A Common Thrombomodulin Amino Acid Dimorphism Is Associated with Myocardial Infarction

Thrombosis and Haemostasis - Tập 77 Số 02 - Trang 248-251 - 1997
Lena Norlund1, Johan Holm2, Henrik Ohlsson3, Ann-Kristin Öhlin1
1The Department of Laboratory Medicine, Division of Clinical Chemistry, University of Lund, University Hospital, Lund, Sweden
2The Department of Cardiology, University of Lund, University Hospital, Malmö, Sweden
3The Department of Clinical Chemistry, University of Lund, University Hospital, Malmö, Sweden

Tóm tắt

SummaryEndothelial dysfunction and haemostatic imbalance are believed to be important aetiological factors in the development of acute coronary syndromes. Thrombomodulin (TM) is an integral membrane protein crucial for normal endothelial function and activation of the protein C anticoagulant pathway. We have investigated the importance of a common C/T dimorphism in the TM gene (nucleotide 1418) for development of premature myocardial infarction (MI). The C/T dimorphism predicts an Ala455 to Val replacement in the sixth EGF-like domain of TM. The dimorphism was investigated in 97 MI survivors and 159 healthy controls. The C allele was significantly more frequent among patients than controls (p = 0.035). The allele frequency for the C allele was 0.82 in the patients and 0.72 in the control group. The plasma concentration of TM was investigated among healthy controls but was not related to the C/T dimorphism. In conclusion, the association of the C allele with premature MI, suggests that the TM gene and the C/T dimorphism may be aetiological factors involved in the pathogenesis of MI. Possibly, the Ala455 to Val replacement may affect the function of the TM molecule and the activation of the protein C anticoagulant pathway.

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Thrombosis and Haemostasis

Tập 77 Số 02

248-251

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