Sasayama Daimei, Hattori Kotaro, Kunugi Hiroshi
Department of Mental Disorder Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Department of Psychiatry, Shinshu University School of Medicine, Nagano, Japan.
Methods Mol Biol. 2019;2044:365-376. doi: 10.1007/978-1-4939-9706-0_24.
Recent advance in high-throughput proteome analysis has enabled genome-wide and proteome-wide analyses of associations between single nucleotide polymorphisms and protein expression levels. Protein quantitative trait locus (pQTL) studies using cerebrospinal fluid (CSF) and DNA samples may provide valuable insights into the genetic basis and molecular mechanisms regulating protein expression in the central nervous system. In this chapter, we describe a step-by-step procedures of CSF collection and pQTL analysis, by using PLINK and R software.
高通量蛋白质组分析的最新进展使得能够对单核苷酸多态性与蛋白质表达水平之间的关联进行全基因组和全蛋白质组分析。使用脑脊液(CSF)和DNA样本进行的蛋白质定量性状基因座(pQTL)研究可能会为调节中枢神经系统中蛋白质表达的遗传基础和分子机制提供有价值的见解。在本章中,我们描述了使用PLINK和R软件进行脑脊液收集和pQTL分析的详细步骤。