Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man.
Atherosclerosis
; 185(1): 206-9, 2006 Mar.
Article
in En
| MEDLINE
| ID: mdl-16005884
ABSTRACT
Sterol regulatory element binding proteins-1 and -2 (SREBPs) are transcription factors controlling lipid homeostasis in human cells. The G-allele carriers of the SREBF-1 gene C-G polymorphism in exon 18c and coding for glycine at the protein level (G952G) have shown to associate more frequently with obesity and type 2 diabetes than the C-allele carriers. However, the C-allele has suggested to be linked to dyslipidemia. Thus, our aim was to study effect of the SREBF-1 gene polymorphism (G952G) on sterol metabolism in man. Ninety-five subjects with moderate hypercholesterolemia participated in this study and 14 homozygous CC carriers of the SREBF-1 (G952G) gene were found. Plasma lathosterol concentration and lathosterol-to-cholesterol ratio, markers of endogenous cholesterol synthesis, were significantly higher in CC homozygous subject compared to others. Similarly muscle cholesterol (p=0.045) and lathosterol (p=0.054) concentrations were elevated in the CC homozygotes supporting the view that endogenous cholesterol synthesis rate is SREBF-1 genotype-dependent.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Polymorphism, Genetic
/
DNA
/
Cholesterol
/
Sterol Regulatory Element Binding Protein 1
/
Hypercholesterolemia
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Atherosclerosis
Year:
2006
Document type:
Article
Affiliation country:
Finland