Association study of RELN polymorphisms with schizophrenia in Han Chinese population |
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Authors: | Li Wenqiang Song Xueqin Zhang Hongxing Yang Yongfeng Jiang Chengdi Xiao Bo Li Wei Yang Ge Zhao Jingyuan Guo Weiyun Lv Luxian |
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Affiliation: | a Department of Psychiatry, Henan Mental Hospital, The Second Affiliated Hospital of Xinxiang Medical University, Xinxiang, Chinab Department of Life Science and Technology, Xinxiang Medical University, Xinxiang, Chinac Henan Key Lab of Biological Psychiatry, Xinxiang Medical University, Xinxiang, Chinad Department of Psychiatry, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China |
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Abstract: | Schizophrenia (SZ) is a common and complex psychiatric disorder with a strong genetic component. Previous research suggests that mutations altering genes in neurodevelopmental pathways contribute to SZ. Reelin gene (RELN) maps to chromosome 7q22.1, the encoded protein plays a pivotal role in guiding neuronal migration, lamination and connection during embryonic brain development. Several reports had indicated that reduced RELN expression is associated with human mental illnesses such as SZ, mood disorders and autism. In this study, case-control association analyses were performed in the Han Chinese population to determine if the RELN gene is a susceptibility gene for SZ. Thirty-seven single nucleotide polymorphisms (SNPs) were genotyped in 528 paranoid SZ patients and 528 control subjects. A significant association was found between rs12705169 and SZ (p = 0.001). Moreover, the haplotypes constructed from five SNPs showed significant differences between cases and controls (p = 0.041). When subjects were divided by gender, rs12705169 remained significant difference only in females (OR = 0.24, 95%CI = 0.14-0.40 for CC and OR = 0.40, 95%CI = 0.27-0.58 for AC), both in the allele and genotype (p = 0.0001 for both). This study describes a positive association between RELN and SZ in the Han Chinese population, and provides genetic evidence to support the gender difference of SZ. |
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Keywords: | SZ, Schizophrenia RELN, Reelin gene SNP, single nucleotide polymorphism OR, odds ratio CI, confidence interval OMIM, Mendelian Inheritance in Man GWAS, genome-wide association studies DSM-IV, Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition IV MAF, minor allele frequency HWE, Hardy-Weinberg equilibrium LD, linkage disequilibrium HWD, Hardy-Weinberg disequilibrium |
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