Association analyses using resting-state functional magnetic resonance images identify common genetic variants influencing intrinsic brain activity. Variation in brain function is genetically correlated with several neuropsychiatric traits.
A multi-ancestry expression quantitative trait locus meta-analysis of 3,983 RNA-seq samples from 2,119 donors using the multivariate multiple QTL (mmQTL) approach characterizes the genetics of gene expression in the human brain and identifies candidate causal variants for brain-related traits.
RNAseq and ATACseq are utilized to identify transcription factors participating in striatal compartmentation into striosome and matrix, and roles for Stat1, Olig2, and Foxf2 are validated in vitro and in vivo.
Transcriptomic and epigenomic profiling of human microglia identifies putative gene regulatory mechanisms for 21 Alzheimer’s disease (AD) risk loci. SPI1/PU.1 is nominated as a key regulator of microglia gene expression and AD risk.
Here, we found enrichment of coexpression modules for sex-by-diagnosis differential expression signatures, which were highly reproducible across the two cohorts and involved a number of diverse pathways, including neural nucleus development, neuron projection morphogenesis, and regulation of neural precursor cell proliferation.
This study integrates Alzheimer’s disease (AD) GWAS data with myeloid cell genomics, and reports that myeloid active enhancers are most burdened by AD risk alleles. The authors also nominate candidate causal regulatory elements, variants and genes that likely modulate the risk for AD.
Brain regions communicate with each other through tracts of myelinated axons, commonly referred to as white matter. We identified common genetic variants influencing white matter microstructure using diffusion magnetic resonance imaging of 43,802 individuals.
Here, the authors perform ATAC-seq on four distinct cell populations from three different regions of the human brain, finding that chromatin accessibility varies greatly by cell type and less by brain region. This study reveals differences in biological function and gene regulation, as well as overlap of genetic variants associated with schizophrenia and other neuropsychiatric traits.
A comprehensive evaluation of genomic interaction of schizophrenia with other medical conditions derived from HiC interactions within midbrain dopaminergic neurons.