Abstract
In this study we have analysed the apolipoprotein (Apo) E polymorphism and polymorphisms of the ApoB gene, including the ApoB/Xba I and ApoB/4311 diallelic polymorphisms and a hypervariable region (HVR) situated in the 3′ region of the gene (ApoB/3′HVR), in a sample of healthy male subjects from Taiyuan (northern People's Republic of China). In comparison to Caucasian populations, in the Chinese sample, the Xba I2 allele (presence of cutting site; frequency 6.1%; and 95% confidence interval, 3.3–8.9) and the long HVR alleles (9.4%; 6.0–12.8) were rare, whereas the ApoB/4311 (Ser) allele (70.8%; 65.4–76.2) and the 34-repeat allele of the HVR (HVR34; 62.4%; 56.8–68.0) were frequent. In subjects having none, one, or two HVR34 alleles, the mean levels of plasma triglycerides were 2.32±1.44 (SD), 1.45+0.74, and 1.75±1.07 g/l, respectively (P < 0.007). Similar trends were observed for very low density lipoprotein (VLDL) cholesterol, LpE:B, and LpCIII:B. The frequencies of the ApoE alleles were similar to those reported in other populations of Asian origin; E2 (7.4%; 4.2–10.6), E3 (84.4%; 80.2–88.6), and E4 (8.2%; 5.0–11.4). Individuals carrying the E2 allele had a lower mean level of ApoB than E33 individuals: 0.87±0.16 and 1.00±0.22 g/l, respectively (P < 0.007). Individuals carrying the E4 allele had higher levels of ApoE than E33 individuals: 0.140±0.084 and 0.094±0.052 g/l, respectively (P < 0.004); similar trends were observed for VLDL cholesterol, triglycerides, LpE:B, and LpCIII:B. The ApoB/ HVR34 and ApoE/E4 polymorphisms accounted for 10% to 15% of the variability of the plasma levels of VLDL cholesterol, ApoE, triglycerides, LpE:B, and LpCIII:B. Several lipid variables appeared to be favourably affected by specific forms of ApoB and ApoE that are particularly frequent in this Chinese population.
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References
Aalto-Setälä K, Viikari J, Akerblom HK, Kuusela V, Kontula K (1991) The XbaI polymorphism (allele 2) is associated with higher levels of LDL cholesterol in young Finns. J Lipid Res 32:1477–1487
Alaupovic P (1991) Apolipoprotein composition as the basis for classifying plasma lipoproteins: characterization of ApoA and ApoB-containing lipoprotein families. Prog Lipid Res 30:105–138
Berg K (1986) DNA polymorphism at the apolipoprotein B locus is associated with lipoprotein level. Clin Genet 30:515–520
Berg K, Hannes C, Dahlen G, Frick H, Krishan I (1976) Genetic variation in serum low density lipoproteins and lipid levels in man. Proc Natl Acad Sci USA 73:937–940
Boerwinkle E, Utermann G (1988) Simultaneous effects of the apolipoprotein E polymorphism on apolipoprotein E, apolipoprotein B and cholesterol metabolism. Am J Hum Genet 42:104–112
Cambien F, Evans AE, Cambou JP, Arveiler D, Luc G, Moreel JFR, Jouin E, Desmarais E, Bard JM, Poirier O, Fruchart JC, Tiret L (1992) Body mass is associated with myocardial infarction in individuals carrying the 48 repeats allele of the 3′ hypervariable region. Am J Hum Genet 51:A146
Chen Z, Peto R, Collins R, MacMahon S, Lu J, Li W (1991) Serum cholesterol concentration and coronary heart disease in a population with low cholesterol concentrations. BMJ 303:276–282
Dallongeville J, Roy M, Leboeuf N, Xhignesse M, Davignon J, Lussier-Cacan S (1991) Apolipoprotein E polymorphism association with lipoprotein profile in endogeneous hypertriglyceridemia and familial hypercholesterolemia. Arterioscler Thromb 11:272–278
Davignon J, Gregg RE, Sing CF (1988) ApoE polymorphism and atherosclerosis. Arteriosclerosis 8:1–21
Dunning AM, Renges HH, Xu CF, Peacock R, Brasseur R, Laxer G, Tikkanen MJ. Bütler R, Saha N, Hamsten A, Rosseneu M, Talmud P, Humphries SE (1992) Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism. Am J Hum Genet 50:208–221
Efron B, Tibshirani R (1991) Statistical data analysis in the computer age. Science 253:390–395
Ehnholm C, Lukka M, Kuusi T, Nikkila E, Utterman G (1986) Apolipoprotein E polymorphism in the Finnish population: gene frequencies and relation to lipoprotein concentrations. J Lipid Res 27:227–235
Friedl W, Ludwig EH, Paulweber B, Sandhofer F, McCarthy BJ (1990) Hypervariability in a minisatellite 3′ of the apolipoprotein B gene in patients with coronary heart disease compared with normal controls. J Lipid Res 31:659–665
Gerdes LU, Klausen IC, Sihm I, Faegerman 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
Guo WS, Thompson EA (1992) Performing the exact test of HardyWeinberg proportion for multiple alleles. Biometrics 48:361–372
Hallman DM, Boerwinkle E, Saha N, Sandholzer C, Menzel HJ, Csazar A, Utermann G (1991) The apolipoprotein E polymorphism: a comparison of allele frequencies and effects in nine populations. Am J Hum Genet 49:338–349
Hanis CL, Hewett-Emmett D, Douglas TC, Bertin TK, Schull WJ (1991) Effects of the apolipoprotein E polymorphism on levels of lipids, lipoproteins and apolipoproteins among Mexican Americans in Starr county, Texas. Arterioscler Thromb 11:362–370
Hegele RA, Huang LS, Herbert PN, Blum CB, Buring JE, Hennekens CH, Breslow JL (1986) Apolipoprotein B gene DNA polymorphisms associated with myocardial infarction. N Engl J Med 315:1509–1515
Hill WG (1975) Tests of association of gene frequencies at several loci in random mating diploid populations. Biometrics 31:881–888
Houlston RS, Snowden C, Green F, Alberti KGMM, Humphries SE (1989) ApoE genotypes by polymerase chain reaction and allele-specific oligonucleotide probes: no detectable linkage disequilibrium between ApoE and ApoCII. Hum Genet 83:364–368
Kobori S, Nakamura N, Uzawa H, Shichiri M (1988) Influence of apolipoprotein E polymorphism on plasma lipid and apolipoprotein levels and clinical characteristics of type III hyperlipoproteinemia due to apolipoprotein E phenotype E2/2 in Japan. Atherosclerosis 69:81–88
Law A, Wallis SC, Powell LM, Pease RJ, Brunt H, Priestley LM, Knott TJ, Scott J, Altman DG, Miller GJ, Rajput J, Miller NE (1986) Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels. Lancet 1:1301–1303
Mahley RW (1988) Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 240:622–630
Masaki K, Shinomiya M, Shirai K, Saito Y, Yoshida S (1990) Frequency and role of ApoE phenotype in familial hypercholesterolemia and nonfamilial hyperlipidemia in the Japanese. Atherosclerosis 82:197–204
Moreel JFR, Roizes G, Evans AE, Arveiler D, Cambou JP, Souriau C, Parra HJ, Desmarais E, Fruchart JC, Ducimetière P, Cambien F (1992) The polymorphism ApoB/4311 in patients with myocardial infarction and controls: the ECTIM study. Hum Genet 89:176–180
Myant NB, Gallagher J, Barbir M, Thompson GR, Wile D, Humphries SE (1989) Restriction fragment length polymorphisms in the apo B gene in relation to coronary heart disease. Atherosclerosis 77:193–201
Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York
Parra HJ, Arveiler D, Evans AE, Cambou JP, Amouyel P, Bingham A, McMaster D, Schaffer P, Douste-Blazy P, Luc G, Richard JL, Ducimetiere P, Fruchart JC, Cambien F (1992) A case control study of lipoprotein particles in two populations at contrasting risk for coronary heart disease: the ECTIM study. Arterioscler Thromb 12:701–707
Paulweber B, Friedl W, Krempler F, Humphries SE, Sandhofer F (1990) Association of DNA polymorphism at the apolipoprotein B gene locus with coronary heart disease and serum very low density lipoprotein levels. Arteriosclerosis 10:17–24
Renges HH, Wile DB, McKeigue PM, Marmot MG, Humphries SE (1991) Apolipoprotein B gene polymorphisms are associated with lipid levels in men of South Asian descent. Atherosclerosis 91:267–275
Saha N (1987) Serum high density lipoprotein cholesterol, apolipoprotein AI, AII and B levels in Singapore ethnic groups. Atherosclerosis 68:117–121
Saha N, Tay JSH, Humphries SE (1992) Apolipoprotein B-gene DNA polymorphisms (XbaI and EcoRI), serum lipids, and apolipoproteins in healthy Chinese. Genet Epidemiol 9:1–10
Sandholzer C, Boerwinkle E, Saha N, Tong MC, Utermann G (1992) Apolipoprotein(a) phenotypes, Lp(a) concentration and plasma lipid levels in relation to coronary heart disease in a Chinese population: evidence for the role of the apo(a) gene in coronary heart disease. J Clin Invest 89:1040–1046
Smit M, Knijff P de, Rosseneu M, Bury J, Klasen E, Frants R, Havekes L (1988) Apolipoprotein E polymorphism in the Netherlands and its effect on plasma lipid and apolipoprotein levels. Hum Genet 80:287–292
Talmud PJ, Barni N, Kessling AM, Carlsson P, Darnfors C, Bjursell G, Galton D, Wynn V, Kirk H, Hayden MR, Humphries SE (1987) Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normoand hyperlipidemic individuals. Atherosclerosis 67:81–89
Weintraub MS, Eisenberg S, Breslow JL (1987) Dietary fat clearance in normal subjects is regulated by genetic variation in apolipoprotein E. J Clin Invest 80:1571–1577
WHO MONICA Project Principal Investigators (1989) The WHO MONICA Project: a worldwide monitoring system for cardiovascular disease. World Health Statist Ann pp 27–149
Xhignesse M, Lussier-Cacan S, Sing CF, Kessling A, Davignon J (1991) Influences of common variants of apolipoprotein E on measures of lipid metabolism in a sample selected for health. Arterioscler Thromb 11:1100–1110
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Evans, A.E., Zhang, W., Moreel, J.F.R. et al. Polymorphisms of the apolipoprotein B and E genes and their relationship to plasma lipid variables in healthy Chinese men. Hum Genet 92, 191–197 (1993). https://doi.org/10.1007/BF00219691
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DOI: https://doi.org/10.1007/BF00219691