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Hyperalphalipoproteinämie 1

Hyperalphalipoproteinämie 1 ist eine Hyperlipoproteinämie, die allein durch hohe HDL-Spiegel gekennzeichnet ist und durch Mutationen im CETP-Gen verusrsacht wird. Der Vererbungsmodus ist unterschiedlich. Es sind dominante als auch rezessive Formen beschrieben. Meist zeichnen sich die Merkmalsträger durch eine besondere Langlebigkeit aus.

Klinischer Befund

Klinisch sind die Hyperalphalipoproteinämien durch ein eher erniedrigtes Risiko für Herz-Kreislauf-Erkrankungeen gekennzeichnet. Bei der Hyperalphalipoproteinämie 1 bestehen neben den hohen HDL auch besonders niedrige LDL-Werte, was die anti-atherogene Wirkung noch weiter verstärkt. Merkmalsträger erreichen oft ein beträchtliches Alter.

Diagnosestellung

Bei der Lipidelektrophorese fällt der besonders hohe alpha Peak auf. Die HDL-Partikel sind sowohl vermehrt als auch vergrößert. Gleichzeitig kommt es zu einer erniedrigung der LDL-Partikel.

Gliederung

Dyslipidämie
Apolipoprotein-Mangel
Betalipoprotein-Mangel
Epigenetische Dyslipidämie
Hyperalphalipoproteinämie 1
CETP
Hyperalphalipoproteinämie 2
Hyperlipämie
Hypoalphalipoproteinämie
Hypobetalipoproteinemie

Referenzen:

1.

Spirin V et al. (2007) Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.

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2.

Dullaart RP et al. (1997) Cholesteryl ester transfer protein gene polymorphism is a determinant of HDL cholesterol and of the lipoprotein response to a lipid-lowering diet in type 1 diabetes.

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3.

Kuivenhoven JA et al. (1997) Heterogeneity at the CETP gene locus. Influence on plasma CETP concentrations and HDL cholesterol levels.

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4.

Zhong S et al. (1996) Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels.

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5.

Freeman DJ et al. (1994) Regulation of plasma HDL cholesterol and subfraction distribution by genetic and environmental factors. Associations between the TaqI B RFLP in the CETP gene and smoking and obesity.

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6.

Hannuksela ML et al. (1994) Relation of polymorphisms in the cholesteryl ester transfer protein gene to transfer protein activity and plasma lipoprotein levels in alcohol drinkers.

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7.

Fumeron F et al. (1995) Alcohol intake modulates the effect of a polymorphism of the cholesteryl ester transfer protein gene on plasma high density lipoprotein and the risk of myocardial infarction.

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8.

Siervogel RM et al. (1980) Familial hyper-alpha-lipoproteinemia in 26 kindreds.

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9.

Koizumi J et al. (1985) Deficiency of serum cholesteryl-ester transfer activity in patients with familial hyperalphalipoproteinaemia.

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10.

Kurasawa T et al. (1985) Rate of cholesteryl ester transfer between high and low density lipoproteins in human serum and a case with decreased transfer rate in association with hyperalphalipoproteinemia.

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11.

Paigen B et al. (1987) Ath-1, a gene determining atherosclerosis susceptibility and high density lipoprotein levels in mice.

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12.

Kondo I et al. (1989) DNA polymorphism at the locus for human cholesteryl ester transfer protein (CETP) is associated with high density lipoprotein cholesterol and apolipoprotein levels.

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13.

Glueck CJ et al. (1977) Neonatal familial hyperalphalipoproteinemia.

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14.

Glueck CJ et al. (1975) Familial hyper-alpha-lipoproteinemia: studies in eighteen kindreds.

external link
15.

Glueck CJ et al. (1975) Familial hyperalphalipoproteinemia.

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16.

Frisdal E et al. (2005) Functional interaction between -629C/A, -971G/A and -1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study.

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17.

Mohrschladt MF et al. (2005) TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia.

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18.

Borggreve SE et al. (2005) The effect of cholesteryl ester transfer protein -629C->A promoter polymorphism on high-density lipoprotein cholesterol is dependent on serum triglycerides.

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19.

Brousseau ME et al. (2004) Effects of an inhibitor of cholesteryl ester transfer protein on HDL cholesterol.

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20.

Klerkx AH et al. (2003) Haplotype analysis of the CETP gene: not TaqIB, but the closely linked -629C-->A polymorphism and a novel promoter variant are independently associated with CETP concentration.

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21.

Kronenberg F et al. (2002) Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees.

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22.

Schaefer EJ et al. (2000) Perspectives: Benefits of reducing low-density lipoprotein cholesterol concentrations to <100 mg/dL.

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23.

Durlach A et al. (1999) Sex-dependent association of a genetic polymorphism of cholesteryl ester transfer protein with high-density lipoprotein cholesterol and macrovascular pathology in type II diabetic patients.

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24.

Altshuler D et al. (1998) Genetic polymorphisms and disease.

external link
25.

Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

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26.

Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.

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27.

Kuivenhoven JA et al. (1998) The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group.

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28.

None (1984) A pedigree of homozygous familial hyperalphalipoproteinemia.

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29.

Inazu A et al. (1990) Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.

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30.

Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.

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31.

OMIM.ORG article

Omim 143470 external link
Update: 14. August 2020
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