Article
Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression.
Advanced science (Weinheim, Baden-Wurttemberg, Germany) - 1 Feb 2022
Li Yifan, Ma Changguo, Li Shiwu, Wang Junyang, Li Wenqiang, Yang Yongfeng, Li Xiaoyan, Liu Jiewei, Yang Jinfeng, Liu Yixing, Li Kaiqin, Li Jiao, Huang Di, Chen Rui, Lv Luxian, Xiao Xiao, Li Ming, Luo Xiong-Jian
Abstract excerpt
Genome-wide association studies have identified 3p21.1 as a robust risk locus for schizophrenia. However, the underlying molecular mechanisms remain elusive. Here a functional regulatory variant (rs2535629) is identified that disrupts CTCF binding at 3p21.1. It is confirmed that rs2535629 is also significantly associated with schizophrenia in Chinese population and the regulatory effect of rs2535629 is validated....
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