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

José Manuel Soria, Laura Almasy, Juan Carlos Souto, Maria Sabaterlleal, Jordi Fontcuberta, John Blangero

Research output: Contribution to journalArticlepeer-review

5 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)853-867
Number of pages15
JournalHuman Biology
Issue number5-6
StatePublished - Dec 2009
Externally publishedYes


  • 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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