SCHEMA鉴定的中国汉族人群精神分裂症危险基因的关联分析。

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Psychiatric Genetics Pub Date : 2022-10-01 Epub Date: 2022-09-14 DOI:10.1097/YPG.0000000000000321

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

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引用次数: 2

摘要

背景：精神分裂症是一种慢性脑部疾病。此前，精神分裂症外显子组测序荟萃分析联盟确定了10个与精神分裂症相关的最高风险基因。本研究旨在分析中国人群中由SCHEMA鉴定的10个最高风险基因与精神分裂症之间的关系。方法：在6836名中国人群中，使用定制阵列筛选出10个基因中的225个变体。所有变体都通过变体效应预测工具进行注释，并根据不耐受与耐受的分类和PolyPhen-2评分来评估错义变体的功能影响。SHEsisPlus工具用于从基因座和基因水平分析危险基因与精神分裂症之间的相关性。结果：在基因座水平上，没有发现与精神分裂症显著相关的错义变体，但我们检测到三种仅在病例中出现的错义变异，包括TRIO p.Arg1185Gln、RB1CC1 p.Arg1514Cys和HERC1 p.Val4517Leu。在基因水平上，保留了五个具有一个以上变体的基因（TRIO、RB1CC1、HERC1、GRIN2A和CACAN1G）进行基因水平的关联分析。只有RB1CC1与精神分裂症之间的相关性达到显著水平（OR=1.634；95%CI1.062-2.516；P=0.025）。结论：本研究确定RB1CC1可能是中国人群中精神分裂症的危险基因。我们的研究结果为认识这些危险基因与中国精神分裂症人群的相关性提供了新的证据。

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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.

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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.