Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.

The red blood cell (RBC)-Omics study, part of the larger NHLBI-funded Recipient Epidemiology and Donor Evaluation Study (REDS-III), aims to understand the genetic contribution to blood donor RBC characteristics. Previous work identified donor demographic, behavioral, genetic, and metabolic underpinnings to blood donation, storage, and (to a lesser extent) transfusion outcomes, but none have yet linked the genetic and metabolic bodies of work. We performed a genome-wide association (GWA) analysis using RBC-Omics study participants with generated untargeted metabolomics data to identify metabolite quantitative trait loci in RBCs. We performed GWA analyses of 382 metabolites in 243 individuals imputed using the 1000 Genomes Project phase 3 all-ancestry reference panel. Analyses were conducted using ProbABEL and adjusted for sex, age, donation center, number of whole blood donations in the past 2 years, and first 10 principal components of ancestry. Our results identified 423 independent genetic loci associated with 132 metabolites (p < 5×10

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Déclaration de conflit d'intérêts

Conflict of interest Though unrelated to the contents of this manuscripts, the authors declare that A. D. is a founder of Omix Technologies Inc and Altis Biosciences LLC. A. D. is SAB members for Hemanext Inc. and FORMA Therapeutics Inc. A. D. is a consultant for Rubius Therapeutics. J. C. Z. is a consultant for Rubius Therapeutics and a founder of Svalinn Therapeutics. All other authors have no conflicts of interests to disclose.