Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

@article{Cohen2004MultipleRA,
  title={Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol},
  author={Jonathan C. Cohen and Robert Scott Kiss and Alexander Pertsemlidis and Yves L. Marcel and Ruth McPherson and Helen H. Hobbs},
  journal={Science},
  year={2004},
  volume={305},
  pages={869 - 872}
}
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 (ABCA1, APOA1, and LCAT) 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… 
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