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Sex-associated effect of CETP and LPL polymorphisms on postprandial lipids in familial hypercholesterolaemia

DOI: 10.1186/1476-511x-8-24

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We selected and genotyped 80 men and postmenopausal women heterozygous for familial hypercholesterolaemia (main group) as well as 11 healthy control subjects. Patients were subgrouped based on their response to oral fat tolerance test. The oral fat tolerance test was defined as pathological when postprandial triglyceride concentration was higher than the highest triglyceride concentration observed in healthy subjects (220 mg/dl) at any time (2, 4, 6 or 8 h).In the pathological subgroup, men had significantly higher incremental area under the curve after oral fat tolerance test than postmenopausal women. Furthermore, multivariate analysis revealed a gender association of TaqIB and I405V influence on postprandial lipaemia in this subgroup.In conclusion, it seems that gender and TaqIB polymorphism of the cholesteryl ester transfer protein gene were both associated with the distribution of triglyceride values after oral fat tolerance test, only in subjects with a pathological response to oral fat tolerance test. Specifically, men carrying the B2 allele of the TaqIB polymorphism showed a higher postprandial triglyceride peak and a delayed return to basal values compared with women carrying B2. However, further investigations in larger populations are required to replicate and confirm these findings.The mechanisms that control the cholesteryl ester transfer protein (CETP) have attracted attention, since plasma CETP concentration is associated with increased risk for premature atherosclerosis [1]. The CETP concentration and activity in plasma is dependent on several factors such as environmental components including dietary cholesterol [2], alcohol [3], smoking and obesity [4], gender [5], and genetic influence (e.g. polymorphism of CETP gene) [6-8]. CETP plays a major role in the remodeling of lipoprotein particles by mediating the transfer of high density lipoprotein (HDL) cholesteryl esters. When the level of triglyceride (TG)-rich lipoproteins is normal, CETP transfers


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