The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis

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.