Review

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

Katherine K Anagnostopoulou^1,2 , Genovefa D Kolovou¹ , Peggy M Kostakou¹ , Constantinos Mihas³ , Georgios Hatzigeorgiou¹ , Christina Marvaki⁴ , Dimitrios Degiannis² , Dimitri P Mikhailidis⁵ and Dennis V Cokkinos¹

¹  1st Cardiology Department, Onassis Cardiac Surgery Center Athens, Greece

²  Molecular Immunology Laboratory, Onassis Cardiac Surgery Center, Athens, Greece

³  Internal Medicine Department, General Hospital of Kimi, Kimi, Greece

⁴  Department of Nursing, Technical School of Education, Athens, Greece

⁵  Department of Clinical Biochemistry (Vascular Prevention Clinics), Royal Free Hospital campus, University College London, London, UK

author email corresponding author email

Lipids in Health and Disease 2009, 8:24doi:10.1186/1476-511X-8-24

Published:	26 June 2009

Abstract

Background

This study assessed the gender-specific influence of the cholesteryl ester transfer protein (TaqIB, I405V) and lipoprotein lipase (S447X) polymorphisms on the response to an oral fat tolerance test in heterozygotes for familial hypercholesterolaemia.

Methods

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).

Results

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.

Conclusion

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.