{"title":"精神分裂症遗传学的最新进展。","authors":"Dimitrios Avramopoulos","doi":"10.1159/000488679","DOIUrl":null,"url":null,"abstract":"<p><p>The last decade brought tremendous progress in the field of schizophrenia genetics. As a result of extensive collaborations and multiple technological advances, we now recognize many types of genetic variants that increase the risk. These include large copy number variants, rare coding inherited and de novο variants, and over 100 loci harboring common risk variants. While the type and contribution to the risk vary among genetic variants, there is concordance in the functions of genes they implicate, such as those whose RNA binds the fragile X-related protein FMRP and members of the activity-regulated cytoskeletal complex involved in learning and memory. Gene expression studies add important information on the biology of the disease and recapitulate the same functional gene groups. Studies of alternative phenotypes help us widen our understanding of the genetic architecture of mental function and dysfunction, how diseases overlap not only with each other but also with non-disease phenotypes. The challenge is to apply this new knowledge to prevention and treatment and help patients. The data generated so far and emerging technologies, including new methods in cell engineering, offer significant promise that in the next decade we will unlock the translational potential of these significant discoveries.</p>","PeriodicalId":18957,"journal":{"name":"Molecular Neuropsychiatry","volume":"4 1","pages":"35-51"},"PeriodicalIF":0.0000,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032037/pdf/mnp-0004-0035.pdf","citationCount":"0","resultStr":"{\"title\":\"Recent Advances in the Genetics of Schizophrenia.\",\"authors\":\"Dimitrios Avramopoulos\",\"doi\":\"10.1159/000488679\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The last decade brought tremendous progress in the field of schizophrenia genetics. As a result of extensive collaborations and multiple technological advances, we now recognize many types of genetic variants that increase the risk. These include large copy number variants, rare coding inherited and de novο variants, and over 100 loci harboring common risk variants. While the type and contribution to the risk vary among genetic variants, there is concordance in the functions of genes they implicate, such as those whose RNA binds the fragile X-related protein FMRP and members of the activity-regulated cytoskeletal complex involved in learning and memory. Gene expression studies add important information on the biology of the disease and recapitulate the same functional gene groups. Studies of alternative phenotypes help us widen our understanding of the genetic architecture of mental function and dysfunction, how diseases overlap not only with each other but also with non-disease phenotypes. The challenge is to apply this new knowledge to prevention and treatment and help patients. The data generated so far and emerging technologies, including new methods in cell engineering, offer significant promise that in the next decade we will unlock the translational potential of these significant discoveries.</p>\",\"PeriodicalId\":18957,\"journal\":{\"name\":\"Molecular Neuropsychiatry\",\"volume\":\"4 1\",\"pages\":\"35-51\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032037/pdf/mnp-0004-0035.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Neuropsychiatry\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000488679\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2018/5/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Neuropsychiatry","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000488679","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2018/5/30 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
过去十年间,精神分裂症遗传学领域取得了巨大进步。由于广泛的合作和多种技术的进步,我们现在已经认识到多种类型的遗传变异会增加患病风险。这些变异包括大拷贝数变异、罕见编码遗传变异和新变异,以及 100 多个含有常见风险变异的基因位点。虽然不同基因变异的类型和对风险的影响各不相同,但它们所涉及的基因功能是一致的,如其 RNA 与脆性 X 相关蛋白 FMRP 结合的基因,以及参与学习和记忆的活动调节细胞骨架复合体的成员。基因表达研究增加了有关疾病生物学的重要信息,并重现了相同的功能基因组。对替代表型的研究有助于我们拓宽对精神功能和功能障碍遗传结构的认识,了解疾病如何不仅相互重叠,而且还与非疾病表型重叠。我们面临的挑战是如何将这些新知识应用于预防和治疗,并为患者提供帮助。迄今为止产生的数据和新出现的技术,包括细胞工程的新方法,为我们在未来十年释放这些重大发现的转化潜力带来了巨大希望。
The last decade brought tremendous progress in the field of schizophrenia genetics. As a result of extensive collaborations and multiple technological advances, we now recognize many types of genetic variants that increase the risk. These include large copy number variants, rare coding inherited and de novο variants, and over 100 loci harboring common risk variants. While the type and contribution to the risk vary among genetic variants, there is concordance in the functions of genes they implicate, such as those whose RNA binds the fragile X-related protein FMRP and members of the activity-regulated cytoskeletal complex involved in learning and memory. Gene expression studies add important information on the biology of the disease and recapitulate the same functional gene groups. Studies of alternative phenotypes help us widen our understanding of the genetic architecture of mental function and dysfunction, how diseases overlap not only with each other but also with non-disease phenotypes. The challenge is to apply this new knowledge to prevention and treatment and help patients. The data generated so far and emerging technologies, including new methods in cell engineering, offer significant promise that in the next decade we will unlock the translational potential of these significant discoveries.