Ja. Hubacek et al., Polymorphisms in the lipoprotein lipase and hepatic lipase genes and plasma lipid values in the Czech population, PHYSL RES, 50(4), 2001, pp. 345-351
We have determined the genotypes of two common polymorphisms in the lipopro
tein lipase (S447X) and hepatic lipase (-480C/T) genes in a cohort of 285 r
epresentative selected Czech probands (131 male and 154 female), examined i
n 1988 and reinvestigated in 1996. The genotype distributions of both polym
orphisms were in Hardy-Weinberg equilibrium and did not differ between male
and female subjects. The rare allele frequency of the lipoprotein lipase p
olymorphism did not differ significantly from the other European population
s. 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 lipas
e 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 t
he T-480 allele of the hepatic lipase polymorphism were found to have highe
r HDL cholesterol levels (p=0.02). However, this difference was confined to
female subjects only. The male carriers of the -480T allele had higher con
centrations of total cholesterol (p=0.03) as compared to CC-480 subjects. B
oth associations were observed in 1996 only. In the Slavic Czech population
, a common polymorphism in the hepatic lipase gene (-480C/T), but not in th
e lipoprotein lipase gene (S447X), is a significant determinant of plasma H
DL cholesterol in females and plasma total cholesterol in males and indicat
es the importance of gender-associated effects in the genetic determination
s of plasma lipids.