精神分裂症 z-bo 2020-09-22 490

　　The international academic authoritative journal Nature Publishing Group, a well-known journal of psychiatry, "Molecular Psychiatry", published online research papers by the research team of Chief Physician Ma Hong and Professor Yu Xin of the Sixth Hospital of Peking University Medical Department and 15 institutions at home and abroad. The study conducted a genetic study of schizophrenia based on the community mental health service network. The study is entitled "Common 17q25 variants and their gene-gene interactions increase the risk of schizophrenia and regulate gene expression in the human brain."

　　This research started in 2012. It first used independent case-control samples to independently verify the main results of two published genome-wide association studies of schizophrenia in Chinese Han population, and found two common single nucleotide polymorphisms. There is a significant interaction between sex sites and can increase the risk of schizophrenia. These two sites are located in the intron of the tubulin folding cofactor D gene (TBCD) and the 5'untranslated region of the second exon of the zinc finger protein 750 gene (ZNF750). Both are located on 17q25. The chromosome The region is one of the hotspots in the study of schizophrenia genetics. Subsequently, the research team used genotype-tissue expression data to explore the relationship between different genotype combinations of these two loci and gene expression in 13 regions of human brain tissue, and found the expression levels of TEAD3, SH3TC2, KCNK9, and PPDPF in the cortex, and The expression levels of EFNA1, RNU4ATAC and NUPL2 in the cerebellum are regulated by the interaction between the two sites.

　　This study suggests for the first time that two genes, TBCD and ZNF750, increase the susceptibility to schizophrenia, and for the first time that these two genes are related to the level of gene transcription in human brain tissue, which has improved the understanding of the etiology of schizophrenia.