A quantitative trait locus on chromosome 16q influences variation in plasma HDL-C levels in Mexican Americans

Michael C. Mahaney, L. Almasy, D. L. Rainwater, J. L. VandeBerg, S. A. Cole, J. E. Hixson, J. Blangero, J. W. MacCluer

    Research output: Contribution to journalArticlepeer-review

    41 Scopus citations


    Objective - We conducted a whole-genome, multipoint linkage screen to localize a previously reported major locus accounting for 56% to 67% of the additive genetic effects on covariate-adjusted plasma HDL cholesterol (HDL-C) levels in Mexican Americans from the San Antonio Family Heart Study (SAFHS). Methods and Results - After using complex segregation analysis to recover the major locus in 472 SAFHS participants from 10 genotyped families, we incorporated covariates required to detect that major locus, including plasma levels of triglycerides and apolipoprotein A-I, in a maximum-likelihood- based variance-components linkage screen. Only chromosome 16 exhibited convincing evidence for a quantitative trait locus (QTL), with a peak multipoint log of the odds (LOD)=3.73 (P=0.000034). Subsequent penetrance model-based linkage analysis, incorporating genotypes at the marker locus nearest the multipoint peak (D16S518) into the segregation model, detected linkage with the previously detected major locus (LOD=2.73, P=0.000642). Initial estimates place this QTL within a 15-cM region of chromosome 16q near the structural loci for lecithin: cholesterol acyltransferase (LCAT) and cholesteryl ester transfer protein (CETP). Conclusions - A QTL influencing plasma levels of HDL-C in Mexican Americans from San Antonio maps to a region of human chromosome 16q near LCAT and CETP.

    Original languageEnglish (US)
    Pages (from-to)339-345
    Number of pages7
    JournalArteriosclerosis, Thrombosis, and Vascular Biology
    Issue number2
    StatePublished - Feb 1 2003


    • Genome screen
    • HDL
    • Heritability
    • Linkage
    • Mexican Americans

    ASJC Scopus subject areas

    • Cardiology and Cardiovascular Medicine

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