ORIGINAL ARTICLE: Genetic determinants of normal variation in coagulation factor (F) IX levels: genome-wide scan and examination of the FIX structural gene

Background: High-normal and elevated plasma FIX activity (FIX:C) levels are associated with increased risk for venous- and possibly arterial-thrombosis. Objective: Because the broad normal range for FIX:C involves a substantial unknown genetic component, we sought to identify quantitative-trait loci...

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Veröffentlicht in:Journal of thrombosis and haemostasis 2006-07, Vol.4 (7), p.1537-1545
Hauptverfasser: Khachidze, M, Buil, A, Viel, K R, Porter, S, Warren, D, Machiah, D K, Soria, J M, Souto, J C, Ameri, A, Lathrop, M, Blangero, J, Fontcuberta, J, Warren, ST, Almasy, L, Howard, TE
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Sprache:eng
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Zusammenfassung:Background: High-normal and elevated plasma FIX activity (FIX:C) levels are associated with increased risk for venous- and possibly arterial-thrombosis. Objective: Because the broad normal range for FIX:C involves a substantial unknown genetic component, we sought to identify quantitative-trait loci (QTLs) for this medically important hemostasis trait. Methods: We performed a genome-wide screen and a resequencing-based variation scan of the known functional regions of every distinct FIX gene (F9) in the genetic analysis of idiopathic thrombophilia project (GAIT), a collection of 398 Spanish-Caucasians from 21 pedigrees. Results: We found no evidence for linkage (LOD scores
ISSN:1538-7933
1538-7836
DOI:10.1111/j.1538-7836.2006.02024.x