Association of gene polymorphisms in FBN1 and TGF-β signaling with the susceptibility and prognostic outcomes of Stanford type B aortic dissection

BMC Medical Genomics

Xiang Ma¹  Yitong Ma¹  Qinghua Yuan²  Ling Sun³  Peipei Jiang⁴  Yafei Chang⁵ 

[1] Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University;Department of Cardiology, The Seventh Affiliated Hospital of Sun Yat-Sen University;Department of Cardiology, Yingshang People’s Hospital;Department of Geriatrics, The Fourth People’s Hospital of Urumqi City;Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Sen University;

关键词: Aortic dissection;    FBN1;    TGFB1;    TGFB2;    SNP;    GMDR;   

DOI  :  10.1186/s12920-022-01213-z

来源: DOAJ

【 摘 要 】

Abstract Background This study is aimed at investigating the association of Fibrillin-1 (FBN1) and transforming growth factor β (TGF-β) signaling-related gene polymorphisms with the susceptibility of Stanford type B aortic dissection (AD) and its clinical prognostic outcomes. Methods Five single-nucleotide polymorphism (SNPs) (FBN1rs 145233125, rs201170905, rs11070646, TGFB1rs1800469, and TGFB2rs900) were analyzed in patients with Stanford type B AD (164) and healthy controls (317). Gene–gene and gene–environment interactions were assessed by generalized multifactor dimensionality reduction. A 4-year follow-up was performed for all AD patients. Results G carriers of FBN1 rs201170905 and TGFB1 rs1800469 have an increased risk of Stanford type B AD. The interaction of FBN1, TGFB1, TGFB2 and environmental promoted to the increased risk of type B AD (cross-validation consistency = 10/10, P = 0.001). Dominant models of FBN1rs145233125 TC + CC genotype (P = 0.028), FBN1 rs201170905 AG + GG (P = 0.047) and TGFB1 rs1800469 AG + GG (P = 0.052) were associated with an increased risk of death of Stanford type B AD. The recessive model of FBN1 rs145233125 CC genotype (P < 0.001), FBN1rs201170905 GG (P < 0.001), TGFB1 rs1800469 AG + GG genotype (P = 0.011) was associated with an increased risk of recurrence of chest pain in Stanford type B AD. Conclusions The interactions of gene–gene and gene–environment are related with the risk of Stanford type B AD. C carriers of rs145233125, G carriers of rs201170905 and G carriers of rs1800469 may be the poor clinical outcome indicators of mortality and recurrent chest pain in Stanford type B AD.

【 授权许可】

Unknown