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

Abstract
Transcriptional regulation of the cholesterol 7alpha-hydroxylase (CYP7AI) gene is of critical importance for bile acid and cholesterol metabolism. We evaluated the physiological significance of two common polymorphisms (-203C/A and -469T/C) in the promoter region of the CYP7AI gene. No evidence was found for physiological differences between either the -203C and -203A alleles or the -469T and -469C alleles in transient transfection studies using native 834bp promoter constructs. Moreover, no association was observed between the CYP7AI promoter polymorphisms and the hepatic cholesterol 7alpha-hydroxylase activity and parameters of bile acid synthesis rates, as analyzed in subjects with gallstone disease. In addition, no relationships were found between the promoter polymorphisms and plasma LDL cholesterol concentration in association studies conducted in three different groups of middle-aged Swedish men. Finally, near complete allelic association was found between the two promoter polymorphisms and the IVS6+363G/A polymorphism at the 3' end of the CYP7AI gene (|D'|=0.98), indicating strong linkage disequilibrium across the whole CYP7AI gene. It is concluded that common polymorphisms of the CYP7A1 gene do not contribute to variation in cholesterol 7alpha-hydroxylase activity, rates of bile acid synthesis and plasma LDL cholesterol concentration in humans.
AuthorsAnna Abrahamsson, Sergey Krapivner, Ulf Gustafsson, Olle Muhrbeck, Gösta Eggertsen, Inger Johansson, Irene Persson, Bo Angelin, Magnus Ingelman-Sundberg, Ingemar Björkhem, Curt Einarsson, Ferdinand M van't Hooft
JournalAtherosclerosis (Atherosclerosis) Vol. 182 Issue 1 Pg. 37-45 (Sep 2005) ISSN: 0021-9150 [Print] Ireland
PMID16115473 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Bile Acids and Salts
  • Cholestenones
  • Cholesterol, LDL
  • 7 alpha-hydroxy-4-cholesten-3-one
  • Cholesterol 7-alpha-Hydroxylase
Topics
  • Bile Acids and Salts (biosynthesis)
  • Carcinoma, Hepatocellular
  • Cell Line, Tumor
  • Cholestenones (blood)
  • Cholesterol 7-alpha-Hydroxylase (genetics, metabolism)
  • Cholesterol, LDL (blood)
  • Genetic Testing
  • Genetic Variation
  • Haplotypes
  • Humans
  • Liver Neoplasms
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Promoter Regions, Genetic (genetics)
  • Transcription, Genetic

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