@article{ed3bd1ebdafd4cfea4710b0a7143735f,
title = "Association of the single nucleotide polymorphism rs2227589 in the SERPINC1 gene with inherited antithrombin deficiency",
abstract = "Antithrombin (AT) is a major physiological inhibitor of haemostasis. Patients with inherited AT deficiency are at significantly increased risk for venous thromboembolism. The AT gene SERPINC1 is located on chromosome 1q23-25 and a large number of different mutations underlying AT deficiency have been reported. The single nucleotide polymorphism (SNP) rs2227589 in the SERPINC1 gene has recently been found in strong association with venous thrombosis in a well-characterised setting of case-control studies of first deep vein thrombosis. We have analysed DNA samples from 83 index patients and 43 related family members with inherited AT deficiency. We could identify the causal mutation for AT deficiency in all families by sequencing all seven exons and intronic junction regions and by multiplex ligation-dependent probe amplification. Genotyping for the intronic SNP rs2227589 in the SERPINC1 gene was performed by digestion with BsaHI of a PCR fragment containing the SNP. The risk allele (T) for the SNP was absent in 59 of the 83 index patients (71%), heterozygously present in 23 (28%) and homozygously in one (1%). Nearly all patients had a history of venous thromboembolism. Analyses in the related AT deficient family members and in normal controls are ongoing. In the mentioned study on gene variants associated with DVT, the risk allele (T) of the SNP had a minor allele frequency of about 10% in controls and 12% in cases. We found a clearly higher frequency of the risk allele in our AT deficient patient group. We are currently collecting detailed information on clinical presentation and risk factors of the thrombotic episodes in our patient group in order to study interactions with clinical variables.",
keywords = "single nucleotide polymorphism, inherited antithrombin deficiency",
author = "Kristin Jochmans and Christelle Orlando and Willy Lissens and Ingeborg Liebaers and {De Waele}, Marc",
year = "2009",
language = "Italian",
volume = "7",
pages = "690",
journal = "Journal of Thrombosis and Haemostasis",
issn = "1538-7933",
publisher = "Wiley-Blackwell",
note = "null ; Conference date: 21-09-2009 Through 25-09-2009",
}