Staff Publications

Staff Publications

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    'Staff publications' is the digital repository of Wageningen University & Research

    'Staff publications' contains references to publications authored by Wageningen University staff from 1976 onward.

    Publications authored by the staff of the Research Institutes are available from 1995 onwards.

    Full text documents are added when available. The database is updated daily and currently holds about 240,000 items, of which 72,000 in open access.

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Record number 370334
Title Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals
Author(s) 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.
Source European Journal of Human Genetics 12 (2004)11. - ISSN 1018-4813 - p. 935 - 941.
DOI https://doi.org/10.1038/sj.ejhg.5201236
Department(s) Chair Nutrition and Disease
VLAG
Publication type Refereed Article in a scientific journal
Publication year 2004
Keyword(s) apolipoprotein-e polymorphism - bile-acid kinetics - density-lipoprotein - 7-alpha-hydroxylase gene - cyp7 gene - disease - mice - hyperlipoproteinemia - quantitation - association
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 normolipidaemic males and on cholesterol levels in patients with hypertriglyceridaemia.
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