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Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection

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Abstract

To investigate the association of myosin heavy chain protein 11 (MYH11) and transforming growth factor β signaling-related gene polymorphisms with the susceptibility of DeBakey type III aortic dissection (AD) and its clinical outcomes. Four single-nucleotide polymorphism (SNPs) (MYH11 rs115364997, rs117593370, TGFB1 rs1800469, and TGFBR1 rs1626340) were analyzed in patients with DeBakey III AD (173) and healthy participants (335). Gene–gene and gene–environment interactions were evaluated using generalized multifactor dimensionality reduction. The patients were followed up for a median of 55.7 months. MYH11 rs115364997 G or TGFBR1 rs1626340 A carriers had an increased risk of DeBakey type III AD. MYH11, TGFB1, TGFBR1, and environment interactions contributed to the risk of DeBakey type III AD (cross-validation consistency = 10/10, P = 0.001). Dominant models of MYH11 rs115364997 AG + GG genotype (HR = 2.443; 95%CI: 1.096–5.445, P = 0.029), TGFB1 rs1800469 AG + GG (HR = 2.303; 95%CI: 1.069–4.96, P = 0.033) were associated with an increased risk of mortality in DeBakey type III AD. The dominant model of TGFB1 rs1800469 AG + GG genotype was associated with an increased risk of recurrence of chest pain in DeBakey type III AD (HR = 1.566; 95%CI: 1.018–2.378, P = 0.041). In conclusions, G carriers of MYH11 rs115364997 or TGFB1 rs1800469 may be the poor prognostic indicators of mortality and recurrent chest pain in DeBakey type III AD. The interactions of gene–gene and gene–environment are associated with the risk of DeBakey type III AD.

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Data availability

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

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Acknowledgements

This work was funded by the National Natural Science Foundation of China (NO.81660085) and the Construction of key laboratories in Xinjiang Uygur Autonomous Region (NO.2019D04017).

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Author notes

  1. Yafei Chang and Qinghua Yuan contributed equally to this work and share the position of the first author.

  2. Yitong Ma and Xiang Ma make an equal contribution.

Authors and Affiliations

  1. Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Senen University, Guangzhou, China

    Yafei Chang

  2. Department of Cardiology, The Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China

    Qinghua Yuan

  3. Department of Geriatrics, The Fourth People’s Hospital of Urumqi City, Urumqi, China

    Peipei Jiang

  4. Department of Cardiology, Fuyang Tumor Hospital, Fuyang, China

    Ling Sun

  5. Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, 137 Liyushan South Road, Urumqi, 830054, China

    Yitong Ma & Xiang Ma

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  1. Yafei Chang
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  2. Qinghua Yuan
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  3. Peipei Jiang
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  4. Ling Sun
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Contributions

YC and QY contributed to the study design, data collection, experiment implementation, statistical analysis, and manuscript writing and revision. PJ and LS contributed to the data collection and experiment implementation. XM and YM contributed to the study design, and manuscript revision and approval.

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Correspondence to Xiang Ma.

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Chang, Y., Yuan, Q., Jiang, P. et al. Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection. Mamm Genome 33, 555–563 (2022). https://doi.org/10.1007/s00335-021-09929-6

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  • DOI: https://doi.org/10.1007/s00335-021-09929-6

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