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={J. Cohen and R. S. Kiss and A. Pertsemlidis and Y. Marcel and R. McPherson and H. Hobbs},
  journal={Science},
  year={2004},
  volume={305},
  pages={869 - 872}
}
  • J. Cohen, R. S. Kiss, +3 authors H. Hobbs
  • Published 2004
  • Biology, Medicine
  • Science
  • 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… CONTINUE READING
    1,084 Citations

    Topics from this paper.

    Paper Mentions

    Evidence of a Polygenic Origin of Extreme High-Density Lipoprotein Cholesterol Levels
    • 37
    Genetic determinants of HDL: monogenic disorders and contributions to variation
    • 36
    Human genetics of variation in high-density lipoprotein cholesterol
    • 31
    Polygenic determinants in extremes of high-density lipoprotein cholesterol[S]
    • 25
    • PDF
    SEQUENCE VARIATION IN THE APOA2 GENE AND ITS RELATIONSHIP WITH PLASMA HDL-CHOLESTEROL LEVELS
    • 2
    • Highly Influenced
    • PDF
    Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese
    • 10
    • PDF
    Familial occurrence of abnormalities of high-density lipoprotein cholesterol.
    • 4

    References

    SHOWING 1-10 OF 14 REFERENCES
    Prediction of deleterious human alleles.
    • 1,054
    • PDF
    In-Depth Haplotype Analysis of ABCA1 Gene Polymorphisms in Relation to Plasma ApoA1 Levels and Myocardial Infarction
    • 100
    • PDF
    Efflux and Atherosclerosis: The Clinical and Biochemical Impact of Variations in the ABCA1 Gene
    • 179
    • PDF
    On the allelic spectrum of human disease.
    • 1,213
    • PDF
    Are rare variants responsible for susceptibility to complex diseases?
    • J. Pritchard
    • Biology, Medicine
    • American journal of human genetics
    • 2001
    • 1,197
    • PDF