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

par Laaksonen, Reijo ;Thelen, Karin Maria;Päivä, Hannu;Matinheikki, Jussi;Vesalainen, Risto;Janatuinen, Tuula;Knuuti, Juhani;Rontu, Riikka;Von Bergmann, Klaus;Lütjohann, Dieter;Lehtimaki, Terho
Référence Atherosclerosis, 185, 1, page (206-209)
Publication Publié, 2006-03

Article révisé par les pairs

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Résumé :

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. © 2005 Elsevier Ireland Ltd. All rights reserved.