Aiguo Guo, Peng Lun, Jianhua Chen, Qinghua Li, Kaihui Chang, Teng Li, Dun Pan, Jinmai Zhang, Juan Zhou, Ke Wang, Qian Zhang, Qiangzhen Yang, Chengwen Gao, Chuanhong Wu, Xuemin Jian, Yanqin Wen, Zhuo Wang, Yongyong Shi, Xiangzhong Zhao, Peng Sun, Zhiqiang Li
{"title":"SCHEMA鉴定的中国汉族人群精神分裂症危险基因的关联分析。","authors":"Aiguo Guo, Peng Lun, Jianhua Chen, Qinghua Li, Kaihui Chang, Teng Li, Dun Pan, Jinmai Zhang, Juan Zhou, Ke Wang, Qian Zhang, Qiangzhen Yang, Chengwen Gao, Chuanhong Wu, Xuemin Jian, Yanqin Wen, Zhuo Wang, Yongyong Shi, Xiangzhong Zhao, Peng Sun, Zhiqiang Li","doi":"10.1097/YPG.0000000000000321","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Schizophrenia is a chronic brain disorder. Previously, the Schizophrenia Exome Sequencing Meta-analysis consortium identified 10 highest risk genes related to schizophrenia. This study aimed to analyze the relationship between the 10 highest risk genes identified by the SCHEMA and schizophrenia in a Chinese population.</p><p><strong>Methods: </strong>A total of 225 variants in 10 genes were screened in a Chinese population of 6836 using a customized array. All variants were annotated through the Variant Effect Predictor tool, and the functional impacts of missense variants were assessed based on sorting intolerant from tolerant and PolyPhen-2 scores. The SHEsisPlus tool was used to analyze the association between risk genes and schizophrenia at the locus and gene levels.</p><p><strong>Results: </strong>At the locus level, no missense variants significantly related to schizophrenia were found, but we detected three missense variants that appeared only in cases, including TRIO p. Arg1185Gln, RB1CC1 p. Arg1514Cys, and HERC1 p. Val4517Leu. At the gene level, five genes (TRIO, RB1CC1, HERC1, GRIN2A, and CACAN1G) with more than one variant analyzed were kept for the gene-level association analysis. Only the association between RB1CC1 and schizophrenia reached a significant level (OR = 1.634; 95% CI, 1.062-2.516; P = 0.025).</p><p><strong>Conclusion: </strong>In this study, we determined that RB1CC1 might be a risk gene for schizophrenia in the Chinese population. Our results provide new evidence for recognizing the correlation of these risk genes with the Chinese schizophrenia population.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":null,"pages":null},"PeriodicalIF":1.5000,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population.\",\"authors\":\"Aiguo Guo, Peng Lun, Jianhua Chen, Qinghua Li, Kaihui Chang, Teng Li, Dun Pan, Jinmai Zhang, Juan Zhou, Ke Wang, Qian Zhang, Qiangzhen Yang, Chengwen Gao, Chuanhong Wu, Xuemin Jian, Yanqin Wen, Zhuo Wang, Yongyong Shi, Xiangzhong Zhao, Peng Sun, Zhiqiang Li\",\"doi\":\"10.1097/YPG.0000000000000321\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Schizophrenia is a chronic brain disorder. Previously, the Schizophrenia Exome Sequencing Meta-analysis consortium identified 10 highest risk genes related to schizophrenia. This study aimed to analyze the relationship between the 10 highest risk genes identified by the SCHEMA and schizophrenia in a Chinese population.</p><p><strong>Methods: </strong>A total of 225 variants in 10 genes were screened in a Chinese population of 6836 using a customized array. All variants were annotated through the Variant Effect Predictor tool, and the functional impacts of missense variants were assessed based on sorting intolerant from tolerant and PolyPhen-2 scores. The SHEsisPlus tool was used to analyze the association between risk genes and schizophrenia at the locus and gene levels.</p><p><strong>Results: </strong>At the locus level, no missense variants significantly related to schizophrenia were found, but we detected three missense variants that appeared only in cases, including TRIO p. Arg1185Gln, RB1CC1 p. Arg1514Cys, and HERC1 p. Val4517Leu. At the gene level, five genes (TRIO, RB1CC1, HERC1, GRIN2A, and CACAN1G) with more than one variant analyzed were kept for the gene-level association analysis. Only the association between RB1CC1 and schizophrenia reached a significant level (OR = 1.634; 95% CI, 1.062-2.516; P = 0.025).</p><p><strong>Conclusion: </strong>In this study, we determined that RB1CC1 might be a risk gene for schizophrenia in the Chinese population. Our results provide new evidence for recognizing the correlation of these risk genes with the Chinese schizophrenia population.</p>\",\"PeriodicalId\":20734,\"journal\":{\"name\":\"Psychiatric Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2022-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Psychiatric Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/YPG.0000000000000321\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/9/14 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Psychiatric Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/YPG.0000000000000321","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/9/14 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population.
Background: Schizophrenia is a chronic brain disorder. Previously, the Schizophrenia Exome Sequencing Meta-analysis consortium identified 10 highest risk genes related to schizophrenia. This study aimed to analyze the relationship between the 10 highest risk genes identified by the SCHEMA and schizophrenia in a Chinese population.
Methods: A total of 225 variants in 10 genes were screened in a Chinese population of 6836 using a customized array. All variants were annotated through the Variant Effect Predictor tool, and the functional impacts of missense variants were assessed based on sorting intolerant from tolerant and PolyPhen-2 scores. The SHEsisPlus tool was used to analyze the association between risk genes and schizophrenia at the locus and gene levels.
Results: At the locus level, no missense variants significantly related to schizophrenia were found, but we detected three missense variants that appeared only in cases, including TRIO p. Arg1185Gln, RB1CC1 p. Arg1514Cys, and HERC1 p. Val4517Leu. At the gene level, five genes (TRIO, RB1CC1, HERC1, GRIN2A, and CACAN1G) with more than one variant analyzed were kept for the gene-level association analysis. Only the association between RB1CC1 and schizophrenia reached a significant level (OR = 1.634; 95% CI, 1.062-2.516; P = 0.025).
Conclusion: In this study, we determined that RB1CC1 might be a risk gene for schizophrenia in the Chinese population. Our results provide new evidence for recognizing the correlation of these risk genes with the Chinese schizophrenia population.
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.
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