In:
Psychiatric Genetics, Ovid Technologies (Wolters Kluwer Health), Vol. 32, No. 3 ( 2022-06), p. 125-130
Abstract:
Studies showed that rare copy number variations (CNVs) encompassing the vasoactive intestinal peptide receptor 2 gene ( VIPR2 ) were associated with schizophrenia, indicating VIPR2 is a risk gene for schizophrenia. We hypothesized that besides CNV, rare pathogenic single-nucleotide variant (SNV) or small insertion/deletion (Indel) of VIPR2 might be present in some patients and contribute to the pathogenesis of schizophrenia. Methods We performed genome-wide CNV analysis to screen CNV at the VIPR2 locus and targeted sequencing of all the exons of VIPR2 to search for SNV and indel in a sample of patients with chronic schizophrenia from Taiwan. Results We detected a 230-kb microduplication encompassing the VIPR2 in 1 out of 200 patients. Furthermore, we identified six ultrarare SNVs, including one splicing SNV and five missense SNVs, in 516 patients. In-silico analyses showed these SNVs had a damaging effect on the function of VIPR2 . Conclusion Our findings support the idea that besides CNV, rare pathogenic SNVs of VIPR2 might contribute to the pathogenesis of schizophrenia in some patients.
Type of Medium:
Online Resource
ISSN:
0955-8829
DOI:
10.1097/YPG.0000000000000313
Language:
English
Publisher:
Ovid Technologies (Wolters Kluwer Health)
Publication Date:
2022
detail.hit.zdb_id:
2063156-X
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