Skip to main content
The Journal of Clinical Investigation logoLink to The Journal of Clinical Investigation
. 1985 Sep;76(3):1090–1095. doi: 10.1172/JCI112062

Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia.

A Rees, J Stocks, C R Sharpe, M A Vella, C C Shoulders, J Katz, N I Jowett, F E Baralle, D J Galton
PMCID: PMC423995  PMID: 2995445

Abstract

A DNA sequence polymorphism, revealed by digestion of human DNA with the restriction endonuclease Sst-1 and hybridization with an apolipoprotein A-I complementary DNA clone, has been shown to be located in or close to the 3' noncoding region of the apolipoprotein C-III gene. This polymorphism is found in significantly increased prevalence (P less than 0.001) in Caucasian hypertriglyceridemic subjects compared with race-matched controls, and its distribution in normal individuals of differing racial origins is reported. Furthermore, no alteration of high density lipoprotein or apolipoprotein A-I and apolipoprotein C-III phenotypes was observed in individuals with or without the polymorphism.

Full text

PDF
1091

Images in this article

Selected References

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

  1. Baginsky M. L., Brown W. V. Differential characteristics of purified hepatic triglyceride lipase and lipoprotein lipase from human postheparin plasma. J Lipid Res. 1977 Jul;18(4):423–437. [PubMed] [Google Scholar]
  2. Breckenridge W. C., Little J. A., Steiner G., Chow A., Poapst M. Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med. 1978 Jun 8;298(23):1265–1273. doi: 10.1056/NEJM197806082982301. [DOI] [PubMed] [Google Scholar]
  3. Carlson L. A. Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia. Eur J Clin Invest. 1982 Feb;12(1):41–53. doi: 10.1111/j.1365-2362.1982.tb00938.x. [DOI] [PubMed] [Google Scholar]
  4. Franceschini G., Sirtori C. R., Capurso A., 2nd, Weisgraber K. H., Mahley R. W. A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family. J Clin Invest. 1980 Nov;66(5):892–900. doi: 10.1172/JCI109956. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. François J., Lentini F., Hoste P., Rottiers R. Genetic study of hyperlipoproteinaemia types IV and V. Clin Genet. 1977 Oct;12(4):202–207. doi: 10.1111/j.1399-0004.1977.tb00927.x. [DOI] [PubMed] [Google Scholar]
  6. Holdsworth G., Stocks J., Dodson P., Galton D. J. An abnormal triglyceride-rich lipoprotein containing excess sialylated apolipoprotein C-III. J Clin Invest. 1982 Apr;69(4):932–939. doi: 10.1172/JCI110532. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Karathanasis S. K., McPherson J., Zannis V. I., Breslow J. L. Linkage of human apolipoproteins A-I and C-III genes. 1983 Jul 28-Aug 3Nature. 304(5924):371–373. doi: 10.1038/304371a0. [DOI] [PubMed] [Google Scholar]
  8. Karathanasis S. K., Norum R. A., Zannis V. I., Breslow J. L. An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis. Nature. 1983 Feb 24;301(5902):718–720. doi: 10.1038/301718a0. [DOI] [PubMed] [Google Scholar]
  9. Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Rees A., Shoulders C. C., Stocks J., Galton D. J., Baralle F. E. DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia. Lancet. 1983 Feb 26;1(8322):444–446. doi: 10.1016/s0140-6736(83)91440-x. [DOI] [PubMed] [Google Scholar]
  11. Robinson D. S., Wing D. R. Studies on tissue clearing factor lipase related to its role in the removal of lipoprotein triglyceride from the plasma. Biochem Soc Symp. 1971;(33):123–135. [PubMed] [Google Scholar]
  12. Scanu A. M., Edelstein C. Solubility in aqueous solutions of ethanol of the small molecular weight peptides of the serum very low density and high density lipoproteins: relevance to the recovery problem during delipidation of serum lipoproteins. Anal Biochem. 1971 Dec;44(2):576–588. doi: 10.1016/0003-2697(71)90247-8. [DOI] [PubMed] [Google Scholar]
  13. Sharpe C. R., Sidoli A., Shelley C. S., Lucero M. A., Shoulders C. C., Baralle F. E. Human apolipoproteins AI, AII, CII and CIII. cDNA sequences and mRNA abundance. Nucleic Acids Res. 1984 May 11;12(9):3917–3932. doi: 10.1093/nar/12.9.3917. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  15. Stocks J., Holdsworth G., Dodson P., Galton D. J. An abnormal triglyceride-rich lipoprotein carrying excess apolipoprotein C-II. Atherosclerosis. 1981 Jan-Feb;38(1-2):1–9. doi: 10.1016/0021-9150(81)90097-6. [DOI] [PubMed] [Google Scholar]
  16. Swaney J. B., Gidez L. I. Analysis of rat serum apolipoproteins by isoelectric focusing. II. Studies on the low molecular weight subunits. J Lipid Res. 1977 Jan;18(1):69–76. [PubMed] [Google Scholar]
  17. Windler E., Chao Y., Havel R. J. Regulation of the hepatic uptake of triglyceride-rich lipoproteins in the rat. Opposing effects of homologous apolipoprotein E and individual C apoproteins. J Biol Chem. 1980 Sep 10;255(17):8303–8307. [PubMed] [Google Scholar]
  18. Zannis V. I., Breslow J. L. Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification. Biochemistry. 1981 Feb 17;20(4):1033–1041. doi: 10.1021/bi00507a059. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Clinical Investigation are provided here courtesy of American Society for Clinical Investigation

RESOURCES