Gene polymorphisms affecting HDL-cholesterol
levels in the normolipidemic population
, Marilena Hatzivassiliou
, Eleni Bairaktari
, Marios Cariolou
, Moses Elisaf
Department of Internal medicine, Medical School, University of Ioannina,
GR 451 10 Ioannina, Greece
Molecular Genetics Department, B-DNA Identiﬁcation Laboratory,
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Department of Biological Chemistry, Medical School, University of Ioannina, Ioannina, Greece
Department of Biochemistry, University of Ioannina, Ioannina, Greece
Received 23 March 2004; received in revised form 27 May 2004; accepted 16 September 2004
Apolipoprotein A IV;
Summary Background and aim: HDL-cholesterol (HDL-C) is inversely related to
the risk of ischemic heart disease. Many genes are reported to affect HDL-C serum
levels in both hyperlipidemic and normolipidemic populations, though the data are
controversial. We examined the effect of common gene polymorphisms known to
interfere with HDL-C metabolism (apolipoprotein E, cholesterol ester transfer
protein and apolipoprotein A-IV gene polymorphisms) on HDL-C plasma levels in
Methods and results: The study population consisted of 200 normolipidemic
individuals visiting our clinic for a routine check-up. None of the above gene
polymorphisms affected HDL-C levels in our population. However, participants
carrying the allele E4 of the apolipoprotein (apo) E gene, the allele B1 of the TaqIB
polymorphisms in the cholesterol ester transfer protein (CETP) gene and the allele
T of the apoA-IV gene (A to T polymorphism at site 347) (nZ28) had statistically
signiﬁcantly lower HDL-C levels compared to those not carrying the above allele
combination (0.99G0.33 vs 1.28G0.35 mmol/L, pZ0.04).
Conclusion: In this study, we describe a subgroup of normolipidemic individuals
with low HDL-C levels due to genetic variability, and we discuss the underlying
possible mechanisms involved.
ª 2005 Elsevier Ltd. All rights reserved.
* Corresponding author. Tel.: C30 2651097509; fax: C30 2651097016.
E-mail address: email@example.com (M. Elisaf).
0939-4753/$ - see front matter ª 2005 Elsevier Ltd. All rights reserved.
Nutrition, Metabolism & Cardiovascular Diseases (2005) 15, 219e224