Affiliated Hospital of Qingdao University and Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
Nat Genet. 2017 Nov;49(11):1576-1583. doi: 10.1038/ng.3973. Epub 2017 Oct 9.
We conducted a genome-wide association study (GWAS) with replication in 36,180 Chinese individuals and performed further transancestry meta-analyses with data from the Psychiatry Genomics Consortium (PGC2). Approximately 95% of the genome-wide significant (GWS) index alleles (or their proxies) from the PGC2 study were overrepresented in Chinese schizophrenia cases, including ∼50% that achieved nominal significance and ∼75% that continued to be GWS in the transancestry analysis. The Chinese-only analysis identified seven GWS loci; three of these also were GWS in the transancestry analyses, which identified 109 GWS loci, thus yielding a total of 113 GWS loci (30 novel) in at least one of these analyses. We observed improvements in the fine-mapping resolution at many susceptibility loci. Our results provide several lines of evidence supporting candidate genes at many loci and highlight some pathways for further research. Together, our findings provide novel insight into the genetic architecture and biological etiology of schizophrenia.
我们在中国 36180 个人中进行了一项全基因组关联研究（GWAS），并与精神病学基因组学联盟（PGC2）的数据进行了进一步的跨血统荟萃分析。PGC2 研究中约 95%的全基因组显著（GWS）指数等位基因（或其代表）在汉族精神分裂症病例中过度表达，包括约 50%达到名义显著性，约 75%在跨血统分析中继续为 GWS。仅在中国进行的分析确定了七个 GWS 位点；其中三个在跨血统分析中也是 GWS，确定了 109 个 GWS 位点，因此在至少一项分析中总共确定了 113 个 GWS 位点（30 个新的）。我们观察到许多易感基因座的精细映射分辨率有所提高。我们的研究结果提供了多条证据，支持许多基因座的候选基因，并突出了一些进一步研究的途径。总之，我们的发现为精神分裂症的遗传结构和生物学病因提供了新的见解。
