Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study

• Published in: The journal of clinical endocrinology and metabolism Vol. 106; no. 8; pp. e3098 - e3109
• Main Authors: Nicholson, Rebekah J, Poss, Annelise M, Maschek, J Alan, Cox, James E, Hopkins, Paul N, Hunt, Steven C, Playdon, Mary C, Holland, William L, Summers, Scott A
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 01.08.2021
• Subjects: Adult; Alleles; Amino acid substitution; Analysis; Animals; Cardiovascular disease; Cardiovascular diseases; Ceramide; Clinical s; Clustered Regularly Interspaced Short Palindromic Repeats; Coronary artery disease; Coronary heart disease; Coronary vessels; CRISPR; Dextrose; Disease Models, Animal; Enzymatic activity; Enzymes; Fatty liver; Female; Genetic aspects; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genomics; Glucose; Glucose tolerance; Heart diseases; Homeostasis; Humans; Liver; Male; Mass spectrometry; Mass spectroscopy; Medical research; Medicine, Experimental; Membrane lipids; Membrane Proteins - genetics; Metabolic disorders; Mice; Middle Aged; Mutation; Physiological aspects; Polymorphism; Polymorphism, Single Nucleotide; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Sphingolipids; Sphingosine N-Acyltransferase - genetics; Steatosis; Tumor Suppressor Proteins - genetics; Utah; Vein & artery diseases; Utah; United States > US; ceramide synthase 2; GWAS; sphingolipids; diabetes; lipid metabolism; hepatic steatosis

Abstract Context Genome-wide association studies have identified associations between a common single nucleotide polymorphism (SNP; rs267738) in CERS2, a gene that encodes a (dihydro)ceramide synthase that is involved in the biosynthesis of very-long-chain sphingolipids (eg, C20-C26) and indices of...