Abstract
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: hypertriglyceridaemia (HTG), combined hyperlipidaemia (CH), familial dysbetalipoproteinaemia (FD) and familial hypercholesterolaemia (FH). In a normolipidaemic male population, homozygous for the apoE3 isoform, an association was found between the AA genotype and higher levels of serum triglycerides (AA: +34%, P = 0.036). In HTG patients, the AA genotype was associated with significantly higher concentrations of total cholesterol (+23%, P = 0.005). There was a tendency towards increased levels of serum triglycerides (+39%, P = 0.06), VLDL-triglycerides (+48%, P = 0.053) and VLDL-cholesterol (+35%, P = 0.059). No significant associations were found between serum lipid levels and the CYP7A1 polymorphism in patients with CH, FD and FH. Our results show that the A-278C polymorphism in the CYP7A1 gene has an effect on triglyceride levels in ...Continue Reading
References
Jun 1, 1976·Metabolism: Clinical and Experimental·J J AlbersJ J Hoover
Mar 10, 1992·Biochemistry·D T MolowaC P Tan
Mar 1, 1991·Journal of Internal Medicine·M CarrellaK Einarsson
Jan 1, 1989·Journal of Inherited Metabolic Disease·C R Scriver
Nov 1, 1988·Human Genetics·M SmitL Havekes
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Apr 1, 1987·Gut·K E McCollG P Crean
Dec 1, 1974·The Journal of Clinical Investigation·K EinarssonM Kallner
May 1, 1982·Metabolism: Clinical and Experimental·U BeilS M Grundy
Sep 1, 1981·Analytical Biochemistry·M RosseneuF Belpaire
Apr 22, 1993·The New England Journal of Medicine·D A HellerG E McClearn
Oct 1, 1995·European Journal of Clinical Investigation·A Asplund-Carlson
Jan 1, 1996·Genetic Epidemiology·D I BoomsmaR R Frants
Sep 1, 1996·Arteriosclerosis, Thrombosis, and Vascular Biology·M F HauH M Princen
Mar 15, 1997·The Journal of Clinical Investigation·D MachlederA J Lusis
Apr 29, 1998·The Journal of Clinical Investigation·J WangJ C Cohen
Apr 1, 1998·Proceedings of the Society for Experimental Biology and Medicine·A M DavisH J Mersmann
Sep 26, 2000·The Journal of Biological Chemistry·J J RepaS D Turley
Mar 21, 2001·Atherosclerosis·R A HegeleC M Anderson
Mar 8, 2002·American Journal of Epidemiology·June E EichnerBerrit C Stroehla
Dec 4, 2002·European Journal of Human Genetics : EJHG·Nadia HaddySophia Visvikis
Jan 20, 2004·American Journal of Cardiovascular Drugs : Drugs, Devices, and Other Interventions·I J JonkersA van der Laarse
Citations
May 4, 2006·Molecular Diagnosis & Therapy·Jaroslav A Hubacek, Dagmar Bobkova
Feb 25, 2011·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Lingyu FuBo Zhou
Mar 1, 2008·Genetic Testing·Zygmunt JuzyszynMarek Droździk
Oct 28, 2008·Expert Opinion on Drug Metabolism & Toxicology·Irina A Pikuleva
Dec 7, 2010·Journal of Clinical Pharmacy and Therapeutics·K-K WeiX-J Hu
Sep 10, 2011·Basic & Clinical Pharmacology & Toxicology·Xiaoqiang XiangMikko Niemi
Nov 26, 2009·Atherosclerosis·Yingchang LuMichael Müller
May 19, 2009·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·A L V BarcelosC M D Silva
Oct 24, 2017·International Journal of Immunogenetics·M QrafliK Sadki
Mar 13, 2018·European Heart Journal·Faiza QayyumAnne Tybjærg-Hansen
Jun 10, 2006·Arteriosclerosis, Thrombosis, and Vascular Biology·Kathy L E KlosJames E Hixson
Jul 22, 2015·Nature Communications·Charles Robb FlynnNaji N Abumrad
Oct 21, 2009·Chemistry & Biodiversity·Stefanie D Krämer, Bernard Testa
Feb 15, 2005·Clinical Science·Maaike K HofmanJ Wouter Jukema
Feb 6, 2019·Drug Metabolism Reviews·Slobodan P Rendic, F Peter Guengerich
Jul 29, 2006·Pharmacology & Therapeutics·Irina A Pikuleva
Aug 12, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·A H M Smelt