p = 4.1 × 10(-8) ). Variant alleles at these loci conferred a small increase in WMH burden (4-8% of the overall mean WMH burden in the sample).
interpretationThis large GWAS of WMH burden in community-based cohorts of individuals of European descent identifies a novel locus on chromosome 17. Further characterization of this locus may provide novel insights into the pathogenesis of cerebral WMH.
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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.