Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei 114, Taiwan.
Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei 114, Taiwan.
Medicina (Kaunas). 2024 Aug 6;60(8):1271. doi: 10.3390/medicina60081271.
: Genomic studies have identified several SNP loci associated with schizophrenia in East Asian populations. Environmental factors, particularly urbanization, play a significant role in schizophrenia development. This study aimed to identify schizophrenia susceptibility loci and characterize their biological functions and molecular pathways in Taiwanese urban Han individuals. : Participants with schizophrenia were recruited from the Taiwan Precision Medicine Initiative at Tri-Service General Hospital. Genotype-phenotype association analysis was performed, with significant variants annotated and analyzed for functional relevance. : A total of 137 schizophrenia patients and 26,129 controls were enrolled. Ten significant variants ( < 1 × 10) and 15 expressed genes were identified, including rs1010840 ( and ), rs11083963 (), rs11619878 (LINC00355 and LINC01052), rs117010638 ( and MIR548AP), rs1170702 (LINC01680 and LINC01720), rs12028521 ( and ), rs12859097 (), rs1556812 (), rs78144262 (LINC00977), and rs9997349 (). These variants and associated genes are involved in immune response, blood pressure regulation, muscle function, and the cytoskeleton. : Identified variants and associated genes suggest a potential genetic predisposition to schizophrenia in the Taiwanese urban Han population, highlighting the importance of potential comorbidities, considering population-specific genetic and environmental interactions.
: 基因组研究已经确定了东亚人群中与精神分裂症相关的几个 SNP 位点。环境因素，特别是城市化，在精神分裂症的发展中起着重要作用。本研究旨在鉴定精神分裂症易感基因座，并描述其在台湾汉族城市人群中的生物学功能和分子途径。 : 从三军总医院的台湾精准医学倡议中招募了精神分裂症患者。进行了基因型-表型关联分析，对有意义的变体进行注释和功能相关性分析。 : 共纳入 137 例精神分裂症患者和 26129 例对照。鉴定出 10 个显著变异体(<1×10)和 15 个表达基因，包括 rs1010840()、rs11083963()、rs11619878(LINC00355 和 LINC01052)、rs117010638()、MIR548AP、rs1170702(LINC01680 和 LINC01720)、rs12028521()、rs12859097()、rs1556812()、rs78144262(LINC00977)和 rs9997349()。这些变异体和相关基因参与免疫反应、血压调节、肌肉功能和细胞骨架。 : 鉴定出的变异体和相关基因表明，台湾汉族城市人群存在精神分裂症的潜在遗传易感性，这凸显了考虑特定人群的遗传和环境相互作用时，潜在合并症的重要性。
