Apolipoprotein polymorphism

U5. Utermann, G., Apolipoprotein polymorphism and multifactoral hyperlipidaemia. J. Inherited Metab. Dis. 11, Suppl. 1, 74-86 (1988). 

Kamboh MI, Bunker CH, Aston CE et al. Genetic association of five apolipoprotein polymorphisms with serum lipoprotein-lipid levels in African blacks. Genet Epidemiol. 1999, 16 205-222. 

Kamboh MI, Ferrell RE. Genetic studies of human apolipoproteins. XV. An overview of IEF immunoblotting methods to screen apolipoprotein polymorphisms. Hum Hered. 1990, 40 193-207. 

Among the apolipoproteins, polymorphism of apoprotein E apparently dictates a subject s chances for successful treatment of lipidemia. The apoE alleles are designated as E2, E3, and E4. The most common pattern (55%) is homozygosity for E3, which gives rise to the E3/E3 phenotype. The next most common phenotype is E3/E4 (26%). The least frequently observed phenotype is E2/E (1%), which is often associated with type III hyperlipoproteinemia. There is some evidence suggesting that subjects bearing the E4 allele have higher levels of LDL than those with the E3/E3 pattern they may also be more... 

Thakkinstian, A, Bowe, S, McEvoy, M, Smith, W, and Attia, J, 2006. Association between apolipoprotein E polymorphisms and age-related macular degeneration A HuGE review and meta-analysis. Am J... 

Apolipoprotein AIV (apo AIV) is produced in the intestine and is found in chylomicrons, VLDL and HDL. It may modulate enzymes involved in lipoprotein metabolism and may serve as a saturation signal [49]. In a study with 144 participants the apo AIV His360Glu polymorphism showed no significant effect on cholesterol lowering in response to statin therapy [50]. 

Lipoprotein (a) is an independent risk factor for coronary artery disease [68]. It consists of two components an LDL particle and apolipoprotein (a) which are linked by a disulfide bridge. Apo(a) reveals a genetically determined size polymorphism, resulting from a variable number of plasminogen kringle IV-type repeats [69]. Statins either do not affect Lp(a) or may even increase Lp(a) [70, 71]. In a study of 51 FH patients, treated with 40 mgd 1 pravastatin, it has been shown that the increase in Lp(a) was greatest in patients with the low molecular-weight apo(a) phenotypes [70]. 

Aalto-Setala K, Kontula K, Manttari M, Huttunen J, Manninen V, Koski-nen P, et al. DNA polymorphisms of apolipoprotein B and AI/CIII genes and response to gemfibrozil treatment. Clin Pharmacol Ther 1991 50 208-214. 

Yamada M. Influence of apolipoprotein E polymorphism on bezafibrate treatment response in dyslipidemic patients. J Atheroscler Thromb 1997 4 40-44. 

Nestruck AC, Bouthillier D, Sing CF, Davignon J. Apolipoprotein E polymorphism and plasma cholesterol response to probucol. Metabolism 1987 36 743-747. 

Ojaia JP, Helve E, Ehnholm C, Aalto-Setaia K, Kontuia KK, Tikkanen MJ. Effect of apolipoprotein E polymorphism and Xbal polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non-familial hy-percholesterolaemia. J Intern Med 1991 230 397-405. 

In addition to the frequency considerations attendant to the examination of polymorphisms or haplotypes, one must also consider the impact of possible differences in the magnitude of effects of any putative loci. The magnitude of any effects is denoted as "scale" effects based on the notion from quantitative genetics that there will be a displacement from the overall population mean for a trait that is dependent on genotype. To illustrate the effects of scale and frequency, consider two well-known examples of genetic effects. These are the effect of the apolipoprotein E (apo E) polymorphism on cholesterol levels and the impact of the familial hypercholesterolemia polymorphism on cholesterol levels. 

K17. Klausen, I. C., Gerdes, L. U., Berg Schmidt, E., Dyerberg, J., and Faergeman, O., Differences in apolipoprotein(a) polymorphism in West Greenland Eskimos and Caucasian Danes. Hum. Genet. 89, 384-388 (1992). 

Salzer, B., Stavljenic, A., Jurgens, G., Dumic, M., and Radica, A., Polymorphism of apolipoprotein E, lipoprotein(a), and other lipoproteins in children with type I diabetes. Clin. Chem. (Winston-Salem, NC) 39, 1427-1432 (1993). 

CerviUa, J.A., Russ, C., Holmes, C., et al. (1999) CYP2D6 polymorphisms in Alzheimer s disease, with and without extrapyramidal signs, showing no apolipoprotein E epsilon 4 effect modification. Biol. Psychiatry, 45, 426-429. 

Eullerton, S.M., Clark, A.G., Weiss, K.M., et al. (2002) Sequence polymorphism at the human apolipoprotein All gene (APOA2) unexpected deficit of variation in an African-American sample. Hum. Genet., Ill, 75-87. 

Gueguen, R., Visvikis, S., Steinmetz, A., Siest, G., Boerwinkle, E. (1989) An analysis of genotype effect and their interactions by using the apolipoprotein E polymorphism and longitudinal data. Am. J. Hum. Genet., 45, 793-802. 

Wang, H.K., Fung, H.C., Hsu, W.C., et al. (2006) Apolipoprotein E, angiotensin-converting enzyme and kaUikrein gene polymorphisms and the risk of Alzheimer s disease and vascular dementia. J. Neural Transm., 113, 1499-1509. 

Ganguli M, Chandra V, Kamboh Ml, Johnston JM, Dodge HH, Thelma BK, Juyal RC, Pandav R, Belle SH, DeKosky ST. (2000) Apolipoprotein E polymorphism and Alzheimer disease The Indo-US cross-national dementia... 

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