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8个与精神分裂症相关新基因发现
Ke Ji Ri Bao· 2025-08-19 01:22
Core Findings - A large-scale exome sequencing study conducted by Cardiff University identified 8 new risk genes associated with schizophrenia, providing important insights into the neurobiological mechanisms of the disease and potential pathways for future drug development [1] Genetic Analysis - The research analyzed genetic data from 28,898 patients, 103,041 healthy controls, and 3,444 affected families, focusing on rare protein-coding gene mutations unique to the patient population [1] - Significant associations were found with the genes STAG1 and ZNF136, while moderate associations were noted with SLC6A1, KLC1, PCLO, ZMYND11, BSCL2, and CGREF1 [1] Mechanisms of Schizophrenia - SLC6A1 and KLC1 were identified as the first genes linked to schizophrenia solely through missense mutations, indicating that disruptions in GABA neurotransmitter communication and abnormal DNA spatial organization may be critical pathogenic mechanisms [1] - The study also revealed genetic commonalities between schizophrenia and other neurodevelopmental disorders, suggesting that these genes are key pieces in understanding the complex genetic network of schizophrenia [1]