|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We speculated that the mutation D151N in LPL gene might be associated with FCHL and early-onset coronary heart disease in this family.
|
31599081 |
2020 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The cumulative prevalence of definite LPL defective alleles (1 rare and 2 common heterozygous missense variants) was comparable between FCHL and controls (10.1% vs. 10.5%).
|
26342331 |
2015 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Small and dense LDL in familial combined hyperlipidemia and N291S polymorphism of the lipoprotein lipase gene.
|
19335919 |
2009 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The apoE2 allele was negatively associated with hyperTG/hyperapoB (OR=0.49; p=0.002) in the absence of a deleterious LPL gene variant.
|
17848837 |
2007 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities in LPL function are associated with pathophysiological conditions, including familial combined hyperlipidemia (FCH).
|
16822320 |
2006 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, several candidate gene studies have replicated the influence of the lipoprotein lipase (LPL) gene and apolipoprotein A1/C3/A4/A5 (APOA1/C3/A4/A5) gene cluster in FCHL.
|
16938803 |
2006 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, we cannot exclude the participation of these genes, or the LIPC and LPL genes, as minor susceptibility loci in the expression of FCHL, or the TG or elevated total cholesterol (TC) traits in our families.
|
15469419 |
2004 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Postprandial triglyceride levels in familial combined hyperlipidemia. The role of apolipoprotein E and lipoprotein lipase polymorphisms.
|
12915220 |
2003 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
|
12966036 |
2003 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
AlteredExpression
|
disease |
LHGDN |
FCHL individuals carrying the LPL N291S gene showed higher plasma lipids and apolipoprotein B (apoB) levels compared with affected noncarriers.
|
12370850 |
2002 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
FCHL individuals carrying the LPL N291S gene showed higher plasma lipids and apolipoprotein B (apoB) levels compared with affected noncarriers.
|
12370850 |
2002 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we show that expression of human apoA-II in apoE-deficient mice induces a dose-dependent increase in VLDL, resulting in plasma triglyceride elevations of up to 24-fold in a mouse line that has 2-fold the concentration of human apoA-II of normolipidemic humans, as well as other well-known characteristics of FCHL: increased concentrations of cholesterol, triglyceride, and apoB in very low density lipoprotein (VLDL), intermediate density lipoprotein (IDL) and low density lipoprotein (LDL), reduced HDL cholesterol, normal lipoprotein lipase and hepatic lipase activities, increased production of VLDL triglycerides, and increased susceptibility to atherosclerosis.
|
10946021 |
2000 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Family analysis shows that in these FCHL families, carriers of mutations in the LPL or HL genes have an increased risk for FCHL compared with their non-carrier relatives.
|
10924721 |
2000 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recently, 'modifier' genes of the FCHL phenotype, such as the apolipoprotein AI-CIII-AIV gene cluster and LPL, have been identified in several populations.
|
10327279 |
1999 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.
|
9662394 |
1998 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects.
|
9719626 |
1998 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we have applied a pedigree-based maximum likelihood method to study the effect of LPL mutations on the phenotypic expression of FCHL in families.
|
9678774 |
1998 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial combined hyperlipidaemia (FCH) is not a single entity with a clearly defined cause but can occur through an increased fatty acid flux from adipose cells, lipoprotein lipase dysfunction or apolipoprotein CIII abnormalities.
|
9717061 |
1998 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, when haplotypes were constructed from multiple polymorphisms of the LPL and HL genes, no segregation with the FCHL phenotype could be observed in the 14 Finnish families.
|
9157946 |
1997 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
It is considerable clinical relevance that the apoC-III gene may be acting as a modifier gene that is only expressed in the presence of other factors (e.g., increased VLDL flux, low LPL activity) and therefore may predispose those members of FCHL families carrying the T1100 allele to express the FCHL phenotype.
|
9215535 |
1997 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate that the LPL(Asn291-->Ser) mutation is associated with elevated lipid levels, indicating it may be one of the genetic factors predisposing to FCHL in the families studied.
|
8808493 |
1996 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The finding of these two alleles among only the 20 patients with FCHL with reduced levels of LPL suggests an association with this phenotype.
|
8956036 |
1996 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
Biomarker
|
disease |
BEFREE |
Heterozygous lipoprotein lipase (LPL) deficiency has been associated with familial hypertriglyceridemia and familial combined hyperlipidemia.
|
8989135 |
1996 |
|
Hyperlipidemia, Familial Combined
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We screened a group of 28 probands with familial combined hyperlipidaemia and a group of 91 population controls for two LPL gene mutations, D9N and N291S.
|
8872057 |
1996 |