Identification of VIPR2 rare and common variants in the Chinese Han population with schizophrenia

Jiajun Yin; Juan Zhou; Fang Fang; Shui Yu; Jun Wang; Jianmin Yuan; Zhenhe Zhou

doi:10.3389/fnmol.2023.1170708

Identification of VIPR2 rare and common variants in the Chinese Han population with schizophrenia

Front Mol Neurosci. 2023 Apr 27:16:1170708. doi: 10.3389/fnmol.2023.1170708. eCollection 2023.

Authors

Jiajun Yin¹, Juan Zhou², Fang Fang¹, Shui Yu¹, Jun Wang¹, Jianmin Yuan¹, Zhenhe Zhou¹

Affiliations

¹ The Affiliated Wuxi Mental Health Center of Jiangnan University, Wuxi Central Rehabilitation Hospital, Wuxi, China.
² Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China.

Abstract

Introduction: Schizophrenia is a severe and chronic psychiatric disorder with hereditary risk up to 80% as previous studies indicated. Several researches have demonstrated a significant association between schizophrenia and microduplications that overlap the vasoactive intestinal peptide receptor 2 gene (VIPR2).

Methods: To further investigate potential causal VIPR2 gene variants, all exons and un-translated portions of the VIPR2 gene were sequenced using amplicon targeted resequencing in 1804 Chinese Han patients with schizophrenia and 996 healthy counterparts in the present study.

Results: Nineteen rare non-synonymous mutations and 1 frameshift deletion was identified for schizophrenia, among which 5 variants have never been reported so far. Frequencies of rare non-synonymous mutations were significantly different between the two groups. Specifically, the non-synonymous mutation rs78564798 (P_allele = 0.006) as well as two rare variations in the VIPR2 gene's introns (rs372544903, P_allele = 0.026 and a novel mutation, chr7:159034078, GRCh38, P_allele = 0.048) were significantly associated with schizophrenia.

Discussion: Our findings add new evidence that the functional and probable causative variants of VIPR2 gene may play an important role in susceptibility to schizophrenia. Further studies on validations of VIPR2's function in the etiology of schizophrenia are warranted.

Keywords: VIPR2 gene; amplicon targeted resequencing; association study; causative variants; schizophrenia.