Influence of apolipoprotein E genotypes on plasma lipid and lipoprotein concentrations: Results from a segregation analysis in pedigrees with molecularly defined familial hypercholesterolemia

Genetic Epidemiology

Volumn 13, Issue 2, 1996, Pages 159-177

  Friedlander, Yechiel ^a   Leitersdorf, Eran ^b  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

apo E; familial hypercholesterolemia; lipids; lipoproteins; segregation analysis

Indexed keywords

APOLIPOPROTEIN E; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LIPOPROTEIN; LIPOPROTEIN A; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LIPID BLOOD LEVEL; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MULTIFACTORIAL INHERITANCE; PEDIGREE ANALYSIS; SEGREGATION ANALYSIS;

ADOLESCENT; ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; APOLIPOPROTEINS E; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; ENVIRONMENTAL HEALTH; EVALUATION STUDIES; FEMALE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INFANT; LIPIDS; LIPOPROTEINS; MALE; MEIOSIS; MIDDLE AGED; PEDIGREE; SEX FACTORS; VARIATION (GENETICS);

EID: 0029936847     PISSN: 07410395     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2272(1996)13:2<159::AID-GEPI3>3.0.CO;2-3     Document Type: Article

References (73)

1. Ahn YI, Kamboh AI, Aston CE, Ferrell RE, Hamman RF (1994): Role of common genetic polymorphisms in the LDL receptor gene in affecting plasma cholesterol levels in the general population. Arterioscler Thromb 14:663-670.
2. Albers JJ, Wahl P, Hazzard WR (1974): Quantitative genetic studies of the human plasma Lp(a) lipoprotein. Biochem Genet 11:475-487.
3. Borecki IB, Rao DC, Third JLHC, Laskarzewski PM, Glueck CJ (1986): A major gene for primary hypoalphalipoproteinemia. Am J Hum Genet 38:373-381.
4. Boerwinkle E. Visvikis S, Welsh D, Steinmetz J, Hanash SM, Sing CF(1987): The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability, and covariability of cholesterol, beta-hpoprotein, and triglycerides in a sample of unrelated individuals. Am J Med Genet 27:567-582.
5. Brown MS, Goldstein JL (1986): A receptor-mediated pathway for cholesterol homeostasis. Science 232:34-47.
6. Cannings C, Thompson EA (1977): Ascertainment in the sequential sampling of pedigrees. Clin Genet 12:208-212.
7. Dallongeville J, Roy M, Leboeuf N, Xhignesse M, Davignon J (1991): Apolipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolemia. Arterioscler Thromb 11:272-278.
8. Dallongeville J. Lussier-Cacan S. Davignon J (1992): Modulation of plasma triglyceride levels by apoE phenotype: a meta-analysis. J Lipid Res 33:447-454.
9. Davignon J, Gregg RE, Sing CF (1988): Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8:1-21.
10. de Knijff, Kaptein A, Boomsma D, Princen HMG, Frants RR, Havekes LM (1991): Apolipoprotein E polymorphism affects plasma levels of lipoprotein(a). Atherosclerosis 90:169-174.
11. Demenais F, Lathrop M, Lalouel JM (1986): Robustness and power of the unified model in the analysis of quantitative measurements. Am J Hum Genet 38:228-234.
12. Demmant T, Beford D, Packard CJ, Shepherd J (1991): Influence of apolipoprotein E polymorphism on apolipoprotein B-100 metamoIism in normolipidaemic subjects. J Clin Invest 88:1490-1501.
13. Elston RC, Stewart J (1971): A general model for the genetic analysis of pedigree data. Hum Hered 21:523-542.
14. Eto M, Watanabe K, Chonan N, Ishii K (1988): Familial hypercholesterolemia and apolipoprotein E4. Atherosclerosis 72:123-128.
15. Ferneres J, Sing CF, Roy M, Davignon J, Lussier-Cacan S (1994): Apolipoprotein E polymorphism and heterozygous familial hypercholesterolemia. Sex-specific effects. Arterioscler Thromb 14:1553-1560.
16. Friedewald WT, Levey RI, Fredrickson DS (1972): Estimation of the concentration of low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge. Clin Chem 18:499-502.
17. Friedlander Y, Cohen T, Stenhouse N, Davies AM, Stein Y (1982a): Familial aggregation of total cholesterol, triglyceride and high density Iipoprotein-cholesterol in an Israeli population sample. Isr J Med Sci 18:1137-1143.
18. Friedlander Y, Kark JD, Eisenberg S, Stein Y (1982b): Calculation of LDL-cholesterol from total cholesterol, triglyceride and HDL-cholesterol: a comparison of methods in the Jerusalem Lipid Research Clinic prevalence study. Isr J Med Sci 18:1242-1252.
19. Fnedlander Y, Leitersdorf E (1995): Segregation analysis of plasma lipoprotein(a) levels in pedigrees with molecularly defined familial hypercholesterolemia. Genet Epidemol 12:129-143.
20. Garrison RT, Castelli WP, Feinleib M, Kannel WB, Havlik RJ, Padgett ST, McNamara PM (1979): The association of total cholesterol, triglycerides and plasma lipoprotein levels in first degree relatives and spouse pairs. Am J Epidemiol 110:313-321.
21. Gerdes LU, Klausen IC, Sihm I. Faergeman O (1992): Apolipoprotein E polymorphism in a Danish population compared to findings in 45 other study populations around the world. Genet Epidemiol 9:155-167.
22. Gylling H, Kuusi T, Vanhanen H, Miettinen TA (1989): Apolipoprotein E phenotype and cholesterol metabolism in familial hypercholesterolemia. Atherosclerosis 80:27-32.
23. Gylling H, Aalto-Stetala K, Kontula K, Mietinen TA (1991): Serum low density lipoprotein cholesterol levels and cholesterol absorption efficiency are influenced by apolipoprotein B and E polymor-phism and by the FH-Helsinki mutation of the low density lipoprotein receptor gene in familial hypercholesterolemia. Arterioscler Thromb 11:1368-1375.
24. Hasstedt SJ, Cartwright PE (1981): PAP: Pedigree analysis package. Tech rep no 13, Department of Biophysics and Computing, University of Utah, Salt Lake City.
25. Hasstedt SJ, Williams RR (1986): Three alleles for quantitative Lp(a). Genet Epidemiol 3:53-55.
26. Hasstedt SJ, Wilson DE, Edwards CQ, Cannon WN, Carmelli D, Williams RR (1983): The genetics of quantitative plasma Lp(a): analysis of a large pedigree. Am J Med Genet 16:179-188.
27. Hasstedt SJ, Albers JJ, Cheung MC, Jorde LB, Wilson DE, Edwards CQ, Cannon WN, et al. (1984): The inheritance of high density lipoprotein cholesterol and apolipoprotein A-I and A-II. Atherosclerosis 51:21-29.
28. Hewitt D, Milner J, Owen ARG, Breckenridge WC, Macquire CF, Jones JGL, Little JA (1977): Heritability of "sinking" pre-beta lipoprotein level: a twin study. Clin Genet 11:224-226.
29. Hixon JE, Vernier DT (1990): Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaL J Lipid Res 31:545-548.
30. Hobbs HH, Brown MS, Goldstein JL (1992): Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutation 1:445-466.
31. Innerarity TL, Mahley RW (1978): Enhanced binding by cultured human fibroblasts of apo-E containing lipoproteins as compared to low density lipoproteins. Biochemistry 17:1440-1447.
32. Knight BL, Perombelon YFN, Soutar AK, Wade DP, Seed M (1991): Catabolism of lipoprotein(a) in familial hypercholesterolaemic subjects. Atherosclerosis 878:227-237.
33. Koivisto PVI, Koivisto U-M, Miettinen TA, Kontula K (1992): Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examinations and analysis of serum lipid levels. Arteriosler Thromb 12:584-592.
34. Kostner GM, Gavish D, Leopold B, Bolzano K, Weintraub MS, Breslow JL (1989): HMG CoA reductase inhibitors lower LDL cholesterol without reducing Lp(a) levels. Circulation 80:1313-1319.
35. Lalouel JM, Rao DC, Morton NE, Elston RC (1983): A unified model for complex segregation analysis. Am J Hum Genet 35:816-826.
36. Landsberger D, Meiner V, Reshef A, Levy Y, van der Westhuyzen DR, Coetzee GA, Leitersdorf E (1992): A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. Am J Hum Genet 50:427-433.
37. Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL (1987): The Lebanese allele at the LDL receptor gene locus: nonsense mutation produces truncated receptor that is retained in the endoplasmic reticulum. J Biol Chem 262:401-410.
38. Leitersdorf E, Friedlander Y, Bard JM, Fruchart JC, Eisenberg S, Stein Y (1991): Diverse effect of ethnicity on plasma lipoprotein (a) levels in heterozygote patients with familial hypercholesterolemia. J Lipid Res 32:1513-1519.
39. Leitersdorf E, Reshef A, Meiner V, Dann EJ, Beigel Y, van Roggen FG, van der Westhuyzen DR, Coetzee GA (1993): A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. Hum Genet 91:141-147.
40. Lindahl G, Mailly F, Humphries S, Seed M (1994): Apolipoprotein E phenotype and lipoprotein(a) in familial hypercholesterolaemia: implication for lipoprotein(a) metabolism. Clin Invest 72:631-638.
41. MacLean CJ, Morton NE, Elston RC, Lew R (1975): Analysis of familial resemblance in operational characteristics of segregation analysis. Am J Hum Genet 27:365-384.
42. MacLean CJ, Morton NE, Elston RC, Yee S (1976): Skewness in commingled distributors. Biometrics 32:695-699.
43. Mahley RW, Innerarity TL (1983): Lipoprotein receptors and cholesterol homostasis. Biochim Biophys Acta 737:197-222.
44. Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel HC, van der Westhuyzen DR, Jeenah MS, Coetzee GA, Leitersdorf E (1991): A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am J Hum Genet 49:443-449.
45. Moorjani S, Gagne C, Lupien PJ, Brun D (1986): Plasma triglycerides related decrease in high-density lipoprotein cholesterol and its association with myocardial infarction in heterozygous familial hypercholesterolemia. Metabolism 35:311-316.
46. Moorjani S, Roy M, Torres A, Betrad C, Gagne C, Lambert M, Brun D, Davignon J, Lupien P (1993): Mutations of low-density-lipoprotein-receptor gene. variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia. Lancet 341:1303-1306.
47. Morton NE (1979): Genetics of hyperuricemia in families with gout. Am J Med genet 4:103-106.
48. Morton NE, Berg K, Dahlen G, Ferrell RE, Rhoads GG (1985): Genetics of the Lp lipoprotein in Japanese-Americans. Genet Epidemiol 2:113-121.
49. Namboodiri KK, Elston RC, Hames C (1977): Segregation and linkage analyses of a large pedigree with hypertriglyceridemia. Am J Med Genet 1:157-171.
50. Namboodiri KK, Green PP, Kaplan EB, Morrison JA, Chase GA, Elston RC, Owen ARG, Rifkind BM, Glueck CJ, Tyroler HA (1984): The Collaborative Lipid Research Clinics program family study IV. Familial association of plasma lipids and lipoproteins. Am J Epidemiol 119:975-996.
51. Namboodiri KK, Kaplan EB, Heuch I, Elston RC, Green PP, Rao DC, Laskarzewski P, Glueck CJ, Rifkind BM (1985): The Collaborative Lipid Research Clinics program family study: biological and cultural determinants of familial resemblance of plasma lipids and lipoproteins. Genet Epidemiol 2:227-254.
52. Ojala J-P, Helve E, Ehnholm C, Aalto-Setala K, Kontula KK, Tikkanen MJ (1991): Effect of apolipoprotein E polymorphism and Xbal polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non-familial hypercholesterolemia. J Intern Med 230:397-405.
53. Pedersen JC, Berg K (1989): Interaction between low density lipoprotein receptor (LDLR) and apolipoprotein E (apoE) alleles contributes to normal variation in lipid levels. Clin Genet 35:331-337.
54. Pedersen JC, Berg K (1990): Gene-Gene interaction between the low density lipoprotein receptor and apolipoprotein E loci affects lipid levels. Clin Genet 38:287-294.
55. Perusse L, Moll PP, Sing CF (1991): Evidence that a single gene with gender- and age-dependent effects influences systolic blood pressure determination in a population-based sample. Am J Hum Genet 49:94-105.
56. Salzer B, Stavljenic A, Jurgens G, Dumic M, Radica A (1993): Polymorphism of apolipoprotein E, lipoprotein(a), and other lipoproteins in children with type I diabetes. Clin Chem 39:1427-1432.
57. Sandkamp M, Funke H, Schulte H, Kohler E, Assmann G (1990): Lipoprotein(a) is an independent risk factor of myocardial infarction at a young age. Clin Chem 36:20-23.
58. Seed MChB, Hoppichler F, Reaveley D, McCarthy S, Thompson GR, Boerwinkle E, Utermann G (1990): Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia. N Eng J Med 322:1494-1499.
59. Sing CF, Davignon J (1985): Role of apoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet 34:268-285.
60. Sokal RR. Rohlf FJ (1969): "Biometry. The Principles and Practice of Statistics in Biological Research." San Francisco: WH Freeman and company.
61. Soutar AK, Myant NB, Thompson GR (1982): The metabolism of very low and intermediate density lipoproteins in patients with familial hypercholesterolemia. Atherosclerosis 43:217-231.
62. Steinmetz A, Jakobs C, Motzny S, Kaffarnik H (1989): Differential distribution of apolipoprotein E isoforms in human plasma lipoproteins. Arteriosclerosis 9:405-411.
63. "The Lipid Research Clinic Population Studies Data Book, Vol I, the Prevalence Study." (1980): NIH publication No. 80-1527.
64. Utermann G, Hees M, Steinmetz A (1977): Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinemia in man. Nature 289:604-607.
65. Utermann G, Pruin N, Steinmetz A (1979): Polymorphism of apolipoprotein E. III. Effect of a single polymorphic gene locus on plasma lipid levels in man. Clin Genet 15:63-72.
66. Utermann GH, Menzel HJ, Kraft HG, Duba HC, Kemmler HG, Seitz C (1987): Lp(a) glycoprotein phenotypes: inheritance and relation to Lp(a)-lipoprotein concentrations in plasma. J Clin Invest 80:458-465.
67. Utermann G, Hoppichler F, Dieplinger H, Seed M, Thompson G, Boerwinkle E (1989): Defects in the low density lipoprotein receptor gene affect lipoprotein (a) levels: Mulitplicative interaction of two gene loci associated with atherosclerosis. Proc Natl Acad Sci USA 86:4171-4174.
68. Vu Dac NH, Mezdour H, Parra HJ, Luc G, Luyeye I, Fruchart JC (1989): A selective bi-site immunoenzymatic procedure for human Lp(a) lipoprotein quantitation using monoclonal antibodies against apo(a) and apoB. J Lipid Res 30:1437-1443.
69. White AL, Rainwater DL, Lanford RE (1993): Intracellular maturation of apolipoprotein(a) and assembly of lipoprotein(a) in primary baboon hepatocytes. J Lipid Res 34:509-517.
70. Wiklund O, Angelin B, Olofsson SO, Eriksson M, Fager G, Berglund L, Bondjers G (1990): Apolipoprotein(a) and ischemic heart disease in familial hypercholesterolemia. Lancet 335:1360-1363.
71. Williams WR, Lalouel JM (1982): Complex segregation of hyperlipidemia in a Seattle sample. Hum Hered 32:24-36.
72. Young MR, Boehnke M, Moll PP (1988): Correction for single ascertainment by truncation for a quantitative trait. Am J Hum Genet 43:705-708.
73. Zannis VF, Breslow JL (1981): Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and post-translational modification. Biochemistry 20:1033-1041.