Publications by authors named "Jin-Hua Huo"
Background: Genome-wide association studies (GWAS) have reported single-nucleotide polymorphisms (SNPs) in the VRK serine/threonine kinase 2 gene (VRK2) showing genome-wide significant associations with major depression, but the regulation effect of the risk SNPs on VRK2 as well as their roles in the illness are yet to be elucidated.
Methods: Based on the summary statistics of major depression GWAS, we conducted population genetic analyses, epigenome bioinformatics analyses, dual luciferase reporter assays, and expression quantitative trait loci (eQTL) analyses to identify the functional SNPs regulating VRK2; we also carried out behavioral assessments, dendritic spine morphological analyses, and phosphorylated 4D-label-free quantitative proteomics analyses in mice with Vrk2 repression.
Results: We identified a SNP rs2678907 located in the 5' upstream of VRK2 gene exhibiting large spatial overlap with enhancer regulatory marks in human neural cells and brain tissues.
Article Synopsis
- Schizophrenia and bipolar disorder share similarities in symptoms, genetic factors, and pathogenic mechanisms, with research highlighting a specific SNP (rs2251219) linked to both disorders, correlated with an Alu polymorphism (rs71052682) that influences gene expression.
- By employing various scientific methods, researchers discovered that deleting the Alu sequence reduced expression levels of the NISCH gene, which is found near the polymorphism, showing a potential connection to the risk of developing schizophrenia and bipolar disorder.
- Overexpressing NISCH in neurons led to alterations in dendritic spine density and impaired spatial memory in mice, suggesting a significant role of this gene in cognitive function and its potential implications for psychiatric treatment with specific medications.
Background: Bipolar disorder (BD) is a highly heritable psychiatric illness exhibiting substantial correlation with intelligence.
Methods: To investigate the shared genetic signatures between BD and intelligence, we utilized the summary statistics from genome-wide association studies (GWAS) to conduct the bivariate causal mixture model (MiXeR) and conjunctional false discovery rate (conjFDR) analyses. Subsequent expression quantitative trait loci (eQTL) mapping in human brain and enrichment analyses were also performed.