Article
Functional variant rs2270363 on 16p13.3 confers schizophrenia risk by regulating NMRAL1.
Brain : a journal of neurology - 29 Jul 2022
Wang Junyang, Li Shiwu, Li Xiaoyan, Liu Jiewei, Yang Jinfeng, Li Yifan, Li Wenqiang, Yang Yongfeng, Li Jiao, Chen Rui, Li Kaiqin, Huang Di, Liu Yixing, Lv Luxian, Li Ming, Xiao Xiao, Luo Xiong Jian
Abstract excerpt
Recent genome-wide association studies have reported multiple schizophrenia risk loci, yet the functional variants and their roles in schizophrenia remain to be characterized. Here we identify a functional single nucleotide polymorphism (rs2270363: G>A) at the schizophrenia risk locus 16p13.3. rs2270363 lies in the E-box element of the promoter of NMRAL1 and disrupts binding of the basic helix-loop-helix leucine...
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