Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Jul;45(1):147–154.

Genetic studies of human apolipoproteins. IX. Apolipoprotein D polymorphism and its relation to serum lipoprotein lipid levels.

M I Kamboh 1, J J Albers 1, P P Majumder 1, R E Ferrell 1
PMCID: PMC1683387  PMID: 2741945

Abstract

Apolipoprotein D (APO D) is a constituent of plasma high-density lipoproteins. Its precise role in lipid metabolism is not well established, though it may be involved in cholesterol esterification and cholester ester transport to the liver for catabolism. No genetic polymorphism has been reported in the APO D gene product. To investigate the extent of genetic variation at the APO D structural locus, we have developed an isoelectric focusing-immunoblotting technique and have screened a large number of plasma samples from U.S. whites, U.S. blacks, Nigerian blacks, the Aleuts of the Pribilof Islands, Eskimo groups from Kodiak Island and St. Lawrence Island, and Amerindian populations from Mexico and Canada. Except for the U.S. blacks and Nigerian blacks, the APO D locus is monomorphic in all other population groups tested. In populations with black ancestry, the products of two alleles, APO D*1 and APO D*2, have been observed at respective allele frequencies .987 and .013 in U.S. blacks and .978 and .022 in Nigerian blacks. The detection of a unique protein polymorphism in blacks makes APO D a useful black marker of significance in anthropogenetics and racial admixture studies. In addition to the interindividual variation observed, APO D reveals extensive intraindividual molecular variation with a multiple banding pattern. The basis of this molecular variation is explained, in part, by variation in the number of terminal sialic acid residues. We have investigated the effect of the APO D polymorphism on triglycerides, total cholesterol, LDL-, VLDL-, HDL-, and HDL3 cholesterol in 352 Nigerian blacks (190 males and 162 females).(ABSTRACT TRUNCATED AT 250 WORDS)

Full text

PDF
147

Images in this article

149Figure 1
on p.149
150Figure 2
on p.150

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Albers J. J., Cheung M. C., Ewens S. L., Tollefson J. H. Characterization and immunoassay of apolipoprotein D. Atherosclerosis. 1981 Jun;39(3):395–409. doi: 10.1016/0021-9150(81)90025-3. [DOI] [PubMed] [Google Scholar]
  2. Albers J. J., Taggart H. M., Applebaum-Bowden D., Haffner S., Chesnut C. H., 3rd, Hazzard W. R. Reduction of lecithin-cholesterol acyltransferase, apolipoprotein D and the Lp(a) lipoprotein with the anabolic steroid stanozolol. Biochim Biophys Acta. 1984 Sep 12;795(2):293–296. doi: 10.1016/0005-2760(84)90078-x. [DOI] [PubMed] [Google Scholar]
  3. Breslow J. L. Apolipoprotein genetic variation and human disease. Physiol Rev. 1988 Jan;68(1):85–132. doi: 10.1152/physrev.1988.68.1.85. [DOI] [PubMed] [Google Scholar]
  4. Curry M. D., McConathy W. J., Alaupovic P. Quantitative determination of human apolipoprotein D by electroimmunoassay and radial immunodiffusion. Biochim Biophys Acta. 1977 Mar 28;491(1):232–241. doi: 10.1016/0005-2795(77)90059-9. [DOI] [PubMed] [Google Scholar]
  5. Davignon J., Gregg R. E., Sing C. F. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis. 1988 Jan-Feb;8(1):1–21. doi: 10.1161/01.atv.8.1.1. [DOI] [PubMed] [Google Scholar]
  6. DeCroo S., Kamboh M. I., Leppert M., Ferrell R. E. Isoelectric focusing of superoxide dismutase: report of the unique SOD A*2 allele in a US white population. Hum Hered. 1988;38(1):1–7. doi: 10.1159/000153745. [DOI] [PubMed] [Google Scholar]
  7. Drayna D. T., McLean J. W., Wion K. L., Trent J. M., Drabkin H. A., Lawn R. M. Human apolipoprotein D gene: gene sequence, chromosome localization, and homology to the alpha 2u-globulin superfamily. DNA. 1987 Jun;6(3):199–204. doi: 10.1089/dna.1987.6.199. [DOI] [PubMed] [Google Scholar]
  8. Drayna D., Fielding C., McLean J., Baer B., Castro G., Chen E., Comstock L., Henzel W., Kohr W., Rhee L. Cloning and expression of human apolipoprotein D cDNA. J Biol Chem. 1986 Dec 15;261(35):16535–16539. [PubMed] [Google Scholar]
  9. Drayna D., Scott J. D., Lawn R. Multiple RFLPs at the human apolipoprotein D (APOD) locus. Nucleic Acids Res. 1987 Nov 25;15(22):9617–9617. doi: 10.1093/nar/15.22.9617. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Fielding P. E., Fielding C. J. A cholesteryl ester transfer complex in human plasma. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3327–3330. doi: 10.1073/pnas.77.6.3327. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Haffner S. M., Applebaum-Bowden D., Wahl P. W., Hoover J. J., Warnick G. R., Albers J. J., Hazzard W. R. Epidemiological correlates of high density lipoprotein subfractions, apolipoproteins A-I, A-II, and D, and lecithin cholesterol acyltransferase. Effects of smoking, alcohol, and adiposity. Arteriosclerosis. 1985 Mar-Apr;5(2):169–177. doi: 10.1161/01.atv.5.2.169. [DOI] [PubMed] [Google Scholar]
  12. Humphries S. E. DNA polymorphisms of the apolipoprotein genes--their use in the investigation of the genetic component of hyperlipidaemia and atherosclerosis. Atherosclerosis. 1988 Aug;72(2-3):89–108. doi: 10.1016/0021-9150(88)90069-x. [DOI] [PubMed] [Google Scholar]
  13. Kamboh M. I., Ferrell R. E. Genetic studies of low abundance human plasma proteins. II. Population genetics of coagulation factor XIIIB. Am J Hum Genet. 1986 Dec;39(6):817–825. [PMC free article] [PubMed] [Google Scholar]
  14. Kamboh M. I., Ferrell R. E., Kottke B. Genetic studies of human apolipoproteins. V. A novel rapid procedure to screen apolipoprotein E polymorphism. J Lipid Res. 1988 Nov;29(11):1535–1543. [PubMed] [Google Scholar]
  15. Kamboh M. I., Sepehrnia B., Ferrell R. E. Genetic studies of human apolipoproteins. VI. Common polymorphism of apolipoprotein E in blacks. Dis Markers. 1989 Jan-Mar;7(1):49–55. [PubMed] [Google Scholar]
  16. McConathy W. J., Alaupovic P. Isolation and partial characterization of apolipoprotein D: a new protein moiety of the human plasma lipoprotein system. FEBS Lett. 1973 Dec 1;37(2):178–182. doi: 10.1016/0014-5793(73)80453-3. [DOI] [PubMed] [Google Scholar]
  17. Sepehrnia B., Kamboh M. I., Adams-Campbell L. L., Nwankwo M., Ferrell R. E. Genetic studies of human apolipoproteins. VII. Population distribution of polymorphisms of apolipoproteins A-I, A-II, A-IV, C-II, E, and H in Nigeria. Am J Hum Genet. 1988 Dec;43(6):847–853. [PMC free article] [PubMed] [Google Scholar]
  18. Utermann G. Apolipoprotein E polymorphism in health and disease. Am Heart J. 1987 Feb;113(2 Pt 2):433–440. doi: 10.1016/0002-8703(87)90610-7. [DOI] [PubMed] [Google Scholar]
  19. Weech P. K., Camato R., Milne R. W., Marcel Y. L. Apolipoprotein D and cross-reacting human plasma apolipoproteins identified using monoclonal antibodies. J Biol Chem. 1986 Jun 15;261(17):7941–7951. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES