Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen

Science. 2021 Dec 3;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 2.

Abstract

Increased blood levels of low-density lipoprotein cholesterol (LDL-C) and fibrinogen are independent risk factors for cardiovascular disease. We identified associations between an Amish-enriched missense variant (p.Asn352Ser) in a functional domain of beta-1,4-galactosyltransferase 1 (B4GALT1) and 13.9 milligrams per deciliter lower LDL-C (P = 4.1 × 10–19) and 29 milligrams per deciliter lower plasma fibrinogen (P = 1.3 × 10–5). B4GALT1 gene–based analysis in 544,955 subjects showed an association with decreased coronary artery disease (odds ratio = 0.64, P = 0.006). The mutant protein had 50% lower galactosyltransferase activity compared with the wild-type protein. N-linked glycan profiling of human serum found serine 352 allele to be associated with decreased galactosylation and sialylation of apolipoprotein B100, fibrinogen, immunoglobulin G, and transferrin. B4galt1 353Ser knock-in mice showed decreases in LDL-C and fibrinogen. Our findings suggest that targeted modulation of protein galactosylation may represent a therapeutic approach to decreasing cardiovascular disease.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cholesterol, LDL / blood*
  • Coronary Artery Disease / genetics
  • Coronary Artery Disease / prevention & control
  • Female
  • Fibrinogen / analysis*
  • Galactose / metabolism
  • Galactosyltransferases / genetics*
  • Galactosyltransferases / metabolism
  • Gene Knock-In Techniques
  • Gene Knockdown Techniques
  • Glycoproteins / blood
  • Glycosylation
  • Humans
  • Liver / enzymology
  • Male
  • Mice
  • Mutation, Missense*
  • N-Acetylneuraminic Acid / metabolism
  • Polysaccharides / blood
  • Whole Genome Sequencing

Substances

  • Cholesterol, LDL
  • Glycoproteins
  • Polysaccharides
  • Fibrinogen
  • Galactosyltransferases
  • beta-1,4-galactosyltransferase I
  • N-Acetylneuraminic Acid
  • Galactose