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

Document Type

Article

Authors

José Manuel Soria, Hospital de la Santa Creu i Sant PauFollow
Laura Almasy, Southwest Foundation for Biomedical Research
Juan Carlos Souto, Hospital de la Santa Creu i Sant Pau
Maria Sabater-Lleal, Hospital de la Santa Creu i Sant Pau

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.

Recommended Citation

Soria, José Manuel; Almasy, Laura; Souto, Juan Carlos; and Sabater-Lleal, Maria (2009) "The F7 Gene and Clotting Factor VII Levels: Dissection of a Human Quantitative Trait Locus," Human Biology: Vol. 81: Iss. 5-6, Article 24. Available at: http://digitalcommons.wayne.edu/humbiol/vol81/iss5/24