Original Investigations

Human Genetics

, Volume 82, Issue 1, pp 73-78

First online:

Genetics of the quantitative Lp(a) lipoprotein trait

III. Contribution of Lp(a) glycoprotein phenotypes to normal lipid variation
  • Eric BoerwinkleAffiliated withCenter for Demographic and Population Genetics, The University of Texas Health Science Center at Houston
  • , Hans Jürgen MenzelAffiliated withInstitut für Medizinische Biologie und Genetik der Universität
  • , Hans Georg KraftAffiliated withInstitut für Medizinische Biologie und Genetik der Universität
  • , Gerd UtermannAffiliated withInstitut für Medizinische Biologie und Genetik der Universität

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Apolipoprotein(a) [apo(a)] is a large serum glycoprotein with several genetically determined isoforms differing in their apparent molecular weight. We determined the effects of the apo(a) isoforms on total cholesterol, high-density lipo-protein (HDL)-cholesterol, lipoprotein(a), and triglyceride levels in a sample of 473 unrelated Tyrolean adults. Average lipoprotein(a) and total cholesterol levels were significantly different among apo(a) types. These significant differences were found among the 13 apo(a) isoform patterns observed in this sample and among several logical subsets of the isoform patterns (e.g. considering only the single band types). The data suggest that the effects of apo(a) alleles on Lp(a) levels are additive. The effects of apo(a) on total cholesterol levels cannot be entirely explained by the cholesterol fraction estimated to be contained in the lipoprotein(a) particle. We estimate that the apo(a) glycoprotein polymorphism accounts for 41.9% and 9.6% of the variability in lipoprotein(a) and total cholesterol levels, respectively. This is the strongest effect of a single polymorphic gene on plasma lipid and lipoprotein levels reported so far.