Genome‐wide association studies (GWAS) are used to identify genetic loci that are associated with a trait of interest in order to decipher underlying biological mechanisms. Metabolite measures in cerebrospinal fluid (CSF), the fluid that surrounds the brain, provides insight into brain function that may be relevant for neurobehavioral traits and neuropsychiatric disorders. We performed a GWAS of 1,000 metabolites in a sample of 600 human subjects, the largest set of CSF data used in a GWAS to date. We applied standard quality control of genetic data including missingness, minor allele frequency cut‐off, and population stratification. Phenotype data were checked for outliers, and non‐normal data were transformed using inverse rank normalization. A linear association, including age and sex as additional covariates, was performed using the PLINK whole genome association analysis toolset. Significant SNP associations were found in 45 metabolites. Analysis via functional mapping and annotation (FUMA) downstream GWAS analysis tool found that many of these SNPs have been associated with other traits by other GWAS. Linked traits include blood metabolite levels and brain related traits such as cognitive performance. Results show that a GWAS can be successfully performed with CSF metabolite data, and indicate a relationship between CSF and blood metabolite levels. Further steps include analysis of other CSF metabolites and the use of dosage genotype data for potentially more detailed results.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.