Apolipoprotein E genotyping and phenotyping in type II diabetes mellitus patients with hypertriglyceridemia

Clinical Biochemistry

Volumn 30, Issue 1, 1997, Pages 47-52

  Kim, Jeong Ho ^a   Lee, Eun Jig ^a   Kwon, Oh Hun ^b  

^a Yonsei University College of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

Author keywords

apolipoproteins E; gene frequency; genotypes; hypertriglyceridemia; isoelectric focusing; phenotypes; polymorphism; restriction fragment length polymorphisms; type II diabetes mellitus

Indexed keywords

APOLIPOPROTEIN E;

ADULT; AGED; ARTICLE; DISEASE ASSOCIATION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AGED; ALLELES; APOLIPOPROTEINS E; CHOLESTEROL; DIABETES MELLITUS, TYPE 2; GENOTYPE; HUMANS; HYPERTRIGLYCERIDEMIA; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0004890230     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-9120(96)00130-0     Document Type: Article

References (36)

1. Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988; 240: 622-30.
2. Mahley RW, Innerarity TL. Lipoprotein receptors and cholesterol homeostasis. Biochim Biophys Acta 1983; 737: 197-222.
3. Brown MS, Goldstein JL. Lipoprotein receptors in the liver. Control signals for plasma cholesterol traffic. J Clin Invest 1983; 72: 743-7.
4. Rall SC Jr, Weisgraber KH, Mahley RW. Human apolipoprotein E. The complete amino acid sequence. J Biol Chem 1982; 257: 4171-8.
5. Paik YK, Chang DJ, Reardon CA, Davies GE, Mahley RW, Taylor JM. Nucleotide sequence and structure of the human apolipoprotein E gene. Proc Natl Acad Sci USA 1985; 82: 3445-9.
6. Eto M, Watanabe K, Makino I, Ishii K. Apolipoprotein E allele frequencies in NIDDM with hypertriglyceridemia (type IIb, III, IV, and V hyperlipoproteinemia). Metabolism 1991; 40: 776-80.
7. Despres JP, Verdon MF, Moorjani S, et al. Apolipoprotein E polymorphism modifies relation of hyperin-sulinemia to hypertriglyceridemia. Diabetes 1993; 42: 1474-81.
8. Gregg RE, Zech LA, Schaefer EJ, Stark D, Wilson D, Brewer HB Jr. Abnormal in vivo metabolism of apolipoprotein E4 in humans. J Clin Invest 1986; 78: 815-21.
9. Imari Y, Koga S, Ibayashi H. Phenotypes of apolipoprotein E and abnormalities in lipid metabolism in patients with non-insulin-dependent diabetes mellitus. Metabolism 1988; 37: 1134-8.
10. Parhofer KG, Richter WG, Schwandt P. Apolipoprotein E phenotype frequency in type II diabetic patients with different forms of hyperlipoproteinemia. Horm Metab Res 1990; 22: 589-94.
11. Shriver MD, Boerwinkle E, Hewett-Emmett D. Frequency and effects of apolipoprotein E polymorphism in Mexican-American NIDDM subjects. Diabetes 1991; 40: 334-7.
12. Wages JM Jr, Hamdallah M, Calabro MA, et al. Clinical performance of a polymerase chain reaction testing algorithm for diagnosis of HIV-1 infection in peripheral blood mononuclear cells. J Med Virol 1991; 33: 58-63.
13. Sambrook J, Fritsch EF, Maniatis T. (Eds.) Molecular cloning; A laboratory manual. 2nd ed. Pp. E.3-E.5. New York: Cold Spring Harbor Laboratory Press, 1989.
14. Kontula K, Aalto-Setälä K, Kuusi T, Hämäläinen L, Syvänen A. Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by PCR: Convenient alternative to phenotyping by isoelectric focusing. Clin Chem 1990; 36: 2087-92.
15. Hill JS, Pritchard PH. Improved phenotyping of apolipoprotein E: Application to population frequency distribution. Clin Chem 1990; 36: 1871-4.
16. Snowden C, Houlston RS, Arif MH, Laker MF, Humphries SE, Alberti KGMM. Disparity between apolipoprotein E phenotypes and genotypes (as determined by polymerase chain reaction and oligonucleotide probes) in patients with noninsulin-dependent diabetes mellitus. Clin Chim Acta 1991; 196: 49-57.
17. Stavljenic-Rukavina A, Sertic J, Salzer B, et al. Apolipoprotein E phenotypes and genotypes as determined by polymerase chain reaction using allele-specific oligonucleotide probes and the amplification refractory mutation system in children with insulin-dependent diabetes mellitus. Clin Chim Acta 1993: 216: 191-8.
18. Kataoka S, Paidi M, Howard BV. Simplified isoelectric focusing/immunoblotting determination of apoprotein E phenotype. Clin Chem 1994; 40: 11-3.
19. Rall SC Jr, Weisgraber KH, Innerarity TL, Bersot TP, Mahley RW, Blum CB. Identification of a new structural variant of human apolipoprotein E, E2 (Lys 146 leads to Gln) in a type III hyperlipoproteinemic subject with the E3/2 phenotype. J Clin Invest 1983; 72: 1288-97.
20. Havekes L, de Wit E, Gevers Leaven JA, et al. Apolipoprotein E3-Leiden. A new variant of human apolipoprotein E associated with familial type III hyperlipoproteinemia. Human Genet 1986; 73: 157-63.
21. Wardell MR, Brennan SO, Janus ED, Fraser R, Carrell RW. Apolipoprotein E2-Christchurch (136 Arg Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. J Clin Invest 1987; 80: 483-90.
22. Hansen PS, Gerdes LU, Klausen IC, Gregersen N, Faergeman O. Genotyping compared with protein phenotyping of the common apolipoprotein E polymorphism. Clin Chim Acta 1994; 224: 131-7.
23. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res 1990; 31: 545-8.
24. Rail SC Jr, Weisgraber KH, Innerarity TL, Mahley RW. Identical structural and receptor binding defects in apolipoprotein E2 in hypo-, normo-, and hypercholesterolemic dysbetalipoproteinemia. J Clin Invest 1983; 72: 1288-97.
25. Zhao SP, Smelt AHM, Van den Maagdenberg AM, et al. Plasma lipoprotein profiles of normocholesterolemic and hypercholesterolemic homozygotes for apolipoprotein E2(Arg158 Cys) compared. Clin Chem 1994; 40: 1559-66.
26. Rexnik Y, Pousse P, Herrou M, et al. Postprandial lipoprotein metabolism in normotriglyceridemic noninsulin-dependent diabetic patients: Influence of apolipoprotein E polymorphism. Metabolism 1996; 45: 63-71.
27. Abrams JJ, Ginsberg H, Grundy SM. Metabolism of cholesterol and plasma triglycerides in nonketotic diabetes mellitus. Diabetes 1982; 31: 903-10.
28. Kissebah AH, Alfarsi S, Evans DJ, Adams PW. Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein B kinetics in noninsulin-dependent diabetes mellitus. Diabetes 1982; 31: 217-25.
29. Reaven GM. Noninsulin-dependent diabetes mellitus, abnormal lipoprotein metabolism and atherosclerosis. Metabolism 1987; 36: 1-8.
30. Schonfeld G. Hypertriglyceridemia in noninsulin-dependent diabetes mellitus. Semin Thromb Hemost 1988; 14: 184-8.
31. Brunzell JD, Porte D Jr, Bierman EL. Reversible abnormalities in postheparin lipolytic activity during the late phase of release in diabetes mellitus (postheparin lipolytic activity in diabetes). Metabolism 1975; 24: 1123-37.
32. Nikkila EA, Huttunen JK, Ehnholm C. Postheparin plasma lipoprotein lipase and hepatic lipase in diabetes mellitus. Diabetes 1977; 26: 11-21.
33. Taskinen M-R. Lipoprotein lipase in diabetes. Diabetes Metab Rev 1987; 3: 551-70.
34. Elbein SC, Yeager C, Kwong LK, et al. Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial noninsulin-dependent diabetes mellitus families. J Clin Endocrinol Metab 1994; 79: 1450-6.
35. Aalto-Setala K, Kontula K, Sane T, Nieminen M, Nikkila E. DNA polymorphisms of apolipoprotein A-I/ C-III and insulin genes in familial hypertriglyceridemia and coronary heart disease. Atherosclerosis 1987; 66: 145-52.
36. Zeng Q, Dammerman M, Takada Y, Matsunaga A, Breslow JL, Sasaki J. An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population. Human Genet 1995; 95: 371-5.