Identification of a functional FADS1 3′UTR variant associated with erythrocyte n-6 polyunsaturated fatty acids levels

•The rs174547 polymorphism is associated with n-6 polyunsaturated fatty acid levels in erythrocytes. •Among the 25 polymorphisms of the rs174547 haplotype block, rs174546 is functional. •The rs174546 minor allele triggers FADS1 gene downregulation. •The rs174546 minor allele creates an miR-149-5p binding site in the FADS1 3′UTR. Background Blood polyunsaturated fatty acid (PUFA) levels are determined by diet and by endogenous synthesis via Δ5-...