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Editorial
. 2022 Sep 6;146(10):740-742.
doi: 10.1161/CIRCULATIONAHA.122.061233. Epub 2022 Sep 6.

Gain-of-Function Variants in Lipid Genes Enhance Biological Insight and Point Toward Therapeutic Opportunities

Sylvia Stankov  1 , Cecilia Vitali  1 , Daniel J Rader  1   2
Affiliations
Editorial

Gain-of-Function Variants in Lipid Genes Enhance Biological Insight and Point Toward Therapeutic Opportunities

Sylvia Stankov et al. Circulation. .
No abstract available

Keywords: Editorials; LIPC protein, human; cholesterol, HDL; cholesterol, LDL; dyslipidemias; gain-of-function mutation; phospholipases.

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Conflict of interest statement

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Figures

Figure.
Figure.. Observed or predicted effects on plasma lipids by gain-of-function (GoF) variants in selected lipid genes.
The diagram depicts the observed (bold) and predicted (italic) effects of GoF variants in selected genes on triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C). Color of the arrows refers to the lipid parameter affected by GoF variants in indicated genes: red - TG, blue - HDL-C, and yellow - LDL-C. Direction of the arrows indicates the direction of effect: ↑ increase or ↓ decrease of indicated lipid parameters. Gene symbols: APOA5, apolipoprotein A5; APOC3, apolipoprotein C3; LPL, lipoprotein lipase; ANGPTL3, angiopoietin like 3; PCSK9, proprotein convertase subtilisin/kexin type 9; LIPC, lipase C, hepatic type; LIPG, lipase G, endothelial type.
See this image and copyright information in PMC

Comment on

References

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