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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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. |
format | Online Article Text |
id | pubmed-7093976 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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