Article
A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression.
Molecular psychiatry - 1 Nov 2021
Li Yifan, Ma Changguo, Li Wenqiang, Yang Yongfeng, Li Xiaoyan, Liu Jiewei, Wang Junyang, Li Shiwu, Liu Yixing, Li Kaiqin, Li Jiao, Huang Di, Chen Rui, Lv Luxian, Li Ming, Luo Xiong-Jian
Abstract excerpt
Genome-wide association studies (GWASs) have revealed that genetic variants at the 22q13.2 risk locus were robustly associated with schizophrenia. However, the causal variants at this risk locus and their roles in schizophrenia remain elusive. Here we identify the risk missense variant rs1801311 (located in the 1st exon of NDUFA6 gene) as likely causal for schizophrenia at 22q13.2 by disrupting binding of YY1,...
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