The F7 gene and clotting factor VII levels: Dissection of a human quantitative trait locus

José Manuel Soria, Laura Almasy, Juan Carlos Souto, Maria Sabater-Lleal, Jordi Fontcuberta, John Blangero

    Research output: Contribution to journalArticlepeer-review

    30 Scopus citations


    Localization of human quantitative trait loci (QTLs) is now routine. However, identifying their functional DNA variants is still a formidable challenge. We present a complete dissection of a human QTL using novel statistical techniques to infer the most likely functional polymorphisms of a QTL that influence plasma levels of clotting factor VII (FVII), a risk factor for cardiovascular disease. Resequencing of 15 kb in and around the F7 gene identified 49 polymorphisms, which were then genotyped in 398 people. Using a Bayesian quantitative trait nucleotide (BQTN) method, we identified four to seven functional variants that completely account for this QTL. These variants include both rare coding variants and more common, potentially regulatory polymorphisms in intronic and promoter regions.

    Original languageEnglish (US)
    Pages (from-to)561-575
    Number of pages15
    JournalHuman Biology
    Issue number5
    StatePublished - Oct 2005


    • Cardiovascular disease
    • Clotting factor VII
    • F7 gene
    • Gait study
    • Hemostasis
    • Quantitative trait loci
    • Quantitative trait nucleotide
    • Thrombosis
    • Variance components

    ASJC Scopus subject areas

    • Ecology, Evolution, Behavior and Systematics
    • Genetics
    • Genetics(clinical)


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