Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man

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...

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Veröffentlicht in:Atherosclerosis 2006-03, Vol.185 (1), p.206-209
Hauptverfasser: Laaksonen, Reijo, Thelen, Karin M, Päivä, Hannu, Matinheikki, Jussi, Vesalainen, Risto, Janatuinen, Tuula, Knuuti, Juhani, Rontu, Riikka, Bergmann, Klaus von, Lütjohann, Dieter, Lehtimäki, Terho
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Sprache:eng
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Zusammenfassung: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.
ISSN:0021-9150
1879-1484
DOI:10.1016/j.atherosclerosis.2005.06.007