Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study.
Rebekah J NicholsonAnnelise M PossJ Alan MaschekJames E CoxPaul N HopkinsSteven C HuntMary C PlaydonWilliam L HollandScott A SummersPublished in: The Journal of clinical endocrinology and metabolism (2021)
The rs267738 SNP leads to a partial loss-of-function of CERS2, which worsened metabolic parameters in knock-in mice. However, rs267738 was insufficient to effect changes in serum sphingolipid profiles in subjects from the Utah Coronary Artery Disease Study.