Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyperlipämie

Die Hyperlipämie ist eine Fettstoffwechselstörung, die durch erhöhte Cholesterin- und/oder Triglyceridwerte gekennzeichnet ist.

Gliederung

Dyslipidämie
Apolipoprotein-Mangel
Betalipoprotein-Mangel
Epigenetische Dyslipidämie
Hyperalphalipoproteinämie 1
Hyperalphalipoproteinämie 2
Hyperlipämie
Chylomikronämie
APOA5
APOC2
APOE
GPIHBP1
LPL
Familiäre kombinierte Hyperlipämie
Kombinierte familiäre Hyperlipämie mit Dysfunktion des Fettgewebes
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Kombinierte familiäre Hyperlipämie mit VLDL-Überproduktion
APOE
GCKR
OSBPL10
USF1
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LPL
RXRG
USF1
Kombinierte familiäre Hyperlipämie mit gestörter LDL-Clearance
ATF6
LDLR
PCSK9
Hypercholesterinämie
Autosomal dominante Hypercholesterinämie 1
LDLR
Autosomal dominante Hypercholesterinämie 2
APOB
Autosomal dominante Hypercholesterinämie 3
PCSK9
Autosomal rezessive Hypercholesterinämie
LDLRAP1
Lp(a) Hyperlipoproteinämie
LPA
Veranlagung für hohes LDL-Cholesterin
HMGCR
Hypertriglyceridämie
APOA5
APOE
GPIHBP1
Kombinierter Lipasemangel
LMF1
LIPC
LIPE
LPL
Veranlagung für hohe Triglyceridwerte
ANGPTL4
Mangel an lysosomaler saurer Lipase
LIPA
Hypoalphalipoproteinämie
Hypobetalipoproteinemie

Referenzen:

1.

Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia.

[^]
2.

Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.

[^]
3.

Pajukanta P et. al. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

[^]
4.

Putt W et al. (2004) Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II.

[^]
5.

Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.

[^]
6.

Goldstein JL et al. (1973) Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.

[^]
7.

Yang WS et al. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.

[^]
8.

Aouizerat BE et. al. (1999) A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11.

[^]
9.

Geurts JM et al. (2000) Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia.

[^]
10.

Bodnar JS et. al. (2002) Positional cloning of the combined hyperlipidemia gene Hyplip1.

[^]
11.

Brunzell JD et al. (1976) Myocardial infarction in the familial forms of hypertriglyceridemia.

[^]
12.

Pajukanta P et al. (2003) Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q.

[^]
13.

van der Vleuten GM et al. (2004) Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia.

[^]
14.

Wojciechowski AP et al. (1991) Familial combined hyperlipidaemia linked to the apolipoprotein AI-CII-AIV gene cluster on chromosome 11q23-q24.

[^]
15.

Nishina PM et al. (1992) Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19.

[^]
16.

Rauh G et al. (1990) Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia.

[^]
17.

Ito Y et al. (1990) Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice.

[^]
18.

Babirak SP et al. () Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.

[^]
19.

Taş S et al. (1989) Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs.

[^]
20.

Rose HG et al. (1973) Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype.

[^]
21.

Kissebah AH et al. () Low density lipoprotein metabolism in familial combined hyperlipidemia. Mechanism of the multiple lipoprotein phenotypic expression.

[^]
22.

Chait A et al. (1983) Severe hypertriglyceridemia: role of familial and acquired disorders.

[^]
23.

Xu CF et al. (1994) Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia.

[^]
24.

Rotter JI et al. (1996) Multilocus genetic determinants of LDL particle size in coronary artery disease families.

[^]
25.

Bredie SJ et al. (1996) Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia.

[^]
26.

Masucci-Magoulas L et al. (1997) A mouse model with features of familial combined hyperlipidemia.

[^]
27.

Bredie SJ et al. (1997) Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity.

[^]
28.

Wijsman EM et al. (1998) Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex.

[^]
29.

Pajukanta P et. al. (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23.

[^]
30.

Castellani LW et. al. (1998) Mapping a gene for combined hyperlipidaemia in a mutant mouse strain.

[^]
31.

Juo SH et al. (1998) A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia.

[^]
32.

Allayee H et al. (1998) Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype.

[^]