| Popis: |
Object: To evaluate the contribution of actin alpha 2, smooth muscle (ACTA2), myosin heavy chain protein 11 (MYH11), fibrillin 1(FBN1) and transforming growth factor β signaling-related gene polymorphisms and gene-environment interplay in DeBakey type III aortic dissection (AD). Methods: Twelve single-nucleotide polymorphisms (SNPs) (rs115364997 and rs117593370 of MYH11, rs11070646, rs145233125 and rs201170905 of FBN1, rs2028493, rs2119685 and rs3781211 of ACTA2, rs1800469 of TGFB1, rs1626340 of TGFBR1, rs900 of TGFB2, rs4522809 of TGFBR2) were analyzed in patients with DeBakey III AD (159) and non-AD controls (390). Generalized multifactor dimensionality reduction (GMDR) was used to assess gene-gene and gene-environment interactions. Results: MYH11 rs115364997 dominant model AG+GG/AA genotype, TGFBR1 rs1626340 dominant model GA+AA/GG genotype and FBN1 rs201170905 dominant model GG+AG genotype and recessive model GG genotype were identified to be associated with AD risk. Also, the TGFB1 rs1800649 G carrier had an increased AD risk. Two SNPs (rs2119685 and rs3781211) located in ACTA2 were also associated with the susceptibility of AD in the dominant model. The gene-gene interaction of FBN1 rs201170905, ACTA2 rs3781211, TGFB1 rs1800469, TGFBR1rs1626340, TGFB2rs900, TGFBR2rs4522809 was identified as the best model([CVC]) 10/10; p =0.0107). The interaction of gene-gene and gene-environment are associated with the risk of DeBakey type III AD. |
