Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals.
作者： M K Hofman , M Groenendijk , P J J H Verkuijlen , I J A M Jonkers , M F Mohrschladt
关键词: Familial hypercholesterolemia 、 Polymorphism (computer science) 、 Endocrinology 、 Internal medicine 、 Biochemistry 、 Low-density lipoprotein 、 Biology 、 Very low-density lipoprotein 、 Hypertriglyceridemia 、 Cholesterol 7 alpha-hydroxylase 、 Triglyceride 、 Cholesterol
摘要: The rate-limiting enzyme in the conversion of cholesterol into bile acids is 7alpha-hydroxylase (CYP7A1). An A to C substitution 278 bp upstream promoter CYP7A1 gene was found be associated with variations serum lipid levels normolipidaemic populations. In present study, we investigated involvement this polymorphism four different disorders: hypertriglyceridaemia (HTG), combined hyperlipidaemia (CH), familial dysbetalipoproteinaemia (FD) and hypercholesterolaemia (FH). a male population, homozygous for apoE3 isoform, an association between AA genotype higher triglycerides (AA: + 34%, P=0.036). HTG patients, significantly concentrations total (+ 23%, P=0.005). There tendency towards increased 39%, P=0.06), VLDL-triglycerides 48%, P=0.053) VLDL-cholesterol 35%, P=0.059). No significant associations were patients CH, FD FH. Our results show that A-278C has effect on triglyceride males hypertriglyceridaemia. © 2004 Nature Publishing Group All rights reserved. Chemicals / CAS: 7alpha monooxygenase, 9037-53-0; cholesterol, 57-88-5; lipid, 66455-18-3; Cholesterol 7-alpha-Hydroxylase, EC 1.14.13.17; Triglycerides
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