What question did this study set out to answer?

To identify the frequency of the lipoprotein lipase gene Asp9Asn variant across healthy and hyperlipidemic populations and evaluate its functional impact on lipid levels.

April 1, 1995Arteriosclerosis Thrombosis and Vascular BiologyOpen Access

A Common Variant in the Gene for Lipoprotein Lipase (Asp9→Asn)

View Full Paper

Ask AI

Bookmark

Why the study?

Does the LPL-Asn9 variant increase plasma triglyceride levels in humans?

Key Points

To identify the frequency of the lipoprotein lipase gene Asp9Asn variant across healthy and hyperlipidemic populations and evaluate its functional impact on lipid levels.
Screened 1,563 healthy controls and patients with combined hyperlipidemia, type IV hyperlipoproteinemia, or atherosclerosis from Dutch, Swedish, English, and Scottish cohorts using PCR and Taq I restriction digestion.
Tracked plasma lipid levels and postheparin LPL activity in a cohort of 773 healthy UK men across three annual follow-up visits.
Assessed enzyme mass and catalytic function in vitro via site-directed mutagenesis and transient expression in COS cells.
Mutation carrier frequency ranged from 1.6% to 4.4% (mean, 3.0%; 95% CI, 2.0% to 4.0%) in healthy controls and was roughly twice as high (4.0% to 9.8%) in patients with combined hyperlipidemia, type IV hyperlipoproteinemia, or atherosclerosis.
Among 773 healthy men, 27 carriers exhibited significantly elevated plasma triglycerides compared to noncarriers (2.25 vs 1.82 mmol/L, P < 0.02), an elevation maintained across 3 annual measurements.
In vitro expression revealed that LPL-Asn9 reduced total media LPL activity and mass by 20% to 30% and lowered specific activity by 18% relative to wild-type LPL.

Structured PICO

Does the LPL-Asn9 variant increase plasma triglyceride levels in humans?

Population

1563 healthy individuals and patients with combined hyperlipidemia (CHL), type IV hyperlipoproteinemia, or angiographically assessed atherosclerosis of Dutch, Swedish, English, and Scottish origin, and an additional cohort of 773 healthy men from two general practices in the United Kingdom.

Intervention

Presence of the LPL-Asn9 variant (Asp9 to Asn substitution in exon 2 of the lipoprotein lipase gene)

Comparator

Noncarriers of the LPL-Asn9 variant

Outcome

Plasma triglyceride levels, plasma cholesterol levels, and postheparin LPL activitysurrogate

The LPL-Asn9 variant is associated with reduced lipoprotein lipase activity and significantly higher plasma triglyceride levels, predisposing carriers to hypertriglyceridemia.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

Should not yet change practice; supports LPL-Asn9 contribution to triglyceride variation but leaves causal risk open.

Cite This Study

Mailly et al. (1995) studied this question.

synapsesocial.com/papers/6a6f23ba22b3175134db417c https://doi.org/10.1161/01.atv.15.4.468

View Full Paper

Ask AI

Bookmark

A Common Variant in the Gene for Lipoprotein Lipase (Asp9→Asn)

Key Points

Structured PICO

Discussion

Implication

Cite This Study

A Common Variant in the Gene for Lipoprotein Lipase (Asp9→Asn)

Key Points

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider