Congress of the International Society on Thrombosis and Haemostasis

Sex-specific genetic determination of fibrinogen plasma levels

Abstract number: PP-WE-208

Sabater-Lleal¹ M., Arbesú¹ I., Buil¹ A., Souto² J., Blangero³ J., Fontcuberta² J., Almasy³ L., Soria¹ J.

¹¹Unit of Genomics of Complex Diseases, Research Institut Hospital de Sant Pau ²²Unit of Hematology, Hospital de Sant Pau, Barcelona, Spain ³³Department of Population Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX, USA

How-to-cite Sabater-Lleal M, Arbesú I, Buil A, Souto J, Blangero J, Fontcuberta J, Almasy L, Soria J. Sex-specific genetic determination of fibrinogen plasma levels. Journal of Thrombosis and Haemostasis 2009; Volume 7, Supplement 2: Abstract PP-WE-208

Fibrinogen is the precursor of fibrin, and its plasma levels are a well-established risk factor for cardiovascular disease. These levels are influenced largely by genetic factors. But the exact nature of these genetic factors is unknown. Our aim was to localize QTL influencing the plasma levels of fibrinogen. We present the results of a Genome Wide Scan for fibrinogen levels that includes a gender-specific analysis in 21 Spanish families from the GAIT (Genetic Analysis of Idiopathic Thrombophilia) Project. We used 500 DNA microsatellites scattered throughout the genome. Our results revealed a highly significant LOD score (3.52, nominal P = 0.00003) on chromosome 17 that was only detected in females, indicating that a QTL on this chromosome was responsible for fibrinogen levels only in women. In addition we genotyped 667 SNPs within this region that allowed narrowing the linkage signal to 10 Mb. A bioinformatic study in the narrowed region of chromosome 17 revealed the presence of some hormone-related genes that affect fibrinogen levels and that could explain this gender-specific finding. These genes represent new interesting candidate genes to explain regulation of fibrinogen levels. To our knowledge, this is the first report of a gender-specific QTL related to cardiovascular disease. It demonstrates that a gender-specific genetic analysis can increase our ability to detect phenotypes that are affected complex traits. We hope that our results will help to understand the regulation of fibrinogen plasma levels that determine the susceptibility of cardiovascular disease.

Disclosure of interest: none declared.

To cite this abstract use the following format:

Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number

Session Details

Date:	Unpresented
Time:	N/A
Session name:	ISTH2009
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