October 1, 1999Clinical Genetics
Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women
Why the study?
Do D9N and N291S mutations in the LPL gene modulate plasma lipids and lipoproteins in men and women?
Population
2,258 participants from the Framingham Offspring Study, along with patients with genetic dyslipidemias, CHD…
Comparison
Carrier status for D9N and N291S mutations in… vs Non-carriers of the D9N and N291S LPL mutations
Design
Cohort
Authors
Discussion
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Member takes
Implication
Observational LPL variant data support lipid modulation in both sexes; leaves open effects on CVD events or need for genotyping in practice.
Structured PICO
Do D9N and N291S mutations in the LPL gene modulate plasma lipids and lipoproteins in men and women?
P
Population
2,258 participants (1,114 men and 1,144 women) from the Framingham Offspring Study (FOS), along with patients with genetic dyslipidemias, CHD patients, and healthy controls included in a cumulative analysis of other studies.
I
Intervention
Carrier status for D9N and N291S mutations in the lipoprotein lipase (LPL) gene
C
Comparator
Non-carriers of the D9N and N291S LPL mutations
O
Outcome
Fasting plasma lipids (HDL-C and triglycerides) and lipoproteinssurrogate
Common variants (D9N and N291S) of the LPL gene are significant modulators of lipid and lipoprotein levels, specifically lowering HDL-C and increasing triglycerides.
Cite This Study
Kastelein et al. (1999) studied this question.