Perturbation of the insomnia <i>WDR90</i> GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, <i>PIG-Q</i>.

ABSTRACT: Although genome wide association studies (GWAS) have been crucial for the identification of loci associated with sleep traits and disorders, the method itself does not directly uncover the underlying causal variants and corresponding effector genes. The overwhelming majority of such variants reside in non-coding regions and are therefore presumed to impact the activity of cis-regulatory elements, such as enhancers. Our previously reported 'variant-to-gene mapping' effort in human induced pluripotent stem cell (iPSC)-derived neural progenitor cells (NPCs), combined with validation in both Drosophila and zebrafish, implicated PIG-Q as a functionally relevant gene at the insomnia 'WDR90' locus. However, importantly that effort did not characterize the corresponding

SUBMITTER: Sonti S 

PROVIDER: S-EPMC10462147 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature