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, S. T., ALMASY, L., HOWARD, T. E.
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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
1538-7836
DOI:10.1111/j.1538-7836.2006.02024.x