Identification of rare mutations of the vasoactive intestinal peptide receptor 2 gene in schizophrenia.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Psychiatric Genetics Pub Date : 2022-06-01 Epub Date: 2022-03-31 DOI:10.1097/YPG.0000000000000313

Chia-Hsiang Chen, Min-Chih Cheng, Tsung-Ming Hu, Lieh-Yung Ping, Itaru Kushima, Branko Aleksic

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引用次数: 2

Abstract

Objective: 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.

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精神分裂症患者血管活性肠肽受体2基因罕见突变的鉴定。

目的：研究表明，包含血管活性肠肽受体2基因（VIPR2）的罕见拷贝数变异（CNVs）与精神分裂症有关，表明VIPR2是精神分裂症的危险基因。我们假设，除CNV外，一些患者可能存在罕见的致病性单核苷酸变异株（SNV）或VIPR2的小插入/缺失（Indel），并参与精神分裂症的发病机制。方法：对台湾慢性精神分裂症患者进行全基因组CNV分析，筛选VIPR2位点的CNV，并对VIPR2的所有外显子进行靶向测序，以寻找SNV和indel。此外，我们在516名患者中发现了6个超罕见的SNV，包括1个剪接SNV和5个错义SNV。计算机分析表明，这些SNV对VIPR2的功能有损害作用。结论：我们的研究结果支持了这样一种观点，即除了CNV之外，VIPR2罕见的致病性SNV可能与一些患者的精神分裂症发病机制有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Psychiatric Genetics 医学-神经科学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.