Genetic Architecture of Circulating Very-Long-Chain (C24:0 and C22:0) Ceramide Concentrations.

Sharon CresciRuibo ZhangQiong Yang Meredith S Duncan Vanessa Xanthakis Xuntian Jiang Ramachandran S Vasan Jean E Schaffer Linda R Peterson

Published in: Journal of lipid and atherosclerosis (2020)

SNPs near the SPTLC3 gene, which encodes serine palmitoyltransferase long chain base subunit 3 (SPTLC3; part of the enzyme that catalyzes the rate-limiting step of de novo sphingolipid synthesis) were associated with plasma C22:0 and C24:0 ceramide concentrations. These results are biologically plausible and suggest that SPTLC3 may be a potential therapeutic target for C24:0 and C22:0 ceramide modulation.

Keyphrases

genome wide
copy number
protein kinase
dna methylation
gene expression
human health
risk assessment
transcription factor