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论文题目: Common variants of the PINK1 and PARL genes do not confer genetic susceptibility to schizophrenia in Han Chinese
作者: Xiao Li; Wen Zhang; Chen Zhang; Zhenghui Yi; Deng-Feng Zhang; Wei Gong; Jinsong Tang; Dong Wang; Weihong Lu; Xiaogang Chen; Yiru Fang; Yong-Gang Yao*
联系作者: yaoyg@mail.kiz.ac.cn
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发表年度: 2015
卷: 290
期: 2
页码: 585-592
摘要: Schizophrenia is a prevalent psychiatric disorder with a complex etiology. Mitochondrial dysfunction has been frequently reported in schizophrenia. Phosphatase and tension homologue-induced kinase 1 (PINK1) and presenilin-associated rhomboid-like protease (PARL) are mitochondrial proteins, and genetic variants of these two genes may confer genetic susceptibility to schizophrenia by influencing mitochondrial function. In this study, we conducted a two-stage genetic association study to test this hypothesis. We genotyped 4 PINK1 and 5 PARL genetic variants and evaluated the potential association of the 9 SNPs with schizophrenia in two independent case-control cohorts of 2510 Han Chinese individuals. No positive association of common genetic variants of the PINK1 and PARL genes with schizophrenia was identified in our samples after Bonferroni correction. Re-analysis of the newly updated Psychiatric Genetics Consortium (PGC) data sets confirmed our negative result. Intriguingly, one PINK1 SNP (rs10916832), which showed a marginally significant association in only Hunan samples (P = 0.032), is associated with the expression of a schizophrenia susceptible gene KIF17 according to the expression quantitative trait locus (eQTL) analysis. Our study indicated that common genetic variants of the PINK1 and PARL genes are unlikely to be involved in schizophrenia. Further studies are essential to characterize the role of the PINK1 and PARL genes in schizophrenia.
刊物名称: Molecular Genetics and Genomics
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影响因子: 2.728 (2014)
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