A novel mutation in USF1 gene is associated with familial combined hyperlipidemia.

Eskandar TaghizadehFarzaneh MirzaeiNazanin JalilianMajid Ghayour MobarhanGordon A FernsAlireza Pasdar

Published in: IUBMB life (2019)

We speculate that this mutation [Arg196Trp] in the USF1 gene might be associated with FCHL and early-onset coronary heart disease in this family. However, the substantial mechanism requires further investigation. These findings indicate that USF1 plays an important role in the biological pathways associated with lipid metabolism.

Keyphrases

early onset
late onset
copy number
genome wide
genome wide identification
high fat diet
dna methylation
gene expression
skeletal muscle
genome wide analysis
insulin resistance