Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans
Why the study?
Do loss-of-function variants in endothelial lipase (LIPG) increase HDL cholesterol levels in humans?
Population
Cases with elevated HDL-C levels and controls with decreased HDL-C levels, along with a meta-analysis across…
Comparison
Loss-of-function mutations in endothelial… vs Controls without the loss-of-function mutations
Design
Other
Authors
Discussion
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Member takes
Implication
LIPG loss-of-function may raise HDL-C; hypothesis-generating for inhibition as therapeutic target.
Structured PICO
Do loss-of-function variants in endothelial lipase (LIPG) increase HDL cholesterol levels in humans?
P
Population
Cases with elevated HDL-C levels and controls with decreased HDL-C levels, along with a meta-analysis across 5 cohorts
I
Intervention
Loss-of-function mutations in endothelial lipase (LIPG), specifically the Asn396Ser variant
C
Comparator
Controls without the loss-of-function mutations (e.g., common Thr111Ile variant)
O
Outcome
HDL cholesterol (HDL-C) levels and endothelial lipase activitysurrogate
Loss-of-function mutations in endothelial lipase lead to increased HDL-C levels, suggesting LIPG inhibition as a potential therapeutic target for raising HDL-C.
Cite This Study
Edmondson et al. (2009) studied this question.