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

ABSTRACT: 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.

SUBMITTER: Yang ZH

PROVIDER: S-EPMC6956716 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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

Yang Zhi-Hui ZH Cai Xin X Qu Na N Zhao Li-Juan LJ Zhong Bao-Liang BL Zhang Shu-Fang SF Chen Jing J Xia Bin B Jiang Hong-Yan HY Zhou Dan-Yang DY Liu Wei-Peng WP Chang Hong H Xiao Xiao X Li Yi Y Li Ming M

Zoological research 20200101 1

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 trans ...[more]

PMID: 31840948

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