Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Familiäre kombinierte Hyperlipämie

Die kombinierte familiäre Hyperlipämie ist eine Fettstoffwechselstörung, die sowohl erhöhte Cholesterin- als auch Triglyceridwerte aufweist. Die Vererbung ist dominant.

Einteilung

Auf dieser Seite wird eine funktionelle Gliederung dargestellt. Die differenzierte molekulargenetische Untersuchung der einzelnen am Fettstoffwechsel beteiligten Gene erblaubt aufgrund der bekannten Lokalisation und Funktion der von diesen Genen kodierten Proteine eine funktionielle Zusammefassung von Störungen die Synthese und Abbau in den verschiedenen Organen betreffen.

Gliederung

Hyperlipämie
Chylomikronämie
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
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1
Kombinierte familiäre Hyperlipämie mit gestörter LDL-Clearance
ATF6
LDLR
PCSK9
Hypercholesterinämie
Hypertriglyceridämie
Mangel an lysosomaler saurer Lipase

Referenzen:

1.

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

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2.

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

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3.

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

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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.

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5.

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

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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.

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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.

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8.

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

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9.

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

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10.

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

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11.

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

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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.

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13.

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

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14.

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

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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.

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16.

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

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17.

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

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18.

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

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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.

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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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.

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