Genetic factors involved in the interindividual variability of antithrombin have not been identified. We studied two polymorphisms of the gene coding for antithrombin (SER- PINC1) in 298 Spanish Caucasian blood donors: rs3138521, a DNA length polymorphism located on the promoter region and rs2227589, a SNP located on intron 1 that has been described as a mild thrombotic risk factor. We detected a complete linkage disequilibrium between these polymorphisms (D'=0.999). The rs3138521 polymorphism has no functional consequences. However, the rs2227589 SNP significantly associated with plasma anti-FXa activity and antithrombin levels: carriers of the A allele had slightly but significantly lower anticoagulant activity and levels than GG subjects (97.0±7.3% vs. 94.6±8.4%; p=0.032; 99.5±5.8% vs. 94.8±5.6%; p=0.001; respectively). Our results identified a functional effect of the rs2227589 polymorphism not explained by its linkage with the promoter polymorphism that support the moderate thrombotic risk associated with the A allele. © 2009 Ferrata Storti Foundation.
CITATION STYLE
Antón, A. I., Teruel, R., Corral, J., Miñano, A., Martánez-Martánez, I., Ordóñez, A., … Sánchez-Vega, B. (2009). Functional consequences of the prothrombotic serpinc1 rs2227589 polymorphism on antithrombin levels. Haematologica, 94(4), 589–592. https://doi.org/10.3324/haematol.2008.000604
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