{"doi":"10.1101/2021.02.04.922880","title":"Brain transcriptional regulatory architecture and schizophrenia etiology converge between East Asian and European ancestral populations","abstract":"Abstract Understanding the genetic architecture of gene expression and splicing in human brain is critical to unlocking the mechanisms of complex neuropsychiatric disorders like schizophrenia (SCZ). Large-scale brain transcriptomic studies are based primarily on populations of European (EUR) ancestry. The uniformity of mono-racial resources may limit important insights into the disease etiology. Here, we characterized brain transcriptional regulatory architecture of East Asians (EAS; n=151), identifying 3,278 expression quantitative trait loci (eQTL) and 4,726 spliceQTL (sQTL). Comparing these to PsychENCODE/BrainGVEX confirmed our hypothesis that the transcriptional regulatory architecture in EAS and EUR brains align. Furthermore, distinctive allelic frequency and linkage disequilibrium impede QTL translation and gene-expression prediction accuracy. Integration of eQTL/sQTL with genome-wide association studies reveals common and novel SCZ risk genes. Pathway-based analyses showing shared SCZ biology point to synaptic and GTPase dysfunction as a prospective pathogenesis. This study elucidates the transcriptional landscape of the EAS brain and emphasizes an essential convergence between EAS and EUR populations.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2021,"id":218353,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9252,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":816145,"name":"Yu Chen","orcid":"0000-0003-3900-3180","position":1,"is_corresponding":false},{"id":816146,"name":"Feiran Wang","orcid":"0000-0002-1790-7130","position":2,"is_corresponding":false},{"id":415930,"name":"Yi Jiang","orcid":"0000-0002-1196-0280","position":3,"is_corresponding":false},{"id":816578,"name":"Fangyuan Duan","orcid":null,"position":4,"is_corresponding":false},{"id":415932,"name":"Yan Xia","orcid":"0000-0001-6432-9911","position":5,"is_corresponding":false},{"id":816579,"name":"Zhilin Ning","orcid":null,"position":6,"is_corresponding":false},{"id":816147,"name":"Miao Li","orcid":"0000-0002-8112-7331","position":7,"is_corresponding":false},{"id":816148,"name":"Wenying Qiu","orcid":"0000-0003-4906-8746","position":8,"is_corresponding":false},{"id":816149,"name":"Chao Ma","orcid":"0000-0001-9023-2427","position":9,"is_corresponding":false},{"id":816150,"name":"Xiao‐Xin Yan","orcid":"0000-0001-6654-982X","position":10,"is_corresponding":false},{"id":816151,"name":"Ai‐Min Bao","orcid":"0000-0002-8755-1950","position":11,"is_corresponding":false},{"id":816152,"name":"Jiapei Dai","orcid":"0000-0002-1474-5754","position":12,"is_corresponding":false},{"id":571643,"name":"Richard F. Kopp","orcid":"0000-0001-8190-1748","position":13,"is_corresponding":false},{"id":816153,"name":"Liz Kuney","orcid":"0000-0001-9324-5434","position":14,"is_corresponding":false},{"id":557001,"name":"Jufang Huang","orcid":"0000-0002-9161-1055","position":15,"is_corresponding":false},{"id":557977,"name":"Shuhua Xu","orcid":"0000-0002-1975-1002","position":16,"is_corresponding":false},{"id":297203,"name":"Beisha Tang","orcid":"0000-0003-2120-1576","position":17,"is_corresponding":false},{"id":21434,"name":"Chunyu Liu","orcid":"0000-0002-5986-4415","position":18,"is_corresponding":false},{"id":318157,"name":"Chao Chen","orcid":"0000-0002-5114-2282","position":19,"is_corresponding":false},{"id":816144,"name":"Sihan Liu","orcid":"0009-0005-2358-877X","position":0,"is_corresponding":true}],"reference_count":98,"raw_metadata":null,"created_at":"2026-07-18T23:53:29.626149Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}