Hyperalphalipoproteinemia 1 is a Hyperlipoproteinemia characterized by hight HDL levels which is caused by mutations of the CETP gene. Mode of inheritance is variable dominant as well as recessive forms are described. Affected probands are characterized by longevity.
In general, probands with hyperalphalipoproteinemia are characterized by a lower-than-average risk of cardiovascular disease. In hyperalphalipoproteinemia 1 not only HDL are increased, but also LDL decreased further enhancing the anti-atherogenic effect. Probands stand out because of their longevity.
Hyperalphalipoproteinemia is characterized by a specific lipid electrophoresis pattern, a height alpha peak. Additionally the size of the HDL particles is greater than average and the concentration of LDL-particles lower.
1. |
Spirin V et al. (2007) Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. |
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. |
3. |
Kuivenhoven JA et al. (1997) Heterogeneity at the CETP gene locus. Influence on plasma CETP concentrations and HDL cholesterol levels. |
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. |
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. |
8. |
Siervogel RM et al. (1980) Familial hyper-alpha-lipoproteinemia in 26 kindreds. |
9. |
Koizumi J et al. (1985) Deficiency of serum cholesteryl-ester transfer activity in patients with familial hyperalphalipoproteinaemia. |
11. |
Paigen B et al. (1987) Ath-1, a gene determining atherosclerosis susceptibility and high density lipoprotein levels in mice. |
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. |
13. |
Glueck CJ et al. (1977) Neonatal familial hyperalphalipoproteinemia. |
14. |
Glueck CJ et al. (1975) Familial hyper-alpha-lipoproteinemia: studies in eighteen kindreds. |
15. |
Glueck CJ et al. (1975) Familial hyperalphalipoproteinemia. |
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. |
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. |
19. |
Brousseau ME et al. (2004) Effects of an inhibitor of cholesteryl ester transfer protein on HDL cholesterol. |
21. |
Kronenberg F et al. (2002) Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees. |
22. |
Schaefer EJ et al. (2000) Perspectives: Benefits of reducing low-density lipoprotein cholesterol concentrations to <100 mg/dL. |
24. |
Altshuler D et al. (1998) Genetic polymorphisms and disease. |
25. |
Aulchenko YS et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. |
26. |
Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events. |
28. |
None (1984) A pedigree of homozygous familial hyperalphalipoproteinemia. |
29. |
Inazu A et al. (1990) Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. |
30. |
Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids. |
31. |
OMIM.ORG article Omim 143470 |