[Frontiers in Bioscience E2, 559-565, January 1, 2010]

Haemostatic gene polymorphisms in young Sardinian with acute myocardial infarction

Lorena Musino1, Renata Rossi1, Adolfo Partenza2, Giovanna Mureddu3, Angelo Zinellu1,6, Patrizia Pilo3, Ignazio Maoddi3, Liana Spazzafumo4, Flavia Franconi5, 6, Luca Deiana1, Ciriaco Carru1, 6

1Department of Biomedical Sciences and Centre of Excellence for Biotechnology Development and Biodiversity Research, University of Sassari, Italy, 2Laboratory Analysis Unit , C. Zonchello, Italy, 3UTIC, ASL N.3 Nuoro, Italy, 4INRCA Ancona, Italy, 5Department of Pharmacology and Centre of Excellence for Biotechnology Development and Biodiversity Research, University of Sassari, Italy,6National Laboratory of the National Institute of Biostructures and Biosystems, Osilo, Italy

TABLE OF CONTENTS

1. Abstract
2. Introduction
3. Materials and Methods
3.1. Subjects
3.2. DNA analysis
3.2.1. G-455A Polymorphism of the fibrinogen gene
3.2.2. G20210A Polymorphism of the prothrombin (factor II) gene
3.2.3. G1691A Polymorphism of the factor V gene
3.2.4. G10976A and G73A Polymorphisms of the factor VII gene
3.2.5. PLA1/PLA2 Polymorphism of the platelet glycoprotein IIIa gene
3.2.6. Platelet glycoprotein HPA-2 polymorphism
3.2.7. 4G/5G Polymorphism of the Plasminogen Activator Inhibitor Type I Gene
3.2.8. G33A mutation in the Thrombomodulin gene
3.2.9. TPO A5713G and C4830A Polymorphisms
3.2.10. The -1185 G/A and - 1051 A/G dimorphisms in the vWF gene
3.2.11. NOS
3.3. Statistical Analysis
4. Results
5. Discussion
6. Acknowledgements
7. References

1. ABSTRACT

Although the role of environmental factors in the development of acute myocardial infarction (AMI) has been clearly established, the role of genetic factors is still undefined. The aim of this study was to investigate the association between various gene polymorphisms in the haemostatic system and the risk of myocardial infarction in a very genetic restricted area population of Sardinian young adults with AMI. The study case-control involved 71 patients who had survived a first MI at a mean age of 47,2 years and 150 healthy subjects. No differences in the allele or genotype frequencies were seen between the study groups for the fibrinogen, prothrombin, factor V, factor VII, vWF, TM, PAI-1, TPO gene, and PLA and HPA-2 genes polymorphisms. Indeed differences statistically significant were detected for A5709G in the TPO gene (P= 0,041), and I/D dimorphism in the eNOS gene (P= 0,016). We therefore conclude that among all the investigated polymorphisms only the 5709G and eNOS4a alleles seem to confer protection against MI in the young age of Sardinian people.