Article

Metabolomics Ex/GWAS in the Amish reveals novel insights into cardiometabolic disease pathways

2025-08-06

Abstract excerpt

<h4>ABSTRACT</h4> We conducted an exome and genome-wide association study (Ex/GWAS) of 1,015 metabolites in serum samples from 5,981 Amish adults. We identified 149 functional or likely functional genetic variants, based on CADD scores significantly associated ( P < 5.8 x 10 -8 ) with 519 metabolite levels, 69 of which were >10-fold enriched in the Amish versus Europeans in gnomAD. We discovered novel associati...

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Literature Corpus work: a8b2b6f0-ef69-5937-8bd6-abaa64cb7946
DOI: 10.1101/2025.08.04.667775

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