The rs1800470 Polymorphism of the TGFB1 Gene Is Associated with Myocardial Fibrosis in Heart Transplant Recipients

Abstract

The transforming growth factor β1 (TGFβ1), whose level may depend on the polymorphism of the TGFB1 gene, is involved in the formation of myocardial fibrosis. Myocardial fibrosis in a cardiac allograft maylead to a heart’s structural and functional remodeling and subsequent dysfunction. The frequency of occurrenceof alleles and genotypes of the TGFB1 gene polymorphic regions rs1800469, rs1800470, and rs1800471in heart transplant recipients and their association with graft myocardial fibrosis were analyzed. Carriersof the CC genotype (p = 0.023, OR = 0.12, 95% CI: 0.017–1.0), and more often the G allele of rs1800471(p = 0.023, OR = 7.76, 95% CI: 1.0–60.20), were found among heart transplant recipients less frequently thanamong healthy individuals. In patients with ischemic heart disease (IHD), the GG genotype was less common(p = 0.035, OR = 2.68, 95% CI: 1.061–6.793), while the A allele of rs1800469 was found more frequently(p = 0.035, OR = 0.37 95% CI: 0.148–0.942) than in patients with dilated cardiomyopathy (DCM). In hearttransplant recipients with the AA genotype of rs1800470, myocardial fibrosis, verified by endomyocardialbiopsy, was detected more often than in carriers of the G allele (OR = 10.4, 95% CI: 1.152–94.538, p = 0.013).The revealed differences suggest a relationship between TGFB1 gene polymorphism and graft myocardialfibrosis. Studies on a larger group of patients would make it possible to characterize the influence of geneticfactors on the formation of myocardial fibrosis in heart transplant recipients