Interaction between gene polymorphisms in MLL3 gene and TGF-β signal pathway with the susceptibility of type B aortic dissection in the Chinese population

Objective: To investigate the impact of MLL3 polymorphisms and Transforming growth factor-β (TGF-β) pathway additional their interactions with type B aortic dissection (AD) risk based on the Chinese population. Methods: We investigated the MLL3 (rs10244604, rs6963460, rs1137721), TGFβ1 (rs1800469), TGFβ2 (rs900), TGFR1 (rs1626340) and TGFR2 (rs4522809) gene polymorphisms analysis. Logistic regression was performed to investigate the association between 7 SNPs and Type B AD. GMDR software was used to analyze gene-gene and gene-environment interactions. Odds ratio (OR) with a 95% confidence interval (CI) was employed to evaluate the association of genes and Type B AD risk. Results: Genotypes and alleles distribution in case and control groups showed significant differences (P<0.05). Logistic regression has shown that the Type B AD risk was the highest in those with rs1137721 CT genotype, (OR=4.33, 95%CI=1.51-12.40). Meanwhile, WBC, Drinking, Hypertension, TG, and LDL-C were independent risk factors for Type B AD. Respectively, Logistic regression showed that the Type B AD risk was the highest in those with rs1137721-TT+CT and rs4522809-AA genotype (OR=6.72, 95% CI=1.56-29.84), and was lowest in those with rs1137721-CC and rs4522809-AA+GG genotype (OR=4.38, 95%CI=0.92-20.83). However, 55-month median long-term follow-up were not show significant.Conclusion: MLL3 (rs1137721) with TGFβ1 (rs4522809) polymorphisms may be closely related to the development of Type B AD. Inflammation reaction and lipid metabolism were associated with the morbility of Type B AD. Moreover, there exist gene-gene interactions among these susceptibility genes. These may become new diagnostic and research goal for Type B AD.