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Rare and common variants analysis of the EMB gene in patients with schizophrenia

BACKGROUND: Recent genome-wide association study showed rs10940346 locus near EMB gene was significantly associated with schizophrenia and suggested that EMB gene is one of the potentially causal genes for schizophrenia, but no causal variant has been identified. Our study aims to further verify EMB...

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Autores principales: Zhou, Juan, Ma, Chuanchuan, Wang, Ke, Li, Xiuli, Zhang, Han, Chen, Jianhua, Li, Zhiqiang, Shi, Yongyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093976/
https://www.ncbi.nlm.nih.gov/pubmed/32213169
http://dx.doi.org/10.1186/s12888-020-02513-3
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author Zhou, Juan
Ma, Chuanchuan
Wang, Ke
Li, Xiuli
Zhang, Han
Chen, Jianhua
Li, Zhiqiang
Shi, Yongyong
author_facet Zhou, Juan
Ma, Chuanchuan
Wang, Ke
Li, Xiuli
Zhang, Han
Chen, Jianhua
Li, Zhiqiang
Shi, Yongyong
author_sort Zhou, Juan
collection PubMed
description BACKGROUND: Recent genome-wide association study showed rs10940346 locus near EMB gene was significantly associated with schizophrenia and suggested that EMB gene is one of the potentially causal genes for schizophrenia, but no causal variant has been identified. Our study aims to further verify EMB gene is a susceptibility gene for schizophrenia and to identify potentially causal variants in EMB gene that lead to schizophrenia. METHODS: Targeted sequencing for the un-translated region and all exons of EMB gene was performed among 1803 patients with schizophrenia and 997 healthy controls recruited from Chinese Han population. RESULTS: A total of 58 high-quality variants were identified in case and control groups. Seven of them are nonsynonymous rare variations, EMB: p.(Ala52Thr), p.(Glu66Gly), p.(Ser93Cys), p.(Ala118Val), p.(Ile131Met), p.(Gly163Arg) and p.(Arg238Tyr), but none of them reached statistical significance. Among them, p.(Ile131Met), p.(Gly163Arg) and p.(Arg238Tyr), were predicted to be deleterious variants. In addition, a common variant, rs3933097 located in 3′-UTR of EMB gene, achieved allelic and genotypic significance with schizophrenia (P(allele) = 3.82 × 10(− 6), P(genotype) = 3.18 × 10(− 5)). CONCLUSIONS: Our research first presented a comprehensive mutation spectrum of exons and un-translated region in EMB gene for schizophrenia and provided additional evidence of EMB gene being a susceptibility gene for schizophrenia. However, further functional validations are necessary to reveal its role in the etiology of schizophrenia.
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spelling pubmed-70939762020-03-27 Rare and common variants analysis of the EMB gene in patients with schizophrenia Zhou, Juan Ma, Chuanchuan Wang, Ke Li, Xiuli Zhang, Han Chen, Jianhua Li, Zhiqiang Shi, Yongyong BMC Psychiatry Research Article BACKGROUND: Recent genome-wide association study showed rs10940346 locus near EMB gene was significantly associated with schizophrenia and suggested that EMB gene is one of the potentially causal genes for schizophrenia, but no causal variant has been identified. Our study aims to further verify EMB gene is a susceptibility gene for schizophrenia and to identify potentially causal variants in EMB gene that lead to schizophrenia. METHODS: Targeted sequencing for the un-translated region and all exons of EMB gene was performed among 1803 patients with schizophrenia and 997 healthy controls recruited from Chinese Han population. RESULTS: A total of 58 high-quality variants were identified in case and control groups. Seven of them are nonsynonymous rare variations, EMB: p.(Ala52Thr), p.(Glu66Gly), p.(Ser93Cys), p.(Ala118Val), p.(Ile131Met), p.(Gly163Arg) and p.(Arg238Tyr), but none of them reached statistical significance. Among them, p.(Ile131Met), p.(Gly163Arg) and p.(Arg238Tyr), were predicted to be deleterious variants. In addition, a common variant, rs3933097 located in 3′-UTR of EMB gene, achieved allelic and genotypic significance with schizophrenia (P(allele) = 3.82 × 10(− 6), P(genotype) = 3.18 × 10(− 5)). CONCLUSIONS: Our research first presented a comprehensive mutation spectrum of exons and un-translated region in EMB gene for schizophrenia and provided additional evidence of EMB gene being a susceptibility gene for schizophrenia. However, further functional validations are necessary to reveal its role in the etiology of schizophrenia. BioMed Central 2020-03-25 /pmc/articles/PMC7093976/ /pubmed/32213169 http://dx.doi.org/10.1186/s12888-020-02513-3 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research Article
Zhou, Juan
Ma, Chuanchuan
Wang, Ke
Li, Xiuli
Zhang, Han
Chen, Jianhua
Li, Zhiqiang
Shi, Yongyong
Rare and common variants analysis of the EMB gene in patients with schizophrenia
title Rare and common variants analysis of the EMB gene in patients with schizophrenia
title_full Rare and common variants analysis of the EMB gene in patients with schizophrenia
title_fullStr Rare and common variants analysis of the EMB gene in patients with schizophrenia
title_full_unstemmed Rare and common variants analysis of the EMB gene in patients with schizophrenia
title_short Rare and common variants analysis of the EMB gene in patients with schizophrenia
title_sort rare and common variants analysis of the emb gene in patients with schizophrenia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093976/
https://www.ncbi.nlm.nih.gov/pubmed/32213169
http://dx.doi.org/10.1186/s12888-020-02513-3
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