|
Hypertriglyceridemia
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Since 2017, next-generation sequencing panels have identified pathogenic CNVs in at least five more genes underlying dyslipidemias, including a PCSK9 whole-gene duplication in familial hypercholesterolemia; LPL, GPIHBP1, and APOC2 deletions in hypertriglyceridemia; and ABCA1 deletions in hypoalphalipoproteinemia.
|
30664016 |
2019 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Previous studies have demonstrated that mutations in lipoprotein lipase (LPL), apolipoprotein CII (APOC2), apolipoprotein AV (APOA5), glycosylphosphatidylinositol anchored high-density lipoprotein-binding protein 1 (GPIHBP1), lipase maturation factor 1(LMF1), and glycerol-3 phosphate dehydrogenase 1 (GPD1) are responsible for HTG by using genomic microarrays and next-generation sequencing.
|
29910226 |
2019 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Variants in the lipoprotein lipase (LPL), apolipoprotein C-II (APOC2), apolipoprotein A-V (APOA5), GPIHBP1 and LMF1 genes may cause severe hypertriglyceridemia (HTG), which is now the second-leading aetiology of acute pancreatitis in China.
|
29921298 |
2018 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Mutations in LPL or its activator apolipoprotein C-II cause hypertriglyceridemia in humans and animal models.
|
28576574 |
2017 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We also review the 24 genetic mutations in the APOC2 gene reported to date that cause hypertriglyceridemia (HTG).
|
29100061 |
2017 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We identified a missense APOC2 variant causing apoC-II deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis.
|
28201738 |
2017 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.
|
26772541 |
2016 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
To elucidate the underlying mechanism of gestational hypertriglyceridemic pancreatitis, we undertook DNA mutation analysis of the lipoprotein lipase (LPL), apolipoprotein C2 (APOC2), apolipoprotein A5 (APOA5), lipase maturation factor 1 (LMF1), and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) genes in five unrelated pregnant Chinese women with severe hypertriglyceridemia and pancreatitis.
|
26079787 |
2015 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The hypertriglyceridemia in apoc2 mutants is rescued by injection of plasma from wild-type zebrafish or by injection of a human APOC2 mimetic peptide.
|
26044956 |
2015 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
In summary, C-II-a is a novel peptide based on apoC-II, which promotes cholesterol efflux and lipolysis and may therefore be useful for the treatment of apoC-II deficiency and other forms of hypertriglyceridemia.
|
25395590 |
2015 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
We performed detailed biochemical/genetic analyses of our new case of hypoapoC-II, manifesting severe hypertriglyceridemia (plasma triglycerides, 3235 mg·dL(-1)) with markedly reduced levels of plasma apoC-II (0.6 mg·dL(-1)).
|
23470567 |
2013 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
However, there is not enough current evidence to clarify whether increased apoC-II causes hypertriglyceridemia or is an epiphenomenon reflecting hypertriglyceridemia.
|
22304839 |
2012 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
APOA5 was analysed in 98 HTG individuals (plasma TG >9 mmol/L) in whom no mutations in LPL and APOC2 had been found.
|
21846464 |
2011 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The aim of this study was to determine the association of LPL and apo CII genes with acute attack of pancreatitis and chronic pancreatitis in patients with hyperlipidemic pancreatitis (HLP) and hypertriglyceridemia (HTG).
|
19034041 |
2009 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
LHGDN |
To investigate whether overexpression of LPL could correct this apoC-II-induced hypertriglyceridemia, mice with overexpression of human apoC-II (CII) were cross-bred with mice with two levels of muscle-specific human LPL overexpression (LPL-L or LPL-H).
|
17018885 |
2007 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
ApoC-II transgenic mice develop hypertriglyceridemia attributed to delayed clearance.
|
17018885 |
2007 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650).
|
17717288 |
2007 |
|
Hypertriglyceridemia
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
A patient with severe hypertriglyceridemia and recurrent pancreatitis was found to have significantly decreased lipoprotein lipase (LPL) activity and normal apolipoprotein C-II concentration in post-heparin plasma.
|
16431216 |
2006 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in LPL or APOC2 genes are recognized causes of inherited forms of severe hypertriglyceridemia.
|
15591215 |
2005 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
A cross experiment was done to determine the genetic background of hypertriglyceridemia observed in FLS mice. cDNA sequences of apoC-II and apoC-III of FLS mice were determined.
|
14506831 |
2003 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We have identified several new heterozygotes for the catalytically inactive, nonsecreted HL variant S267F in the kindred that was originally ascertained because of hypertriglyceridemia due to the mutant, secreted, circulating apolipoprotein (apo) CII variant apo CII-T. Pairwise comparisons with family controls showed that only the plasma low density lipoprotein triglycerides (LDL TGs) were higher in 11 simple heterozygotes for HL S267F (P=0.002).
|
9714127 |
1998 |
|
Hypertriglyceridemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Familial apolipoprotein C-II (apo C-II) deficiency is an autosomal recessive genetic disorder characterized by fasting hypertriglyceridemia and accumulation of chylomicrons in the plasma.
|
9126659 |
1997 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia.
|
8490626 |
1993 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II.
|
1619390 |
1992 |
|
Hypertriglyceridemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We have characterized the clinical and biochemical features of three siblings of a kindred with severe hypertriglyceridaemia due to apolipoprotein C-II (apo C-II) deficiency caused by the mutation described as apo C-IIHamburg.
|
1349286 |
1992 |