rs111897684 (LINC02058): Cortical Brain Structure
Key takeaways
- Found in a genome-wide scan of roughly 49,000 people linking genetic variants to regional brain cortex structure
- Sits near LINC02058, a long non-coding RNA, and LDHBP3, a pseudogene - both in non-protein-coding DNA
- The genetic effects on cortical structure seen in adults largely held up when tested in children
- Associated loci as a group connect to neuropsychiatric risk pathways and early brain development
- This is a discovery-level finding; effect sizes for this specific variant alone were not published
Key takeaways
- Identified in a genome-wide scan of roughly 49,000 adults and children as one of hundreds of loci linked to regional cortical brain structure
- Located near LDHBP3 (a non-functional pseudogene) and LINC02058 (a long intergenic non-coding RNA), placing it in a non-protein-coding part of the genome
- Genetic effects on cortical structure found in adults largely held when tested in children, pointing to early neurodevelopmental origins
- Associated loci as a group are enriched for non-coding DNA and connected to neuropsychiatric risk pathways
- Evidence is discovery-level; individual effect sizes for this specific variant were not reported in the source study
What the research says A genome-wide association study (GWAS - a large-scale scan testing millions of genetic variants for statistical association with a measured trait) examined regional cortical surface area and thickness in 39,898 adults and 9,136 children, identifying 800 genome-wide significant loci in a combined meta-analysis across three cohorts. The discovered loci were enriched for non-coding genomic regions (44.0% intronic variants, 33.4% intergenic, 17.7% non-coding RNA regions) and were linked to early neurodevelopmental pathways and neuropsychiatric risk. Genetic effects estimated in adults showed significant correlations with effects in children (beta correlation range r=0.46-0.92 across phenotypes), indicating that the genetic architecture of cortical structure is largely consistent from childhood onward.
Reported associations
- Regional cortical surface area or thickness: rs111897684 was identified as one of 800 genome-wide significant loci associated with regional cortical morphology measures across adults and children in the source study
- Neurodevelopmental patterning: The class of loci discovered in this study, which includes this locus, was linked to early neurodevelopment and pathways relevant to neuropsychiatric conditions
Evidence quality The discovering study used a primary cohort of 32,488 UK Biobank adults, with replication in 7,410 additional individuals and generalization to 9,136 children from the Adolescent Brain Cognitive Development (ABCD) Study. Genome-wide significance was set at p<5e-8, with a stricter multiple-comparison threshold of p<2.27e-9 applied after correction for 22 effective independent traits. Beta correlations between discovery and replication samples ranged from r=0.66-0.95. The meta-analysis identified 800 genome-wide significant loci, of which 526 were judged independent. However, the source text does not report individual p-values, odds ratios, or beta coefficients for rs111897684 specifically. As one of hundreds of discovered loci without dedicated single-variant replication reporting, the evidence for this particular locus should be treated as preliminary.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs111897684?
rs111897684 is a common genetic variant in the region between LDHBP3 (lactate dehydrogenase B pseudogene 3, a non-functional gene copy) and LINC02058 (a long intergenic non-coding RNA). It was identified in a large brain imaging genetics study as one of hundreds of loci associated with the structure of the cerebral cortex.
What genes are near rs111897684?
This variant sits between LDHBP3, a non-functional pseudogene, and LINC02058, a long intergenic non-coding RNA that does not encode a protein. This places the variant in a regulatory rather than protein-coding region of the genome.
Is rs111897684 linked to brain structure?
It was identified as one of hundreds of genome-wide significant loci in a study examining regional cortical surface area and thickness in nearly 40,000 adults and over 9,000 children. Specific effect sizes for this variant were not individually reported in the source study.
What is cortical surface area?
Cortical surface area refers to the total size of the folded outer layer of the brain. Alongside cortical thickness, it is a key measure of brain morphology and has been associated with cognitive development and neuropsychiatric conditions in research studies.
How reliable is the evidence for this variant?
The variant was discovered in a large, well-powered study with replication and generalization to a child cohort. However, the source study does not report individual effect sizes or p-values for rs111897684 specifically, so this should be treated as a preliminary discovery-level finding.