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.
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1 December 2009
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
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Human Biology
Vol. 81 • No. 5/6
December 2009
Vol. 81 • No. 5/6
December 2009
CARDIOVASCULAR DISEASE
CLOTTING FACTOR VII
F7 GENE
GAIT STUDY
HEMOSTASIS
QUANTITATIVE TRAIT LOCI
QUANTITATIVE TRAIT NUCLEOTIDE