Protocol for genome-wide association study of human blood metabolites

STAR Protoc. 2024 May 2;5(2):103052. doi: 10.1016/j.xpro.2024.103052. Online ahead of print.

Abstract

Genetic variations influence the levels of blood metabolites. We present analytical pipelines for assessing genetic influences on human blood metabolites. We describe steps for the normalization of metabolome data, genome-wide association studies, and the identification of metabolite quantitative trait loci (mQTLs). We then detail procedures for functional enrichment analysis of mQTLs. This protocol could be applicable to other quantitative traits, such as clinical measurements or proteome data. For complete details on the use and execution of this protocol, please refer to Iwasaki et al.1.

Keywords: Bioinformatics; Genetics; Metabolism.