Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypertriglyceridämie

Die Hypertriglyceridämie ist eine Fettstoffwechselstörung mit überwiegend erhöhten Triglyceriden im Blutplasma.

Gliederung

Hyperlipämie
Chylomikronämie
Familiäre kombinierte Hyperlipämie
Hypercholesterinämie
Hypertriglyceridämie
APOA5
APOE
GPIHBP1
Kombinierter Lipasemangel
LMF1
LIPC
LIPE
LPL
Transiente infantile Hypertriglyceridämie
GPD1
Veranlagung für hohe Triglyceridwerte
ANGPTL4
Mangel an lysosomaler saurer Lipase

Referenzen:

1.

Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes.

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2.

Kao JT et al. (2003) A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia.

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3.

Breckenridge WC et al. (1978) Hypertriglyceridemia associated with deficiency of apolipoprotein C-II.

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4.

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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5.

Duggirala R et al. (2000) A major susceptibility locus influencing plasma triglyceride concentrations is located on chromosome 15q in Mexican Americans.

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6.

Brunzell JD et al. (1975) Evidence for diabetes mellitus and genetic forms of hypertriglyceridemia as independent entities.

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7.

Wen XY et al. (2003) Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.

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8.

Johansen CT et al. (2010) Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.

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9.

Namboodiri KK et al. (1977) Segregation and linkage analyses of a large pedigree with hypertriglyceridemia.

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10.

Glueck CJ et al. (1980) Pancreatitis, familial hypertriglyceridemia, and pregnancy.

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