Fig. 6: Association of cell type-specific CREs with risk SNPs of various brain disorders and human traits.
From: Single-cell spatial map of cis-regulatory elements for disease-related genes in the macaque cortex
a Heatmap showing the enrichment of cell type-specific CREs containing risk SNPs of various brain disorders and human traits for all neuronal and non-neuronal cell types from snATAC-seq data of the macaque cortex. Intensity of the red color codes LDSC enrichment score (defined as -log10 P values, with P representing the probability of CREs containing risk SNPs). Black triangles mark the two brain disorders with most prominent enrichment probabilities. AjD: adjustment disorder, AUD: alcohol dependence, AD: Alzheimer disease, AMN: amnesia, GAD: anxiety disorder, ADHD: Attention deficit hyperactivity disorder, ASD: Autism spectrum disorder, BP: bipolar disorder, MDD: Major depression disorder, CD: cognitive disorder, GE: generalized epilepsy, ID: Insomnia, LBD: Lewy body dementia, OUD: opioid dependence, PaD: panic disorder, PD: Parkinson Disease, PE: partial epilepsy, PS: psychosis, SCZ: Schizophrenia, TS: Tourette syndrome, CGF, IQ: Intelligence, cognitive function, MTP: Morning Person, RT: reaction time, SWB: subjective well-being, YED: Years of Education, BMI: Body mass index, CAD: coronary artery disease. b Boxplot showing the relative enrichment levels of 223 cell types across different diseases in a. Significant difference was observed among different diseases (P < 1e-20, Kruskal-Wallis test). Center line, median; box limits, 25th–75th percentiles; whiskers, 1.5 × IQR; points beyond, outliers. c Heatmap showing the Pearson correlation coefficients for the association of cell type-specific CREs with disease risk SNPs loci for various brain disorders. Star marked the high similarity in disease risk SNP-associated cell type-specific CREs between schizophrenia and bipolar disorder. d Genome browser tracks showing chromatin accessibility of CREs for gene ADNP that contain risk SNPs (marked by dots) of both SCZ (schizophrenia) and BP (bipolar disorder). The arrow line indicates the targeted gene ADNP. e Spatial maps of cell type-enriched CREs containing SCZ- and BP-associated SNPs loci shown in d at three representative sections along the coronal coordinates, indicating the layer-specific distribution of the CRE for ADNP. The sample sizes are listed in Supplementary Data 10. Error bars represent SEM.
