In a study, researchers sought to examine data of high-coverage whole genome sequencing in 1162 cases of schizophrenia along with 936 ancestry-matched population controls. The primary objective of the study was to assess the role of schizophrenia etiology, without prior technologies, from an array of genetic variants available to whole genome sequencing. It was found that increased risk for schizophrenia was linked to ultrarare structural variants that impact boundaries of topologically associated domains. Dysregulation of gene expression may occur when topologically associated domain boundaries are altered. The researchers note that future research is needed to investigate the exact functional impacts of these variants on biology.

Reference: Halvorsen M, Huh R, Oskolkov N, et al. Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia [published correction appears in Nat Commun. 2022;13(1):191]. Nat Commun. 2020;11(1):1842. doi:10.1038/s41467-020-15707-w