Polymorphisms
in the Lipoprotein Lipase and Hepatic Lipase
Genes and Plasma Lipid Values in the Czech
Population
J.A. HUBÁČEK1,2,
D.M. WATERWORTH2, J. PIŤHA1,
S.E. HUMPHRIES2, P.J. TALMUD2,
R. POLEDNE1
1Institute
for Clinical and Experimental Medicine,
Laboratory of Atherosclerosis Research, Prague,
Czech Republic and 2Cardiovascular
Genetic, Rayne Institute, Department of Medicine,
Royal Free and University College London Medical
School, London, England
Received September 13,
2000
Accepted January 4, 2001
Summary
We
have determined the genotypes of two common
polymorphisms in the lipoprotein lipase (S447X)
and hepatic lipase (-480C/T) genes in a cohort of
285 representative selected Czech probands (131
male and 154 female), examined in 1988 and
reinvestigated in 1996. The genotype
distributions of both polymorphisms were in
Hardy-Weinberg equilibrium and did not differ
between male and female subjects. The rare allele
frequency of the lipoprotein lipase polymorphism
did not differ significantly from the other
European populations. Compared to the German
populations, the frequency of the hepatic lipase
-480T allele was significantly higher in the
Czech group (20 % vs. 36 %, p<0.0001). There
were no significant associations between the
lipoprotein lipase gene variants and lipid
parameters measured either in 1988, or in 1996 or
with changes of lipid parameters over the 8-year
period. The carriers of the T-480 allele of the
hepatic lipase polymorphism were found to have
higher HDL cholesterol levels (p=0.02). However,
this difference was confined to female subjects
only. The male carriers of the -480T allele had
higher concentrations of total cholesterol
(p=0.03) as compared to CC-480 subjects. Both
associations were observed in 1996 only. In the
Slavic Czech population, a common polymorphism in
the hepatic lipase gene (-480C/T), but not in the
lipoprotein lipase gene (S447X), is a significant
determinant of plasma HDL cholesterol in females
and plasma total cholesterol in males and
indicates the importance of gender-associated
effects in the genetic determinations of plasma
lipids.
Key
words
Hepatic
lipase · Lipoprotein lipase · Lipids ·
Polymorphism
Reprint
requests
J.
A. Hubáček, IKEM, Laboratory of Atherosclerosis
Research, Vídeňská 1958/9, Prague 4 140 21,
Czech Republic. Fax: + 420/2/47 215 74. e-mail: jahb@medicon.cz
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