M. Arca et al., The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis, CLIN GENET, 58(5), 2000, pp. 369-374
Citations number
20
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
The present study evaluated the role of the common lipoprotein lipase (LPL)
mutations on the risk of dyslipidemia and coronary atherosclerosis in an I
talian population. Cohorts of 632 patients undergoing coronary angiography,
as well as 191 healthy controls, were screened by a combination of PCR and
restriction enzyme digestion. In the pooled population, the frequencies of
LPL D9N and N291S were 4.1%, with no homozygous carriers, whereas that of
LPL S447X was 21% with 19.6% heterozygous and 1.4% homozygous carriers. Com
pared to noncarriers, LPL N291S carriers showed higher plasma triglycerides
(TG) (p < 0.03) and increased risk of high TG phenotype (odds ratio [OR] 2
.49, 95% CI 1.06-5.81; p < 0.03). When this LPL mutation was associated wit
h high body mass index (BMI) (> 25 Kg/m(2)) or fasting, plasma insulin(> 10
.6 mU ml(-1)) significantly reduced HDL-C levels were also observed. Carrie
rs of the S447X mutation presented with higher HDL-C concentrations (p < 0.
05) as compared to non-carriers; they also showed a significantly reduced r
isk of high TG/Iow HDL-C dyslipidemia (OR 0.34, 95% CI 0.12-0.99; p < 0.05)
. The favourable effect of the LPL S447X variant was even more pronounced i
n lean subjects and in those with low insulin levels. No significant influe
nce on plasma lipids by the LPL D9N was observed. None of LPL variants was
a significant predictor of angiographically assessed coronary atheroscleros
is. At most, the risk was borderline, increased in N291S carriers and possi
bly decreased in S447X carriers.