ArticlemedRxiv : the preprint server for health sciences2025
SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders.
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Most genetic risk variants for neurological diseases are located in non-coding regulatory regions, where they may often act as expression quantitative trait loci (eQTLs), modulating gene expression and influencing disease susceptibility. However, eQTL studies in bulk brain tissue or specific cell types lack the resolution to capture the brain's cellular diversity. Single-nucleus RNA sequencing (snRNA-seq) offers high-resolution mapping of eQTLs across diverse brain cell types. Here, we performed a meta-analysis, "SingleBrain," integrating publicly available snRNA-seq and genotype data from four cohorts, totaling 5.8 million nuclei from 983 individuals. We mapped
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