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
Maaike K HofmanHans M G Princen

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

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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
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
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
Jul 29, 2006·Pharmacology & Therapeutics·Irina A Pikuleva
Aug 12, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·A H M Smelt

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