Role of TGF-?1 haplotypes in the occurrence of myocardial infarction in young Italian patients

Background: Transforming growth factor beta 1 (TGF-?1) gene play an important role in the acute myocardial infarction (AMI), however no investigation has been conducted so far in young AMI patients. In this study, we evaluated the influence of TGF-?1 polymorphisms/haplotypes on the onset and progression of AMI in young Italian population. Methods: 201 cases and 201 controls were genotyped for three TGF-?1 polymorphisms (G-800A, C-509T and Leu10Pro). The main follow-up end-points (mean follow-up, 107 ± 49 months) were death, myocardial infarction or revascularization procedures. Results: Significant risk factors were smoking (p < 10-4), family history for coronary artery disease (p < 10-4), hypercholesterolemia (p = 0.001) and hypertension (p = 0.002). The C-509T and Leu10Pro polymorphisms showed significant differences (p = 0.026 and p = 0.004) between cases and controls. The most common haplotypes revealed a possible protective effect (GCT, OR 0.75, 95% CI 0.57- 0.99, p = 0.042) and an increased risk of AMI (GTC, OR 1.51, 95% CI 1.13-2.02, p = 0.005), respectively. No statistical differences were observed in genotype distribution in the follow-up study between the two groups: 61 patients with subsequent events (13 deaths) and 108 without events. Conclusion: Even though our results need to be further confirmed in larger studies, this is the first study reporting on a possible role of TGF?1 common haplotypes in the onset of AMI in young patients.