Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
摘要：
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 high density 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 individuals with low 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.
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关键词：
Abca1 gene Familial hypoalphalipoproteinemia Efflux Disease Susceptibility Deficiency Mutations Variants
DOI：
10.1126/science.1099870
被引量：
年份：
2004
BMJ
万方医学
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掌桥科研
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