Effects of TM6SF2 E167K on hepatic lipid and very low-density lipoprotein metabolism in humans
Why the study?
The molecular mechanisms underlying the association of the TM6SF2 E167K variant with NAFLD and reduced plasma triglyceride levels remained unclear.
Does the TM6SF2 E167K genetic variant reduce hepatic VLDL secretion in humans?
Population
10 homozygote TM6SF2 E167K carriers and 10 matched controls
Comparison
Homozygote TM6SF2 E167K carriers vs matched controls
Design
Case-control kinetic study using stable-isotope tracer and compartmental modeling
Authors
Discussion
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Member takes
Implication
Supports TM6SF2 E167K cardioprotection via VLDL modulation; hypothesis-generating, not yet practice-changing.
Structured PICO
Does the TM6SF2 E167K genetic variant reduce hepatic VLDL secretion in humans?
P
Population
20 human subjects (10 homozygote TM6SF2 E167K carriers and 10 matched controls)
I
Intervention
Homozygous TM6SF2 E167K genetic variant
C
Comparator
Matched controls without the TM6SF2 E167K variant
O
Outcome
Kinetics of apolipoprotein B100 (apoB100) and triglyceride metabolism in VLDL subfractions (VLDL1 and VLDL2)surrogate
The TM6SF2 E167K genetic variant reduces hepatic secretion of large triglyceride-rich VLDL1, providing a mechanistic explanation for the associated lower plasma triglyceride levels and reduced cardiovascular risk.
Cite This Study
Borén et al. (2020) studied this question.