Scientists from the bat365线上平台 have participated in large genetic studies that have pinpointed genes and biological mechanisms that home in on the root causes of schizophrenia.
在这项具有里程碑意义的基因研究中，有超过121人,000人, an international consortium called SCHEMA (SCHizophrenia Exome Meta-Analysis), 由麻省理工学院布罗德研究所的研究人员领导, Harvard and involving the Universities of 阿伯丁 and Edinburgh has identified extremely rare mutations in 10 genes that strongly increase an individual's risk of developing schizophrenia — in one instance, 超过20倍.
“总的来说, any given person has a roughly one percent chance of developing schizophrenia in their lifetime,本杰明·尼尔教授说, SCHEMA研究的合著者. "But if you have one of these mutations, it becomes a 10, 20, even 50 percent chance."
第二个, 在一个更大但重叠的320人的小组中进行补充研究,400人, 由精神病学基因组学联盟(PGC), also involving the bat365线上平台 and the University of Edinburgh, brings to 287 the number of regions of the genome associated with schizophrenia risk, 包括包含由SCHEMA识别的基因.
这两项研究同时发表在该杂志上 自然. 在一起, these studies underscore an emerging view of schizophrenia as a breakdown in communication at the synapse (the junction between neurons) and illustrate how different kinds of genetic variation affecting the same genes can influence the risk for different psychiatric and neurodevelopmental disorders.
名誉教授David St Clair of the bat365线上平台, said: “I am delighted that 阿伯丁 and Edinburgh universities have taken part in these truly global ongoing collaborative endeavours to unravel the complex genetic basis of schizophrenia.”
Tarjinder Singh from Stanley Center for Psychiatric 研究 at the Broad Institute, 他说:“不像心血管疾病或癌症, we have very few biological clues to psychiatric disorders mechanisms.”
Professor Neale added: “Identifying these 10 genes is a watershed moment in schizophrenia research because each one of them provides a solid foundation for launching biological inquiry."
分别, PGC团队检查了76种常见的基因变异,755人患有精神分裂症，243人,649年不, finding 287 regions of the genome as having some involvement in schizophrenia risk, 自2019年的上次分析以来，增加了94个. With further analysis they identified 120 genes that potentially increase risk for schizophrenia. 其中一些基因也在SCHEMA研究中被发现.
Their findings also hint at an additional 22 genes that also likely influence schizophrenia risk, 在进一步研究后，这可能会被证明是重要的. SCHEMA研究的数据可在 模式.broadinstitute.org.
The authors suggest that the fact that both studies' findings converge similar groups of genes and similar biological mechanisms implies that genetic discoveries are beginning to home in on core aspects of schizophrenia biology and are close to broader insights into the mechanisms underlying schizophrenia progression.
"Our hope was that we would end up with some amount of overlap in the stories that the common and rare variant associations were telling us,尼尔教授说. "And we see overlap pointing to a relationship between synaptic biology and schizophrenia risk.
“实际, it will take yet more years to translate these results into treatments that will make a difference in the lives of people who are suffering with this devastating illness. 但有一条令人信服的前进道路是非常激励人的."