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(Arteriosclerosis, Thrombosis, and Vascular Biology. 2003;23:376.)
© 2003 American Heart Association, Inc.

Editorials

Successful Hunt for Quantitative Trait Locus in Thrombophilia

Björn Dahlbäck

From the Department of Clinical Chemistry, The Wallenberg Laboratory, University Hospital, Malmo, Sweden.

Correspondence to Björn Dahlbäck, Department of Clinical Chemistry, The Wallenberg Laboratory, University Hospital, Malmo, S-205 02 Sweden. E-mail bjorn.dahlabck@klkemi.mas.lu.se

An extract of the first 250 words of the full text is provided, because this article has no abstract.

In recent years, our knowledge of the genetic mechanisms of thrombophilia has advanced considerably. The elucidation of the protein C system with the identification of protein C and protein S deficiencies and activated protein C (APC) resistance due to a factor V gene mutation (FV Leiden) as major risk factors of thrombosis has been instrumental for the rapid progress.^1–3 Despite these achievements, our understanding of the genetic contribution to thrombophilia is incomplete, and new technological approaches are tried to elucidate unknown genetic factors. The GAIT (Genetic Analysis of Idiopathic Thrombophilia) project is an effort to use genome-wide linkage screening to identify unknown genetic risk factors. This project in addition allows the identification of genes influencing the normal variation of the concentrations of certain plasma proteins.

See page 508

In this issue, Almasy and colleagues⁴ describe a genome-wide screen aiming at identification of genes affecting the level of free protein S (fPS) in plasma. The positive results of this exercise are of interest not only from the point of view of protein S biology but also because it proves the experimental approach useful. The authors investigated a large number (398) of individuals from 21 Spanish families using many (363) informative DNA markers. Highly significant linkage (logarithm of odds [LOD] score around 4) was observed between the fPS level and a distinct region on chromosome 1q. The likelihood that this represents a biologically significant association is high because the identified chromosomal region houses the C4BPA and C4BPB genes. These genes code for . . . [Full Text of this Article]