Gichkun O E, Shevchenko O P, Kurabekova R M, Mozheiko N P, Shevchenko A O
Shumakov National Medical Research Center of Transplantology and Artificial Organs, Moscow, 123182 Russia.
I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, 119435 Russia.
Acta Naturae. 2021 Oct-Dec;13(4):42-46. doi: 10.32607/actanaturae.11469.
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 may lead to a heart's structural and functional remodeling and subsequent dysfunction. The frequency of occurrence of alleles and genotypes of the TGFB1 gene polymorphic regions rs1800469, rs1800470, and rs1800471 in heart transplant recipients and their association with graft myocardial fibrosis were analyzed. Carriers of 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 than among 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 heart transplant recipients with the AA genotype of rs1800470, myocardial fibrosis, verified by endomyocardial biopsy, 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 myocardial fibrosis. Studies on a larger group of patients would make it possible to characterize the influence of genetic factors on the formation of myocardial fibrosis in heart transplant recipients.
转化生长因子β1（TGFβ1）的水平可能取决于TGFB1基因的多态性，它参与心肌纤维化的形成。心脏同种异体移植中的心肌纤维化可能导致心脏的结构和功能重塑以及随后的功能障碍。分析了心脏移植受者中TGFB1基因多态性区域rs1800469、rs1800470和rs1800471的等位基因和基因型的发生频率及其与移植心肌纤维化的关联。与健康个体相比，心脏移植受者中CC基因型的携带者较少见（p = 0.023，OR = 0.12，95%CI：0.017 - 1.0），rs1800471的G等位基因更常见（p = 0.023，OR = 7.76，95%CI：1.0 - 60.20）。在缺血性心脏病（IHD）患者中，GG基因型较少见（p = 0.035，OR = 2.68，95%CI：1.061 - 6.793），而rs1800469的A等位基因比扩张型心肌病（DCM）患者更常见（p = 0.035，OR = 0.37，95%CI：0.148 - 0.942）。在rs1800470的AA基因型的心脏移植受者中，经心内膜活检证实的心肌纤维化比G等位基因携带者更常见（OR = 10.4，95%CI：1.152 - 94.538，p = 0.013）。所揭示的差异表明TGFB1基因多态性与移植心肌纤维化之间存在关联。对更大规模患者群体的研究将有助于描述遗传因素对心脏移植受者心肌纤维化形成的影响。
