RGD Reference Report - Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis.

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Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis.
Authors:	Tirado, I Soria, JM Mateo, J Oliver, A Souto, JC Santamaria, A Felices, R Borrell, M Fontcuberta, J
Citation:	Tirado I, etal., Thromb Haemost. 2004 May;91(5):899-904.
RGD ID:	11041808
Pubmed:	PMID:15116249 (View Abstract at PubMed)
DOI:	DOI:10.1160/TH03-10-0620 (Journal Full-text)
In a family-based study called GAIT (Genetic Analysis of Idiopathic Thrombophilia) that included a genome-wide scan we demonstrated that a polymorphism (46C-->T) in the F12 locus jointly influences variability of plasma (Factor XII) FXII levels and susceptibility to thrombotic disease. It then became germane to determine the prevalence of the 46C-->T polymorphism and its relative risk of thrombotic disease. We followed up evidence for genetic linkage with a case-control study, including 250 unrelated consecutive Spanish patients suffering from venous thrombotic disease and 250 Spanish subjects matched for sex and age as a controls. We measured FXII levels and genotyped the 46C-->T polymorphism, as well as a number of classical risk factors for thrombotic disease. We confirmed that individuals with different genotypes for this polymorphism showed significant differences in their FXII levels. Most importantly, the mutated T allele in the homozygous state (genotype T/T) was associated with an increased risk of thrombosis (adjusted OR of 4.82; 95% CI 1.5-15.6), suggesting that the polymorphism itself is an independent risk factor for venous thromboembolism. This study confirms that the 46C-->T polymorphism is a genetic risk factor for venous thrombosis in the Spanish population. In addition, our results confirm that a genome-wide scan coupled with a classical case-control association study is an extremely valuable approach to identify DNA variants that affect complex diseases.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
F12	Human	Venous Thrombosis	susceptibility	IAGP		DNA:polymorphism::46C>T(human)	RGD
F12	Rat	Venous Thrombosis	susceptibility	ISO	F12 (Homo sapiens)	DNA:polymorphism::46C>T(human)	RGD
F12	Mouse	Venous Thrombosis	susceptibility	ISO	F12 (Homo sapiens)	DNA:polymorphism::46C>T(human)	RGD

Objects Annotated

Genes (Rattus norvegicus)

F12 (coagulation factor XII)

Genes (Mus musculus)

F12 (coagulation factor XII (Hageman factor))

Genes (Homo sapiens)

F12 (coagulation factor XII)

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Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis.