ArticleBrain structure & function2019
eQTL of KCNK2 regionally influences the brain sulcal widening: evidence from 15,597 UK Biobank participants with neuroimaging data.
Article in Brain structure & function, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application.Molecular neurodegeneration · 2022Pooled it
- Deep neural networks and genome-wide associations reveal the polygenic architecture of local brain aging.GeroScience · 2026Article
- Genetic insights on the mechanisms of human cortical folding.bioRxiv : the preprint server for biology · 2026Article
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Genome-wide analysis of brain age identifies 59 associated loci and unveils relationships with mental and physical health.Nature aging · 2025Article
- Genetic Insights into Brain Morphology: a Genome-Wide Association Study of Cortical Thickness and TNeuroinformatics · 2025Article
- Molecular pathogenesis of Alzheimer's disease onset in a mouse model: effects of cannabidiol treatment.Frontiers in neuroscience · 2025Article
- A self-supervised learning framework for discovering cortical folding patterns under genetic influence: Application to the Anterior Cingulate Cortex.Imaging neuroscience (Cambridge, Mass.) · 2025Article
- The effects of genetic and modifiable risk factors on brain regions vulnerable to ageing and disease.Nature communications · 2024Article
- Genetic map of regional sulcal morphology in the human brain from UK biobank data.Nature communications · 2022Article
- The Two-Pore Domain Potassium Channel TREK-1 Promotes Blood-Brain Barrier Breakdown and Exacerbates Neuronal Death After Focal Cerebral Ischemia in Mice.Molecular neurobiology · 2022Article
- Advanced high-throughput plant phenotyping techniques for genome-wide association studies: A review.Journal of advanced research · 2022Review
- Orchestration of Ion Channels and Transporters in Neocortical Development and Neurological Disorders.Frontiers in neuroscience · 2022Review
- Browsing Multiple Subjects When the Atlas Adaptation Cannot Be AchievedFrontiers in neuroinformatics · 2022Article
- Genome-wide haplotype association study in imaging genetics using whole-brain sulcal openings of 16,304 UK Biobank subjects.European journal of human genetics : EJHG · 2021Article
- Intergenerational Transmission of Cortical Sulcal Patterns from Mothers to their Children.Cerebral cortex (New York, N.Y. : 1991) · 2021Article
- The reliability and heritability of cortical folds and their genetic correlations across hemispheres.Communications biology · 2020Article
- Brain age prediction using deep learning uncovers associated sequence variants.Nature communications · 2019Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
The grey and white matter volumes are known to reduce with age. This cortical shrinkage is visible on magnetic resonance images and is conveniently identified by the increased volume of cerebrospinal fluid in the sulci between two gyri. Here, we replicated this finding using the UK Biobank dataset and studied the genetic influence on these cortical features of aging. We divided all individuals genetically confirmed of British ancestry into two sub-cohorts (12,162 and 3435 subjects for discovery and replication samples, respectively). We found that the heritability of the sulcal opening ranges from 15 to 45% (SE = 4.8%). We identified 4 new loci that contribute to this opening, including one that also affects the sulci grey matter thickness. We identified the most significant variant (rs864736) on this locus as being an expression quantitative trait locus (eQTL) for the KCNK2 gene. This gene regulates the immune-cell into the central nervous system (CNS) and controls the CNS inflammation, which is implicated in cortical atrophy and cognitive decline. These results expand our knowledge of the genetic contribution to cortical shrinking and promote further investigation into these variants and genes in pathological context such as Alzheimer's disease in which brain shrinkage is a key biomarker.
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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.