切换至 "中华医学电子期刊资源库"

中华诊断学电子杂志 ›› 2021, Vol. 09 ›› Issue (03) : 149 -151. doi: 10.3877/cma.j.issn.2095-655X.2021.03.002

精神疾病诊治

多基因风险分数在精神分裂症预防与预测中的应用与挑战
李俏俊1,(), 吕兴平2, 徐佳圆3, 禚传君4   
  1. 1. 300134 天津商业大学信息工程学院
    2. 300134 天津商业大学理学院
    3. 300052 天津医科大学总医院医学影像科
    4. 300140 天津市第四中心医院实时脑环路重点实验室
  • 收稿日期:2021-02-26 出版日期:2021-08-26
  • 通信作者: 李俏俊
  • 基金资助:
    国家自然科学基金青年项目(81801687)

Application and challenge of polygenic risk score in prevention and prediction of schizophrenia

Qiaojun Li1,(), Xingping Lyu2, Jiayuan Xu3, Chuanjun Zhuo4   

  1. 1. School of Information Engineering, Tianjin University of Commerce, Tianjin 300134, China
    2. School of Science, Tianjin University of Commerce, Tianjin 300134, China
    3. Department of Radiology, Tianjin Medical University General Hospital, Tianjin 300052, China
    4. Key Laboratory of Real-time Brain Circuits, Tianjin Fourth Center Hospital, Tianjin 300140, China
  • Received:2021-02-26 Published:2021-08-26
  • Corresponding author: Qiaojun Li
引用本文:

李俏俊, 吕兴平, 徐佳圆, 禚传君. 多基因风险分数在精神分裂症预防与预测中的应用与挑战[J/OL]. 中华诊断学电子杂志, 2021, 09(03): 149-151.

Qiaojun Li, Xingping Lyu, Jiayuan Xu, Chuanjun Zhuo. Application and challenge of polygenic risk score in prevention and prediction of schizophrenia[J/OL]. Chinese Journal of Diagnostics(Electronic Edition), 2021, 09(03): 149-151.

精神分裂症是遗传度较高的复杂性疾病,基于候选基因研究和全基因组关联分析两种方法,已发现众多与之相关的易感性位点。近年来,多基因风险分数(PRS)可以在对精神分裂症风险人群进行初步的诊断、鉴别、预测等方面中发挥重要的辅助作用,并且为今后的精神分裂症潜在人群的早期预防和治疗提供重要助力。笔者就精神分裂症预防与预测中PRS的应用与挑战进行论述。

Schizophrenia is a complex disease with high heritability. Many susceptibility loci have been found in candidate genes and genome-wide association studies. Recently, polygenic risk score (PRS) has been playing an important role in the diagnosis, discrimination, and prediction of schizophrenia. Also, PRS could provide important assistance for the early prevention and treatment of potential schizophrenics in the future. This article discusses the application and challenges of PRS in the prevention and prediction of schizophrenia.

[1]
Lewis DA, Levitt P.Schizophrenia as a disorder of neurodevelopment[J].Annu Rev Neurosci,2002,25(1): 409-432.
[2]
Kahn RS, Sommer IE, Murray RM,et al.Schizophrenia[J].Nat Rev Dis Prim,2015(1): 15067.
[3]
McCutcheon RA, Marques TR, Howes OD.Schizophrenia:an overview[J].JAMA Psychiatry,2020,77(2): 201-210.
[4]
Sullivan PF, Kendler KS, Neale MC.Schizophrenia as a complex trait:evidence from a meta-analysis of twin studies[J].Arch Gen Psychiatry,2003,60(12): 1187.
[5]
Schizophrenia Working Group of the Psychiatric Genomics Consortium.Biological insights from 108 schizophrenia-associated genetic loci[J].Nature,2014,511(7510): 421-427.
[6]
Pardiñas AF, Holmans P, Pocklington AJ,et al.Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection[J].Nat Genet,2018,50(3): 381-389.
[7]
Purcell SM, Wray NR, Stone JL,et al.Common polygenic variation contributes to risk of schizophrenia and bipolar disorder[J].Nature,2009,460(7256): 748-752.
[8]
Murray GK, Lin T, Austin J,et al.Could polygenic risk scores be useful in psychiatry? [J].JAMA Psychiatry,2021,78(2): 210.
[9]
Fusar-Poli P, Bonoldi I, Yung AR, et al. Predicting psychosis: meta-analysis of transition outcomes in individuals at high clinical risk[J].Arch Gen Psychiatry,2012,69(3): 220-229.
[10]
Vassos E, Di Forti M, Coleman J,et al.An examination of polygenic score risk prediction in individuals with first-episode psychosis[J].Biol Psychiatry,2017,81(6): 470-477.
[11]
Perkins DO, Olde Loohuis L, Barbee J,et al.Polygenic risk score contribution to psychosis prediction in a target population of persons at clinical high risk[J].Am J Psychiatry,2020,177(2): 155-163.
[12]
Ruderfer DM, Ripke S, McQuillin A,et al.Genomic dissection of bipolar disorder and schizophrenia,including 28 subphenotypes[J].Cell,2018,173(7): 1705-1715.
[13]
Allardyce J, Leonenko G, Hamshere M,et al.Association between schizophrenia-related polygenic liability and the occurrence and level of mood-incongruent psychotic symptoms in bipolar disorder[J].JAMA Psychiatry,2018,75(1): 28.
[14]
Zhang JP, Robinson D, Yu J,et al.Schizophrenia polygenic risk score as a predictor of antipsychotic efficacy in first-episode psychosis[J].Am J Psychiatry,2019,176(1): 21-28.
[15]
Meier SM, Agerbo E, Maier R,et al.High loading of polygenic risk in cases with chronic schizophrenia[J].Mol Psychiatry,2016,21(7): 969-974.
[16]
Wray NR, Lin T, Austin J,et al.From basic science to clinical application of polygenic risk scores[J].JAMA Psychiatry,2021,78(1): 101.
[17]
Lam M, Chen CY, Li Z,et al.Comparative genetic architectures of schizophrenia in East Asian and European populations[J].Nat Genet,2019,51(12): 1670-1678.
[18]
Assary E, Vincent JP, Keers R,et al.Gene-environment interaction and psychiatric disorders:review and future directions[J].Semin Cell Dev Biol,2018(77): 133-143.
[19]
禚传君,Triplett P, Ciprini A,et al.基于脑影像和机器学习的抑郁型精神分裂症早期定性诊断预测模型展望[J/CD].中华诊断学电子杂志,2018,6(1): 1-8.
[20]
Li A, Zalesky A, Yue W,et al.A neuroimaging biomarker for striatal dysfunction in schizophrenia[J].Nat Med,2020,26(4): 558-565.
[1] 洪玮, 叶细容, 刘枝红, 杨银凤, 吕志红. 超声影像组学联合临床病理特征预测乳腺癌新辅助化疗完全病理缓解的价值[J/OL]. 中华医学超声杂志(电子版), 2024, 21(06): 571-579.
[2] 奚玲, 仝瀚文, 缪骥, 毛永欢, 沈晓菲, 杜峻峰, 刘晔. 基于肌少症构建的造口旁疝危险因素预测模型[J/OL]. 中华普外科手术学杂志(电子版), 2025, 19(01): 48-51.
[3] 屈勤芳, 束方莲. 盆腔器官脱垂患者盆底重建手术后压力性尿失禁发生的影响因素及列线图预测模型构建[J/OL]. 中华腔镜泌尿外科杂志(电子版), 2024, 18(06): 606-612.
[4] 江志鹏, 钟克力, 陈双. 复杂腹壁疝手术后腹腔高压与腹腔间室综合征的预防和处理[J/OL]. 中华疝和腹壁外科杂志(电子版), 2024, 18(06): 612-615.
[5] 王学虎, 赵渝. 复杂腹壁疝手术中血管损伤并发症的预防和处理[J/OL]. 中华疝和腹壁外科杂志(电子版), 2024, 18(06): 616-619.
[6] 林凯, 潘勇, 赵高平, 杨春. 造口还纳术后切口疝的危险因素分析与预防策略[J/OL]. 中华疝和腹壁外科杂志(电子版), 2024, 18(06): 634-638.
[7] 公宇, 廖媛, 尚梅. 肝细胞癌TACE术后复发影响因素及预测模型建立[J/OL]. 中华肝脏外科手术学电子杂志, 2024, 13(06): 818-824.
[8] 王贝贝, 崔振义, 王静, 王晗妍, 吕红芝, 李秀婷. 老年股骨粗隆间骨折患者术后贫血预测模型的构建与验证[J/OL]. 中华老年骨科与康复电子杂志, 2024, 10(06): 355-362.
[9] 孙晗, 于冰, 武侠, 周熙朗. 基于循环肿瘤DNA 甲基化的结直肠癌筛查预测模型的构建与验证[J/OL]. 中华消化病与影像杂志(电子版), 2024, 14(06): 500-506.
[10] 韦巧玲, 黄妍, 赵昌, 宋庆峰, 陈祖毅, 黄莹, 蒙嫦, 黄靖. 肝癌微波消融术后中重度疼痛风险预测列线图模型构建及验证[J/OL]. 中华临床医师杂志(电子版), 2024, 18(08): 715-721.
[11] 蔡晓雯, 李慧景, 丘婕, 杨翼帆, 吴素贤, 林玉彤, 何秋娜. 肝癌患者肝动脉化疗栓塞术后疼痛风险预测模型的构建及验证[J/OL]. 中华临床医师杂志(电子版), 2024, 18(08): 722-728.
[12] 王誉英, 刘世伟, 王睿, 曾娅玲, 涂禧慧, 张蒲蓉. 老年乳腺癌新辅助治疗病理完全缓解的预测因素分析[J/OL]. 中华临床医师杂志(电子版), 2024, 18(07): 641-646.
[13] 董晟, 郎胜坤, 葛新, 孙少君, 薛明宇. 反向休克指数乘以格拉斯哥昏迷评分对老年严重创伤患者发生急性创伤性凝血功能障碍的预测价值[J/OL]. 中华临床医师杂志(电子版), 2024, 18(06): 541-547.
[14] 黄圣楷, 许斌, 苏健, 孙龙. 海南省2010~2020年乙型肝炎流行趋势的时间序列分析及预测[J/OL]. 中华临床医师杂志(电子版), 2024, 18(06): 555-561.
[15] 孙志军, 梁立丰, 柳晓娜, 杨汪洋, 邸北冰, 张妮潇, 彭晖. 接受ICM 的不明原因晕厥患者需行起搏治疗的临床预测因素分析[J/OL]. 中华脑血管病杂志(电子版), 2024, 18(05): 446-453.
阅读次数
全文


摘要