Common polymorphisms in the CYP7A1 gene do not contribute to variation in rates of bile acid synthesis and plasma LDL cholesterol concentration

摘要: Abstract Transcriptional regulation of the cholesterol 7α-hydroxylase (CYP7AI) gene is critical importance for bile acid and metabolism. We evaluated physiological significance two common polymorphisms (−203C/A −469T/C) in promoter region CYP7AI gene. No evidence was found differences between either −203C −203A alleles or −469T −469C transient transfection studies using native 834 bp constructs. Moreover, no association observed hepatic activity parameters synthesis rates, as analyzed subjects with gallstone disease. In addition, relationships were plasma LDL concentration conducted three different groups middle-aged Swedish men. Finally, near complete allelic IVS6 + 363G/A polymorphism at 3′ end (|D′| = 0.98), indicating strong linkage disequilibrium across whole It concluded that CYP7A1 do not contribute to variation activity, rates humans.