ArticlemedRxiv : the preprint server for health sciences2026
Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.
Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Metabolite genome-wide association studies have identified hundreds of variants, many of which play intermediate roles linking genotype and phenotype with downstream diseases. However, the majority of metabolite GWAS have been published in self-identified Non-Hispanic White (NHW) populations, greatly limiting inference to other populations. Here we report the results of a GWAS of 7,522 untargeted metabolite peaks in 2,183 participants of the Coronary Artery Risk Development in Young Adults (CARDIA) study (714 Black and 1,469 White individuals, mean age = 43.56, women = 56.1%). We performed untargeted metabolomic profiling on plasma samples from these individuals using ultra-high performance liquid chromatography-high resolution mass spectrometry. Using race/ethnicity-stratified and combined GWAS of 8,534,915 (Black stratum) and 5,886,255 (White stratum) common variants (minor allele frequency ≥ 0.05) from TOPMed Imputation Reference Panel r
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