Trait Loci Mapping and CSF Proteome
Open accessAbstract
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.
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Only a few genetic studies of the CSF proteome have been performed to date on larger sets of proteins.
“only a few such studies have been performed to date on larger sets of proteins (Kunkle et al, 2019; Sasayama et al, 2019; Yang et al, 2021)”
From The genetic regulation of protein expression in cerebrospinal fluid (2023) · cites this paper as Sasayama et al, 2019
Cites
Variation and genetic control of protein abundance in humans
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A meta-analysis of gene expression quantitative trait loci in brain
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The genetic regulation of protein expression in cerebrospinal fluid
Hansson, O., Kumar, A., Janelidze, S., Stomrud, E., Insel, P. S., Blennow, K., Zetterberg, H., Fauman, E., Hedman, Å. K., Nagle, M. W., et al. (2023) · EMBO Molecular Medicine · doi:10.15252/emmm.202216359 · Cited by 56 · see citing works
- Authors
- Sasayama, D., Hattori, K., & Kunugi, H.
- Affiliations
- Shinshu University (JP)
- National Center of Neurology and Psychiatry (JP)
- Corresponding author
- Sasayama, Daimei
- Venue
- Methods in Molecular Biology
- Publisher
- Springer New York
- Published
- 2019
- Volume
- 2044
- Pages
- 365-376
- ISSN
- 1064-3745 (ISSN-L)
- 1940-6029
- OpenAlex
- W2969746285
- Cited by
- 1
- References
- 3
- Citations by year
- 2022: 1
- FWCI
- 0.62
- Type
- book chapter
- Language
- en
- Open access
- Licence
- cc-by-nc-nd
- www.springer.com/tdm (tdm)
- Locations
- Methods in molecular biology (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion, cc-by-nc-nd)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- protein quantitative trait loci, cerebrospinal fluid proteome, single nucleotide polymorphisms, protein expression regulation, central nervous system, genetic association, PLINK
- MeSH terms
- Cerebrospinal Fluid Proteins, Humans, Software, Computational Biology, Proteome, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Proteomics, Workflow
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