Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China; University of Chinese Academy of Sciences, Beijing, China.
Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China.
Neurosci Lett. 2014 Apr 30;566:210-5. doi: 10.1016/j.neulet.2014.03.006. Epub 2014 Mar 12.
Mitochondrial dysfunction was widely reported in schizophrenia patients in recent studies. Leucine-rich repeat kinase 2 (LRRK2) is a mitochondrial protein, and mutations in the LRRK2 gene can induce mitochondrial dysfunction. LRRK2 mutations have been reported to be the most frequent genetic cause of Parkinson's disease (PD). We were interested in whether LRRK2 variants also play a role in schizophrenia. In this study, we genotyped 12 genetic variants (including 4 tag SNPs and 8 disease-associated variants) in the LRRK2 gene in a total of 2449 samples composed of two independent Han Chinese schizophrenia case-control cohorts (486 schizophrenia patients and 480 healthy controls from Hunan Province; 624 schizophrenia patients and 859 healthy controls from Shanghai). We compared the genotype, allele and haplotype frequencies of those SNPs between cases and controls. Statistical analyses revealed no association between LRRK2 variants/haplotypes and schizophrenia in these two schizophrenia case-control cohorts and the combined samples. Our results indicated that the LRRK2 variants are unlikely to be actively involved in schizophrenia in Han Chinese.
线粒体功能障碍在最近的研究中在精神分裂症患者中被广泛报道。富含亮氨酸重复激酶 2（LRRK2）是一种线粒体蛋白，LRRK2 基因的突变可诱导线粒体功能障碍。已经报道 LRRK2 突变是帕金森病（PD）最常见的遗传原因。我们对 LRRK2 变体是否也在精神分裂症中发挥作用感兴趣。在这项研究中，我们对 LRRK2 基因中的 12 个遗传变异（包括 4 个标记 SNP 和 8 个与疾病相关的变异）进行了基因分型，总共有 2449 个样本，包括两个独立的汉族精神分裂症病例对照队列（来自湖南省的 486 名精神分裂症患者和 480 名健康对照者；来自上海的 624 名精神分裂症患者和 859 名健康对照者）。我们比较了这些 SNP 在病例和对照组之间的基因型、等位基因和单倍型频率。统计分析显示，在这两个精神分裂症病例对照队列和合并样本中，LRRK2 变异体/单倍型与精神分裂症之间没有关联。我们的结果表明，LRRK2 变异体不太可能积极参与汉族人群的精神分裂症。
