Volume 41 Issue 1
Jan.  2020
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Zhi-Hui Yang, Xin Cai, Na Qu, Li-Juan Zhao, Bao-Liang Zhong, Shu-Fang Zhang, Jing Chen, Bin Xia, Hong-Yan Jiang, Dan-Yang Zhou, Wei-Peng Liu, Hong Chang, Xiao Xiao, Yi Li, Ming Li. Identification of a functional 339 bp Alu insertion polymorphism in the schizophrenia-associated locus at 10q24.32. Zoological Research, 2020, 41(1): 84-89. doi: 10.24272/j.issn.2095-8137.2020.014
Citation: Zhi-Hui Yang, Xin Cai, Na Qu, Li-Juan Zhao, Bao-Liang Zhong, Shu-Fang Zhang, Jing Chen, Bin Xia, Hong-Yan Jiang, Dan-Yang Zhou, Wei-Peng Liu, Hong Chang, Xiao Xiao, Yi Li, Ming Li. Identification of a functional 339 bp Alu insertion polymorphism in the schizophrenia-associated locus at 10q24.32. Zoological Research, 2020, 41(1): 84-89. doi: 10.24272/j.issn.2095-8137.2020.014

Identification of a functional 339 bp Alu insertion polymorphism in the schizophrenia-associated locus at 10q24.32

doi: 10.24272/j.issn.2095-8137.2020.014
#Authors contributed equally to this work
Funds:  This work was supported by grants from Yunnan Applied Basic Research Projects (2018FB051 to X.X. and 2018FB136 to H. C.); Hubei Province Health and Family Planning Scientific Research Project (WJ2015Q033 to N. Q.); Population and Family Planning Commission of Wuhan (WX14B34 to N. Q.); Open Program of Henan Key Laboratory of Biological Psychiatry (ZDSYS2018001 to H. C.); and Program for Scientific Research of Yunnan Health and Family Planning Commission (2016NS025 to H.Y.J.)
More Information
  • Genome-wide association studies (GWAS) have identified multiple single nucleotide polymorphisms (SNPs) or small indels robustly associated with schizophrenia; however, the functional risk variations remain largely unknown. We investigated the 10q24.32 locus and discovered a 339 bp Alu insertion polymorphism (rs71389983) in complete linkage disequilibrium (LD) with the schizophrenia GWAS risk variant rs7914558. The presence of the Alu insertion at rs71389983 strongly repressed transcriptional activities in in vitro luciferase assays. This polymorphism may be a target for future mechanistic research. Our study also underlines the importance and necessity of considering previously underestimated Alu polymorphisms in future genetic studies of schizophrenia.
  • #Authors contributed equally to this work
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