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Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia

Although the diagnoses based on phenomenology have many practical advantages, accumulating evidence shows that schizophrenia and autism spectrum disorder (ASD) share some overlap in genetics and clinical presentation. It remains largely unknown how ASD-associated polygenetic risk contributes to the...

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Autores principales: Qin, Yue, Kang, Jujiao, Jiao, Zeyu, Wang, Yi, Wang, Jiucun, Wang, Hongyan, Feng, Jianfeng, Jin, Li, Wang, Fei, Gong, Xiaohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506524/
https://www.ncbi.nlm.nih.gov/pubmed/32958750
http://dx.doi.org/10.1038/s41398-020-01001-2
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author Qin, Yue
Kang, Jujiao
Jiao, Zeyu
Wang, Yi
Wang, Jiucun
Wang, Hongyan
Feng, Jianfeng
Jin, Li
Wang, Fei
Gong, Xiaohong
author_facet Qin, Yue
Kang, Jujiao
Jiao, Zeyu
Wang, Yi
Wang, Jiucun
Wang, Hongyan
Feng, Jianfeng
Jin, Li
Wang, Fei
Gong, Xiaohong
author_sort Qin, Yue
collection PubMed
description Although the diagnoses based on phenomenology have many practical advantages, accumulating evidence shows that schizophrenia and autism spectrum disorder (ASD) share some overlap in genetics and clinical presentation. It remains largely unknown how ASD-associated polygenetic risk contributes to the pathogenesis of schizophrenia. In the present study, we calculated high-resolution ASD polygenic risk scores (ASD PRSs) and selected optimal ten ASD PRS with minimal P values in the association analysis of PRSs, with schizophrenia to assess the effect of ASD PRS on brain neural activity in schizophrenia cases and controls. We found that amplitude of low-frequency fluctuation in left amygdala was positively associated with ASD PRSs in our cohort. Correlation analysis of ASD PRSs with facial emotion recognition test identified the negative correlation of ASD PRSs with negative emotions in schizophrenia cases and controls. Finally, functional enrichment analysis of PRS genes revealed that neural system function and development, as well as signal transduction, were mainly enriched in PRS genes. Our results provide empirical evidence that polygenic risk for ASD contributes to schizophrenia by the intermediate phenotypes of left amygdala function and emotion recognition. It provides a promising strategy to understand the relationship between phenotypes and genotypes shared in mental disorders.
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spelling pubmed-75065242020-10-05 Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia Qin, Yue Kang, Jujiao Jiao, Zeyu Wang, Yi Wang, Jiucun Wang, Hongyan Feng, Jianfeng Jin, Li Wang, Fei Gong, Xiaohong Transl Psychiatry Article Although the diagnoses based on phenomenology have many practical advantages, accumulating evidence shows that schizophrenia and autism spectrum disorder (ASD) share some overlap in genetics and clinical presentation. It remains largely unknown how ASD-associated polygenetic risk contributes to the pathogenesis of schizophrenia. In the present study, we calculated high-resolution ASD polygenic risk scores (ASD PRSs) and selected optimal ten ASD PRS with minimal P values in the association analysis of PRSs, with schizophrenia to assess the effect of ASD PRS on brain neural activity in schizophrenia cases and controls. We found that amplitude of low-frequency fluctuation in left amygdala was positively associated with ASD PRSs in our cohort. Correlation analysis of ASD PRSs with facial emotion recognition test identified the negative correlation of ASD PRSs with negative emotions in schizophrenia cases and controls. Finally, functional enrichment analysis of PRS genes revealed that neural system function and development, as well as signal transduction, were mainly enriched in PRS genes. Our results provide empirical evidence that polygenic risk for ASD contributes to schizophrenia by the intermediate phenotypes of left amygdala function and emotion recognition. It provides a promising strategy to understand the relationship between phenotypes and genotypes shared in mental disorders. Nature Publishing Group UK 2020-09-21 /pmc/articles/PMC7506524/ /pubmed/32958750 http://dx.doi.org/10.1038/s41398-020-01001-2 Text en © The Author(s) 2020 Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Qin, Yue
Kang, Jujiao
Jiao, Zeyu
Wang, Yi
Wang, Jiucun
Wang, Hongyan
Feng, Jianfeng
Jin, Li
Wang, Fei
Gong, Xiaohong
Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia
title Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia
title_full Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia
title_fullStr Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia
title_full_unstemmed Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia
title_short Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia
title_sort polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506524/
https://www.ncbi.nlm.nih.gov/pubmed/32958750
http://dx.doi.org/10.1038/s41398-020-01001-2
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