Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women

We assessed the effect of two common mutations in the lipoprotein lipase gene (LPL), D9N and N291S, which have been shown to modulate plasma lipids in a wide spectrum of patients.A total of 1 114 men and 1 144 women from the Framingham Offspring Study (FOS) were analyzed for these two LPL variants....

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Published in:Clinical genetics 1999-10, Vol.56 (4), p.297-305
Main Authors: Kastelein, John Jp, Ordovas, Jose M, Wittekoek, Marianne E, Pimstone, Simon N, Wilson, Peter Wf, Gagné, S Eric, Larson, Martin G, Schaefer, Ernest J, Boer, Jolanda Ma, Gerdes, Christian, Hayden, Michael R
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cardiology. Vascular system
Cholesterol, HDL - blood
Cholesterol, HDL - genetics
Cohort Studies
Coronary Disease - genetics
Coronary heart disease
Female
Gene Frequency
genetics
Genotype
Heart
Humans
lipids
Lipids - blood
Lipids - genetics
lipoprotein lipase
Lipoprotein Lipase - genetics
lipoproteins
Male
Medical sciences
mutation
Mutation, Missense
Phenotype
Prospective Studies
Regression Analysis
Risk Factors
Sex Factors
Triglycerides - blood
Triglycerides - genetics
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Summary:We assessed the effect of two common mutations in the lipoprotein lipase gene (LPL), D9N and N291S, which have been shown to modulate plasma lipids in a wide spectrum of patients.A total of 1 114 men and 1 144 women from the Framingham Offspring Study (FOS) were analyzed for these two LPL variants. Subsequently, the association with fasting plasma lipids and risk of coronary artery disease (CHD) was determined. We extended our study by calculating weighed means of lipids and lipoproteins in carriers and non‐carriers for these LPL mutations in patients with genetic dyslipidemias, CHD patients and healthy controls.In the FOS sample, the D9N and N291S alleles were associated with lower high‐density lipoprotein‐cholesterol (HDL‐C) (Δ=−0.07 mmol/l, p=0.03) and a trend towards increased triglycerides (Δ=0.25 mmol/l, p=0.07). In women, a trend towards the high triglyceride, low HDL‐C phenotype was evident (Δ=−0.02 mmol/l for HDL‐C and Δ=0.14 mmol/l for triglycerides, respectively). Cumulative analysis of other studies of male carriers of the D9N and N291S revealed higher levels of triglycerides (D291N; 2.60(1.85) mmol/l vs. 1.62(1.18) mmol/l: p
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.1999.560407.x