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1 December 2009 The F7 Gene and Clotting Factor VII Levels: Dissection of a Human Quantitative Trait Locus
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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.

© 2005 Wayne State University Press, Detroit, Michigan 48201-1309
José Manuel Soria, Laura Almasy, Juan Carlos Souto, Maria Sabaterlleal, Jordi Fontcuberta, and John Blangero "The F7 Gene and Clotting Factor VII Levels: Dissection of a Human Quantitative Trait Locus," Human Biology 81(5/6), 853-867, (1 December 2009). https://doi.org/10.3378/027.081.0627
Received: 12 August 2005; Published: 1 December 2009
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