Article
Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population.
Journal of the American College of Cardiology - 18 Oct 2005
Frikke-Schmidt Ruth, Nordestgaard Børge G, Schnohr Peter, Steffensen Rolf, Tybjaerg-Hansen Anne
Abstract excerpt
OBJECTIVES: We tested whether heterozygosity for the K776N mutation (frequency: 0.4%) in ATP-binding cassette transporter A1 (ABCA1) predicted ischemic heart disease (IHD) in the Copenhagen City Heart Study population. BACKGROUND: In a complex trait like IHD, genetic variation is considered to be conferred by common DNA polymorphisms, although rare mutations may have a larger impact. Tangier disease, a rare...
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