Genetic variation in ABCA1 predicts ischemic heart disease in the general population

Ruth Frikke-Schmidt, BG Nordestgaard, Gorm B Jensen, R Steffensen, A Tybjaerg-Hansen, Børge G Nordestgaard, Anne Tybjaerg-Hansen, Ruth Frikke-Schmidt, Rolf Steffensen

    109 Citationer (Scopus)

    Abstract

    Objective - We tested the hypothesis that 6 nonsynonymous single nucleotide polymorphisms ( SNPs) in ATP-Binding-Cassette transporter A1 (ABCA1) affect risk of ischemic heart disease (IHD) in the general population. Methods and Results - We genotyped 9259 individuals from the Danish general population followed for 25 years. Two SNPs (V771M and V825I) were previously associated with increases in HDL-C, 1 (R1587K) with decreased HDL-C, whereas 3 (R219K, I883M and E1172D) did not affect HDL-C levels. Despite this, 5 out of 6 SNPs ( V771M, V825I, I883M, E1172D, R1587K) predicted increased risk of IHD. Similar results were obtained in a verification sample with 932 IHD cases versus 7999 controls. A stepwise regression approach identified V771M, I883M, and E1172D as the most important predictors of IHD and additive effects on IHD risk were present for V771M/I883M and I883M/E1172D pairs. Conclusions - We show that 3 of 6 nonsynonymous SNPs in ABCA1 predict risk of IHD in the general population
    Udgivelsesdato: 2008/1/1
    OriginalsprogEngelsk
    TidsskriftArteriosclerosis, Thrombosis, and Vascular Biology
    Vol/bind28
    Udgave nummer1
    Sider (fra-til)180-6
    Antal sider7
    ISSN1079-5642
    DOI
    StatusUdgivet - 2008

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