Genetics of type III hyperlipoproteinemia

Genetic Epidemiology

Volumn 14, Issue 3, 1997, Pages 283-297

  Feussner, Giso ^a,b   Piesch, Susanne ^a   Dobmeyer, Jürgen ^a   Fischer, Christine ^c  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b Abteilung Innere Medizin I   (Germany)

^c Institut fur Humangenetik   (Germany)

Author keywords

Apolipoprotein E; Dysbetalipoproteinemia; Type III hyperlipoproteinemia

Indexed keywords

APOLIPOPROTEIN E2; CHOLESTEROL; LIPID; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

ADULT; ARTICLE; CONTROLLED STUDY; DYSLIPIDEMIA; FAMILIAL HYPERLIPEMIA; FEMALE; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; HYPERLIPIDEMIA; HYPERLIPOPROTEINEMIA TYPE 3; HYPERTRIGLYCERIDEMIA; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PHENOTYPE;

ADULT; AGED; APOLIPOPROTEINS E; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPIDEMIAS; HYPERLIPOPROTEINEMIA TYPE III; ISOELECTRIC FOCUSING; LIPOPROTEIN LIPASE; LIPOPROTEINS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; STATISTICS, NONPARAMETRIC;

EID: 0030990216     PISSN: 07410395     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2272(1997)14:3<283::AID-GEPI6>3.0.CO;2-6     Document Type: Article

References (45)

1. Assmann G, Lenzen HJ (1985): Apolipoprotein E-Polymorphismus, Hyperlipidämie und Herzinfarktrisiko. Internist (Berlin) 26:692-700.
2. Assmann G, Schulte H (1993): Results and conclusions of the prospective cardiovascular Münster (PROCAM) study. In Assmann G (ed): "Lipid Metabolism Disorders and Coronary Heart Disease." München: MMV Medizin Verlag, pp 19-68.
3. Breckenridge WC, Little JA, Alaupovic P, Wang CS, Kuksis A, Kakis G, Lindgren F, Gardiner G (1982): Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. Atherosclerosis 45:161-179.
4. Breslow JL, Zannis VI, SanGiacomo TR, Third JL, Tracy T, Glueck CJ (1982): Studies of familial type III hyperlipoproteinemia using as a genetic marker the apo E phenotype E2/2. J Lipid Res 23:1224-1235.
5. Conover WJ (1980): "Practical Nonparametric Statistics." 2nd Ed. New York: John Wiley & Sons.
6. Dobmeyer J, Lohrmann J, Feussner G (1996): Prevalence and association of atherosclerosis at three different arterial sites in patients with type III hyperlipoproteinemia. Atherosclerosis 119:89-98.
7. 3500 → glutamine mutation in patients with type III hyperlipoproteinemia. Clin Genet 42:302-305.
8. Feussner G, Ziegler R (1991): Type III hyperlipoproteinemia in a patient with idiopathic hemochromatosis. Hum Genet 86:326-328.
9. Feussner G, Funke H, Weng W, Assmann G, Lackner KJ, Ziegler R (1992): Severe type III hyperlipoproteinemia associated with unusual apolipoprotein E1 phenotype and ε1/"null" genotype. Eur J Clin Invest 22:599-608.
10. Feussner G, Wagner A, Ziegler R (1993a): Relation of cardiovascular risk factors to atherosclerosis in type III hyperlipoproteinemia. Hum Genet 92:122-126.
11. Feussner G, Wagner A, Kohl B, Ziegler R (1993b): Clinical features of type III hyperlipoproteinemia: Analysis of 64 patients. Clin Invest 71:362-366.
12. Feussner G, Feussner V, Bommer J, Grützmacher P, Ziegler R (1994): Type III hyperlipoproteinemia and renal disease. Nutr Metab Cardiovasc Dis 4:96-100.
13. Feussner G, Albanese M, Mann WA, Valencia A, Schuster H (1996a): Apolipoprotein E2 (Arg-136 → Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinemia. Eur J Clin Invest 26:13-23.
14. Feussner G, Dobmeyer J, Gröne H-J, Lohmer S, Wohlfeil S (1996b): A 10-bp deletion in the apolipoprotein ε gene causing apolipoprotein E deficiency and severe type III hyperlipoproteinemia. Am J Hum Genet 58:281-291.
15. Feussner G, Dobmeyer J, Nissen H, Hansen TS (1996c): Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia. Am J Med Genet 65:149-154.
16. Fisher RE, Mailly F, Peacock RE, Hamsten A, Seed M, Yudkin JS, Beisiegel U, Feussner G, Miller G, Humphries SE, Talmud PJ (1995): Interaction of the lipoprotein lipase asparagine 291 → serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: A study in hyperlipidemic subjects, myocardial infarction survivors, and healthy adults. J Lipid res 36:2104-2112.
17. Glueck CJ, Tsang R, Fallat R, Bucher CR, Evans G, Steiner P (1973): Familial hypertriglyceridemia: Studies in 130 children and 45 siblings of 36 index cases. Metabolism 22:1287-1309.
18. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG (1973): Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 52:1544-1568.
19. Goldstein JL, Hobbs HH, Brown MS (1995): Familial hypercholesterolemia. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease." 7th Ed. New York: McGraw-Hill, pp 1981-2030.
20. Havel RJ, Eder HA, Bragdon JH (1955): The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest 34:1345-1353.
21. Hazzard WR, Bierman EL (1972): Aggravation of broad-β disease (type 3 hyperlipoproteinemia) by hypothyroidism. Arch Intern Med 130:822-828.
22. Hazzard WR, Miller N, Albers JJ, Warnick GR, Baron P, Lewis B (1981a): Association of isoapolipoprotein-E3 deficiency with heterozygous familial hypercholesterolemia: Implications for lipoprotein physiology. Lancet 1:298-301.
23. Hazzard WR, Warnick GR, Utermann G, Albers JJ (1981b): Genetic transmission of isoapolipoprotein E phenotypes in a large kindred: Relationship to dysbetalipoproteinemia and hyperlipidemia. Metabolism 30:79-88.
24. Hixson JE, Vernier DT (1990): Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res 31:545-548.
25. Leren TP, Solberg K, Rodningen OK, Tonstad S, Ose L (1994): Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 111:175-182.
26. Luley C, Baumstark MW, Wieland H (1991): Rapid apolipoprotein E phenotyping by immunofixation in agarose. J Lipid Res 32:880-883.
27. Mahley RW, Rall SC Jr (1995): Type III hyperlipoproteinemia (dysbetalipoproteinemia): The role of apolipoprotein E in normal and abnormal lipoprotein metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease." 7th Ed. New York: McGraw-Hill, pp 1953-1980.
28. Mailly F, Tugrul Y, Reymer PWA, Bruin T, Seed M, Groenemeyer BF, Asplund-Carlson A, Vallance D, Winder AF, Miller GJ, Kastelein JJP, Hamsten A, Olivecrona G, Humphries SE, Talmud PJ (1995): A common variant in the gene for lipoprotein lipase (Asp9 → Asn). Functional implications and prevalence in normal and hyperlipidemic subjects. Arterioscler Thromb Vasc Biol 15:468-478.
29. Morganroth J, Levy RI, Fredrickson DS (1975): The biochemical, clinical and genetic features of type III hyperlipoproteinemia. Ann Intern Med 82:158-174.
30. Rall SC Jr, Mahley RW (1992): The role of apolipoprotein E genetic variants in lipoprotein disorders. J Intern Med 231:653-659.
31. Reymer PWA, Gagne E, Groenemeyer BE, Zhang H, Forsyth I, Jansen H, Seidell JC, Kromhout D, Lie KE, Kastelein J, Hayden MR (1995): A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet 10:28-34.
32. Schaefer EJ, Gregg RE, Ghiselli G, Forte TM, Ordovas JM, Zech LA, Brewer HB Jr (1986): Familial apolipoprotein E deficiency. J Clin Invest 78:1206-1219.
33. Schaefer EJ, Genest JJ Jr, Ordovas JM, Salem DN, Wilson PWF (1993): Familial lipoprotein disorders and premature coronary artery disease. Curr Opin Lipidol 4:288-298.
34. Schneider WJ, Kovanen PT, Brown MS, Goldstein JL, Utermann G, Weber W, Havel RJ, Kotite L, Kane JP, Innerarity TL, Mahley RW (1981): Familial dysbetalipoproteinemia: Abnormal binding of mutant apolipoprotein E to low density lipoprotein receptors of human fibroblasts and membranes from liver and adrenals of rats, rabbits and cows. J Clin Invest 68:1075-1085.
35. Stuyt PMJ, Demacker PNM, van't Laar A (1984): Serum lipids, lipoproteins and apolipoprotein E phenotypes in relatives of patients with type III hyperlipoproteinemia. Eur J Clin Invest 14:219-226.
36. Utermann G (1987): Apolipoprotein E polymorphism in health and disease. Am Heart J 113:433-440.
37. Utermann G, Hees M, Steinmetz A (1977): Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinemia in man. Nature 269:604-607.
38. Utermann G, Vogelberg KH, Steinmetz A, Schoenborn W, Pruin N, Jaeschke M, Hees M, Canzler H (1979): Polymorphism of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III. Clin Genet 15:37-62.
39. Utermann G, Kindermann I, Kaffarnik H, Steinmetz A (1984): Apolipoprotein E phenotypes and hyperlipidemia. Hum Genet 65:232-236.
40. Vessby B, Hedstrand H, Lundin LG, Olsson U (1977): Inheritance of type III hyperlipoproteinemia. Lipoprotein patterns in first-degree relatives. Metabolism 26:225-254.
41. Warnick GR, Mayfield C, Albers JJ, Hazzard WR (1979): Gel isoelectric focusing method for specific diagnosis of familial hyperlipoproteinemia type 3. Clin Chem 25:279-284.
42. Weidman SW, Suarez B, Falko JM, Witztum JL, Kolar J, Raben M, Schonfeld G (1979): Type III hyperlipoproteinemia: Development of a VLDL apo E isoelectric focusing technique and application in family studies. J Lab Clin Med 93:549-569.
43. Zannis VI, Breslow JL (1981): Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification. Biochemistry 20:1033-1041.
44. Zannis VI, Just PW, Breslow JL (1981): Human apolipoprotein E isoprotein subclasses are genetically determined. Am J Hum Genet 33:11-24.
45. Zhang H, Reymer PWA, Liu M-S, Forsythe IJ, Groenemeyer BE. Frohlich J, Brunzell JD, Kastelein JJP, Hayden MR, Ma Y (1995): Patients with apo E3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291 → Ser mutation in the human LPL gene. Arterioscler Thromb Vasc Biol 15:1695-1703.