Article
Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals.
European journal of human genetics : EJHG - 1 Nov 2004
Hofman M K, Groenendijk M, Verkuijlen P J J H, Jonkers I J A M, Mohrschladt M F, Smelt A H M, Princen H M G
Abstract excerpt
The rate-limiting enzyme in the conversion of cholesterol into bile acids is cholesterol 7alpha-hydroxylase (CYP7A1). An A to C substitution 278 bp upstream in the promoter of the CYP7A1 gene was found to be associated with variations in serum lipid levels in normolipidaemic populations. In the present study, we investigated the involvement of this polymorphism in four different lipid disorders:...
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