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 journalArticle

5 Citations (Scopus)

Abstract

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
Volume81
Issue number5-6
DOIs
StatePublished - Dec 2009
Externally publishedYes

Fingerprint

blood coagulation factors
Factor VII
Blood Coagulation Factors
Quantitative Trait Loci
dissection
Dissection
quantitative trait loci
polymorphism
gene
genetic polymorphism
Genes
genes
cardiovascular disease
risk factor
quantitative traits
Genetic Promoter Regions
cardiovascular diseases
plasma
DNA
Cardiovascular Diseases

Keywords

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

ASJC Scopus subject areas

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

Cite this

Soria, J. M., Almasy, L., Souto, J. C., Sabaterlleal, M., Fontcuberta, J., & Blangero, J. (2009). The F7 gene and clotting factor VII levels: Dissection of a human quantitative trait locus. Human Biology, 81(5-6), 853-867. https://doi.org/10.3378/027.081.0627

The F7 gene and clotting factor VII levels : Dissection of a human quantitative trait locus. / Soria, José Manuel; Almasy, Laura; Souto, Juan Carlos; Sabaterlleal, Maria; Fontcuberta, Jordi; Blangero, John.

In: Human Biology, Vol. 81, No. 5-6, 12.2009, p. 853-867.

Research output: Contribution to journalArticle

Soria, JM, Almasy, L, Souto, JC, Sabaterlleal, M, Fontcuberta, J & Blangero, J 2009, 'The F7 gene and clotting factor VII levels: Dissection of a human quantitative trait locus', Human Biology, vol. 81, no. 5-6, pp. 853-867. https://doi.org/10.3378/027.081.0627
Soria JM, Almasy L, Souto JC, Sabaterlleal M, Fontcuberta J, Blangero J. The F7 gene and clotting factor VII levels: Dissection of a human quantitative trait locus. Human Biology. 2009 Dec;81(5-6):853-867. https://doi.org/10.3378/027.081.0627
Soria, José Manuel ; Almasy, Laura ; Souto, Juan Carlos ; Sabaterlleal, Maria ; Fontcuberta, Jordi ; Blangero, John. / The F7 gene and clotting factor VII levels : Dissection of a human quantitative trait locus. In: Human Biology. 2009 ; Vol. 81, No. 5-6. pp. 853-867.
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