Schizophrenia Bulletin — Scott Cunningham MD PhD, et al. | December 08, 2022
Patients with schizophrenia have an increased CNV burden, including rare CNVs that significantly increase the risk of schizophrenia. Identification of specific genes that are associated with schizophrenia is necessary to elucidate the neurobiology and pathophysiology of the disease.
The current study expanded what is known about the genetics of schizophrenia and the phenotypic heterogeneity of the disease.
Using chromosomal microarray and whole exome sequencing, CNVs were identified in 509 patients with treatment-resistant psychoses.
Of the 509 patients, 47 (9.2%) had 1 or more CNVs known to have or possibly have a neuropsychiatric disorder risk, and 24 (4.7%) had a CNV with a known neuropsychiatric disorder risk. The prevalence of schizophrenia-associated CNVs was 4.1%.
The most frequent CNVs were duplicates (16p11.2 and 15q11.2-q13.1) and deletions (22q11.2). Duplication of 15q11.2-q13.1 was independently associated with treatment resistance.