Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)
Population
160 unrelated adults with fasting chylomicronemia and plasma triglycerides >10 mmol/L, 600 control subjects…
Comparison
Genetic screening of the coding regions of the… vs Genomes of 600 control subjects and 610 patients…
Design
Case-control
Authors
Discussion
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Implication
GPIHBP1 G56R may support targeted genetic evaluation in unexplained chylomicronemia; leaves open prevalence, causality, and screening utility pending larger studies.
Structured PICO
P
Population
160 unrelated adults with fasting chylomicronemia and plasma triglycerides >10 mmol/L (with normal sequence of LPL and APOC2 genes), 600 control subjects, and 610 patients with hyperlipidemia.
I
Intervention
Genetic screening of the coding regions of the GPIHBP1 gene.
C
Comparator
Genomes of 600 control subjects and 610 patients with hyperlipidemia.
O
Outcome
Presence of GPIHBP1 gene mutations.surrogate
A rare homozygous missense mutation (G56R) in the GPIHBP1 gene is associated with severe hypertriglyceridemia and fasting chylomicronemia.
Cite This Study
Wang et al. (2007) studied this question.