Association of polymorphisms in FBN1, MYH11, and TGF-β signaling-related genes with susceptibility of sporadic thoracic aortic aneurysm and dissection in the Zhejiang Han population

Abstract

Background: Sporadic thoracic aortic aneurysm and dissection (sTAAD) is a complicated vascular disease with a high mortality rate. And its genetic basis has not been fully explored.

Method: Here, 122 sTAAD patients and 98 healthy individuals were recruited, and 10 single nucleotide polymorphisms were selected and analyzed (FBN1 rs10519177, rs1036477, rs2118181, MYH11 rs115364997, rs117593370, TGFβ1 rs1800469, TGFβ2 rs900, TGFβR2 rs764522, rs1036095, and rs6785385). Moreover, multiple logistic regression analysis was used to evaluate gene-environment interactions.

Results: We identified that TGFβR2 rs1036095 dominant model CC + CG genotype (GT) (P = 0.004) may be a factor of increased risk of sTAAD, especially for women. FBN1 rs1036477 recessive model AA GT (P = 0.009) and FBN1 rs2118181 dominant model CC + CT GT (P = 0.009) were correlated to an increased death rate in sTAAD men patients. Gene-environment interactions indicated TGFβR2 rs1036095 dominant model (CC + CG)/GG to be a higher-risk factor for sTAAD (odds ratio = 3.255; 95% confidence interval: 1.324-8.000, P = 0.01).

Conclusions: TGFβR2 rs1036095, FBN1 rs1036477, and FBN1 rs2118181 were identified as factors of increased risk of sTAAD. Gene-environment interactions were associated with the risk of sTAAD.

Keywords: FBN1; MYH11; TGF-β; polymorphism; sporadic thoracic aortic aneurysm and dissection; the Chinese population.