Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

DOI Web Site 被引用文献22件
  • Jonathan C. Cohen
    Donald W. Reynolds Cardiovascular Clinical Research Center and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
  • Robert S. Kiss
    Donald W. Reynolds Cardiovascular Clinical Research Center and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
  • Alexander Pertsemlidis
    Donald W. Reynolds Cardiovascular Clinical Research Center and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
  • Yves L. Marcel
    Donald W. Reynolds Cardiovascular Clinical Research Center and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
  • Ruth McPherson
    Donald W. Reynolds Cardiovascular Clinical Research Center and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
  • Helen H. Hobbs
    Donald W. Reynolds Cardiovascular Clinical Research Center and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

抄録

<jats:p> Heritable variation in complex traits is generally considered to be conferred by common DNA sequence polymorphisms. We tested whether rare DNA sequence variants collectively contribute to variation in plasma levels of highdensity lipoprotein cholesterol (HDL-C). We sequenced three candidate genes ( <jats:italic>ABCA1, APOA1</jats:italic> , and <jats:italic>LCAT</jats:italic> ) that cause Mendelian forms of low HDL-C levels in individuals from a population-based study. Nonsynonymous sequence variants were significantly more common (16% versus 2%) in individuals with low HDL-C (<fifth percentile) than in those with high HDL-C (>95th percentile). Similar findings were obtained in an independent population, and biochemical studies indicated that most sequence variants in the low HDL-C group were functionally important. Thus, rare alleles with major phenotypic effects contribute significantly to low plasma HDL-C levels in the general population. </jats:p>

収録刊行物

  • Science

    Science 305 (5685), 869-872, 2004-08-06

    American Association for the Advancement of Science (AAAS)

被引用文献 (22)*注記

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