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Title: Prothrombin Polymorphisms Implicated in Deep Vein Thrombosis

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British Journal of Haematology Volume 118 Issue 2 Page 610 - August 2002. "Prothrombin A19911G and G20210A polymorphisms' role in thrombosis"
08/14/2002 12:12:29 PM
By Anne MacLennan

The prothrombin A19911G polymorphism may modulate the risk of the G20210A polymorphism in developing deep venous thrombosis, suggests a multicentre study in Spain. Although its prothrombotic role is mild, the G20210A polymorphism, which correlates with the plasmatic prothrombin levels, is the second genetic risk factor for deep venous thrombosis (DVT). Recently, however, a preliminary study with only a few patients and controls suggested the prothrombin A19911G polymorphism, which is also linked with slight variations of the prothrombin level, may modulate the thrombotic risk of the G20210A. Dr. Elena Perez-Ceballos and colleagues from the Hospital General Universitario, Murcia, and four other centres, investigated the effect of the A19911G polymorphism on the arterial and venous thrombotic risk of the prothrombin 20210G/A genotype. The study included 204 consecutive DVT patients and 204 matched controls. In addition, the team analysed 213 carriers of the 20210G/A genotype (152 with DVT, 26 with arterial thrombosis and 35 healthy subjects) and 10 homozygous 20210A/A carriers. A simple method was developed to determine simultaneously the genotype of both polymorphisms. The case control study indicated the A19911G polymorphism did not play a significant role in the development of DVT. Analysis of 120 20210A alleles demonstrated a complete linkage disequilibrium with the 19911 A allele. Alone or combined, these polymorphisms did not modify risk of arterial thrombosis. However, the 19911A/G genotype did slightly increase risk of developing DVT in carriers of the 20210G/A genotype. This indicates the prothrombin 19911 polymorphism could modulate risk of the G20210A polymorphism in developing this condition, these authors suggest.

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